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asthma

MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Synonyms: Asthma; Bronchial asthma; Reactive airway disease
SNOMED CT: Airway hyperreactivity (195967001); Asthmatic (195967001); Bronchial asthma (195967001); Asthma (195967001)
 
HPO: HP:0002099
Monarch Initiative: MONDO:0004979

Definition

Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. [from HPO]

Conditions with this feature

cystic fibrosis
MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include progressive obstructive lung disease with bronchiectasis, frequent hospitalizations for pulmonary disease, pancreatic insufficiency and malnutrition, recurrent sinusitis and bronchitis, and male infertility. Pulmonary disease is the major cause of morbidity and mortality in CF. Meconium ileus occurs at birth in 15%-20% of newborns with CF. More than 95% of males with CF are infertile. Congenital absence of the vas deferens (CAVD) is generally identified during evaluation of infertility or as an incidental finding at the time of a surgical procedure. Hypoplasia or aplasia of the vas deferens and seminal vesicles may occur either bilaterally or unilaterally. Testicular development and function and spermatogenesis are usually normal.
dermatitis, atopic
MedGen UID:
41502
Concept ID:
C0011615
Disease or Syndrome
Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by Soderhall et al., 2007). Genetic Heterogeneity of Atopic Dermatitis Many inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 (605803) on chromosome 1q21, ATOD3 (605804) on chromosome 20p, ATOD4 (605805) on chromosome 17q25.3, ATOD5 (603165) on chromosome 13q12-q14, ATOD6 (605845) on chromosome 5q31-q33, ATOD7 (613064) on chromosome 11q13.5, ATOD8 (613518) on chromosome 4q22.1, and ATOD9 (613519) on chromosome 3p24.
mucopolysaccharidosis, mps-ii
MedGen UID:
7734
Concept ID:
C0026705
Disease or Syndrome
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with early progressive disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with slowly progressive disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be early progressive to the same degree as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the slowly progressing form of the disease. Additional findings in both forms of MPS II include: short stature; macrocephaly with or without communicating hydrocephalus; macroglossia; hoarse voice; conductive and sensorineural hearing loss; hepatosplenomegaly; dysostosis multiplex; spinal stenosis; and carpal tunnel syndrome.
ichthyosis vulgaris
MedGen UID:
38217
Concept ID:
C0079584
Disease or Syndrome
The phenotypic characteristics of ichthyosis vulgaris include palmar hyperlinearity, keratosis pilaris, and a fine scale that is most prominent over the lower abdomen, arms, and legs. Marked presentation includes prominent scaling, whereas mild presentation consists of palmar hyperlinearity, keratosis pilaris, and, in some cases, fine scaling (summary by Smith et al., 2006).
ehlers-danlos syndrome, unspecified autosomal dominant
MedGen UID:
65083
Concept ID:
C0220679
Disease or Syndrome
netherton syndrome
MedGen UID:
78578
Concept ID:
C0265962
Disease or Syndrome
Netherton syndrome is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy (summary by Bitoun et al., 2002).
alstrom syndrome
MedGen UID:
78675
Concept ID:
C0268425
Disease or Syndrome
Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), non-alcoholic fatty liver disease (NAFLD), and chronic progressive kidney disease. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Sensorineural hearing loss presents in the first decade in as many as 70% of individuals and may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to T2DM in the majority by the third decade. Nearly all demonstrate hypertriglyceridemia. Other findings can include endocrine abnormalities (hypothyroidism, hypogonadotropic hypogonadism in males, and hyperandrogenism in females), urologic dysfunction / detrusor instability, progressive decrease in renal function, and hepatic disease (ranging from elevated transaminases to steatohepatitis/NAFLD). Approximately 20% of affected individuals have delay in early developmental milestones, most commonly in gross and fine motor skills. About 30% have a learning disability. Cognitive impairment (IQ <70) is very rare. Wide clinical variability is observed among affected individuals, even within the same family.
prolidase deficiency
MedGen UID:
120647
Concept ID:
C0268532
Disease or Syndrome
Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic facial features, variable intellectual disability, and hepatomegaly with elevated liver enzymes and splenomegaly. Anemia, thrombocytopenia, hypergammaglobulinemia, and hypocomplementemia are common. An association between systemic lupus erythematosus (SLE) and prolidase deficiency has been described.
deletion of long arm of chromosome 18
MedGen UID:
96605
Concept ID:
C0432443
Disease or Syndrome
Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.
bardet-biedl syndrome
MedGen UID:
156019
Concept ID:
C0752166
Disease or Syndrome
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.\n\nVision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood.\n\nObesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia).\n\nOther major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. Most affected males produce reduced amounts of sex hormones (hypogonadism), and they are usually unable to father biological children (infertile). Many people with Bardet-Biedl syndrome also have kidney abnormalities, which can be serious or life-threatening.\n\nAdditional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. Distinctive facial features, dental abnormalities, unusually short or fused fingers or toes, and a partial or complete loss of the sense of smell (anosmia) have also been reported in some people with Bardet-Biedl syndrome. Additionally, this condition can affect the heart, liver, and digestive system.
deficiency of transaldolase
MedGen UID:
224855
Concept ID:
C1291329
Disease or Syndrome
Transaldolase deficiency (TALDOD) is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular face, loose wrinkly skin at birth, and development of progressive liver failure (summary by Lee-Barber et al., 2019).
ige responsiveness, atopic
MedGen UID:
327063
Concept ID:
C1840253
Disease or Syndrome
autoimmune lymphoproliferative syndrome type 2b
MedGen UID:
339548
Concept ID:
C1846545
Disease or Syndrome
Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral infections (summary by Madkaikar et al., 2011).
peeling skin syndrome 1
MedGen UID:
336530
Concept ID:
C1849193
Disease or Syndrome
Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985). Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013). Genetic Heterogeneity of Peeling Skin Syndrome Peeling skin syndrome-2 (PSS2; 609796), an acral form of the disorder that mainly involves palmar and plantar skin, is caused by mutation in the TGM5 gene (603805) on chromosome 15q15. Peeling skin syndrome-3 (PSS3; 616265) is caused by mutation in the CHST8 gene (610190) on chromosome 19q13. Peeling skin syndrome-4 (PSS4; 607936) is caused by mutation in the CSTA gene (184600) on chromosome 3q21. Peeling skin syndrome-5 (PSS5; 617115) is caused by mutation in the SERPINB8 gene (601697) on chromosome 18q22. PSS6 (618084) is caused by mutation in the FLG2 gene (616284) on chromosome 1q21.
asthma, short stature, and elevated iga
MedGen UID:
395313
Concept ID:
C1859647
Disease or Syndrome
asthma, nasal polyps, and aspirin intolerance
MedGen UID:
347198
Concept ID:
C1859648
Disease or Syndrome
severe combined immunodeficiency due to ada deficiency
MedGen UID:
354935
Concept ID:
C1863236
Disease or Syndrome
Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The clinical phenotypic spectrum includes: Severe combined immunodeficiency disease (SCID), often diagnosed by age six months and usually by age 12 months; Less severe "delayed" onset combined immune deficiency (CID), usually diagnosed between age one and ten years; "Late/adult onset" CID, diagnosed in the second to fourth decades; Benign "partial ADA deficiency" (very low or absent ADA activity in erythrocytes but greater ADA activity in nucleated cells), which is compatible with normal immune function. Infants with typical early-onset ADA-deficient SCID have failure to thrive and opportunistic infections associated with marked depletion of T, B, and NK lymphocytes, and an absence of both humoral and cellular immune function. If immune function is not restored, children with ADA-deficient SCID rarely survive beyond age one to two years. Infections in delayed- and late-onset types (commonly, recurrent otitis, sinusitis, and upper respiratory) may initially be less severe than those in individuals with ADA-deficient SCID; however, by the time of diagnosis these individuals often have chronic pulmonary insufficiency and may have autoimmune phenomena (cytopenias, anti-thyroid antibodies), allergies, and elevated serum concentration of IgE. The longer the disorder goes unrecognized, the more immune function deteriorates and the more likely are chronic sequelae of recurrent infection.
dermatitis, atopic, 1
MedGen UID:
350353
Concept ID:
C1864155
Disease or Syndrome
trichothiodystrophy 1, photosensitive
MedGen UID:
355730
Concept ID:
C1866504
Disease or Syndrome
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of Trichothiodystrophy Also see TTD2 (616390), caused by mutation in the ERCC3/XPB gene (133510); TTD3 (616395), caused by mutation in the GTF2H5 gene (608780); TTD4 (234050), caused by mutation in the MPLKIP gene (609188); TTD5 (300953), caused by mutation in the RNF113A gene (300951); TTD6 (616943), caused by mutation in the GTF2E2 gene (189964); and TTD7 (618546), caused by mutation in the TARS gene (187790).
asthma, susceptibility to
MedGen UID:
358271
Concept ID:
C1869116
Finding
Bronchial asthma is the most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006). See 147050 for information on the asthma-associated phenotype atopy.
choreoathetosis, hypothyroidism, and neonatal respiratory distress
MedGen UID:
369694
Concept ID:
C1970269
Disease or Syndrome
NKX2-1-related disorders range from benign hereditary chorea (BHC) to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (also known as brain-lung-thyroid syndrome). Childhood-onset chorea, the hallmark of NKX2-1-related disorders, may or may not be associated with respiratory distress syndrome or congenital hypothyroidism. Chorea generally begins in early infancy or about age one year (most commonly) or in late childhood or adolescence, and progresses into the second decade after which it remains static or (rarely) remits. Pulmonary disease, the second most common manifestation, can include respiratory distress syndrome in neonates, interstitial lung disease in young children, and pulmonary fibrosis in older persons. The risk for pulmonary carcinoma is increased in young adults with an NKX2-1-related disorder. Thyroid dysfunction, the result of dysembryogenesis, can present as congenital hypothyroidism or compensated hypothyroidism. The risk for thyroid cancer is unknown and may not be increased. In one review, 50% of affected individuals had the full brain-lung-thyroid syndrome, 30% had involvement of brain and thyroid only, and 13% had isolated chorea only.
exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
MedGen UID:
436369
Concept ID:
C2675184
Disease or Syndrome
This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
bardet-biedl syndrome 1
MedGen UID:
422452
Concept ID:
C2936862
Disease or Syndrome
Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl Syndrome BBS1 is caused by mutation in a gene on chromosome 11q13 (209901); BBS2 (615981), by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by the MKKS gene on 20p12 (604896), mutations in which also cause McKusick-Kaufman syndrome (236700); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23, mutations in which also cause Meckel syndrome-1 (249000); BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, mutations in which also cause Meckel syndrome-4 (611134) and several other disorders; BBS15 (615992), by mutation in the C2ORF86 gene (613580), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (613615); BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (617119), by mutation in the IFT74 gene (608040) on 9p21; and BBS21 (617406), by mutation in the C8ORF37 gene (614477). The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes. Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001). Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation.
arthrogryposis, perthes disease, and upward gaze palsy
MedGen UID:
481939
Concept ID:
C3280309
Disease or Syndrome
ichthyosis, spastic quadriplegia, and mental retardation
MedGen UID:
482486
Concept ID:
C3280856
Disease or Syndrome
ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).
familial cold autoinflammatory syndrome 3
MedGen UID:
482544
Concept ID:
C3280914
Disease or Syndrome
Familial cold autoinflammatory syndrome-2 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012). For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100).
common variable immunodeficiency 8, with autoimmunity
MedGen UID:
766426
Concept ID:
C3553512
Disease or Syndrome
Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
common variable immunodeficiency 10
MedGen UID:
816321
Concept ID:
C3809991
Disease or Syndrome
Common variable immunodeficiency-10 (CVID10) is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
immunodeficiency 23
MedGen UID:
862808
Concept ID:
C4014371
Disease or Syndrome
IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity (summary by Bjorksten and Lundmark, 1976 and Zhang et al., 2014).
ectodermal dysplasia/short stature syndrome
MedGen UID:
863424
Concept ID:
C4014987
Disease or Syndrome
A rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have also been observed.
ciliary dyskinesia, primary, 30
MedGen UID:
863453
Concept ID:
C4015016
Disease or Syndrome
trichothiodystrophy 3, photosensitive
MedGen UID:
865608
Concept ID:
C4017171
Disease or Syndrome
Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). For a discussion of genetic heterogeneity of TTD, see 601675.
myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to
MedGen UID:
895780
Concept ID:
C4225174
Finding
Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS; 614286) and/or acute myeloid leukemia (AML; 601626). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).
seckel syndrome 9
MedGen UID:
907155
Concept ID:
C4225212
Disease or Syndrome
rhizomelic chondrodysplasia punctata type 5
MedGen UID:
900333
Concept ID:
C4225237
Disease or Syndrome
Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100.
yao syndrome
MedGen UID:
934587
Concept ID:
C4310620
Disease or Syndrome
Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (and Shen, 2017).
immunodeficiency 11b with atopic dermatitis
MedGen UID:
1627819
Concept ID:
C4539957
Disease or Syndrome
IMD11B is an autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia (summary by Ma et al., 2017).
hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive
MedGen UID:
1648410
Concept ID:
C4722305
Disease or Syndrome
Autosomal dominant hyper-IgE recurrent infection syndrome-1 (HIES1; 147060) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999). Autosomal recessive HIES2 shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES1 by the lack of connective tissue and skeletal involvement (Renner et al., 2004). See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006). For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see 147060.
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
MedGen UID:
1648327
Concept ID:
C4748152
Disease or Syndrome
severe combined immunodeficiency due to carmil2 deficiency
MedGen UID:
1648422
Concept ID:
C4748304
Disease or Syndrome
Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018).
spondyloepimetaphyseal dysplasia, krakow type
MedGen UID:
1648323
Concept ID:
C4748455
Disease or Syndrome
Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018).
pontocerebellar hypoplasia, type 13
MedGen UID:
1684708
Concept ID:
C5231425
Disease or Syndrome
Pontocerebellar hypoplasia type 13 (PCH13) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable (summary by Uwineza et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).
catifa syndrome
MedGen UID:
1684686
Concept ID:
C5231492
Disease or Syndrome
CATIFA syndrome is characterized by global developmental delay and impaired intellectual development ranging from mild to severe, with most patients exhibiting attention-deficit hyperactivity disorder (ADHD). Patients show an elongated face with long philtrum and small ears. Ocular anomalies include congenital cataracts, strabismus, and amblyopia, which may be associated with reduced vision; other anomalies include cleft lip and/or palate and misaligned teeth with extensive caries (Unlu et al., 2020).
autoinflammation, immune dysregulation, and eosinophilia
MedGen UID:
1750270
Concept ID:
C5436572
Disease or Syndrome
Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant disorder characterized by onset of severe atopic dermatitis and chronic gastrointestinal inflammation, mainly involving the colon, in infancy or early childhood. Affected individuals tend to have asthma and food or environmental allergies, as well as poor overall growth with short stature. Laboratory studies show increased eosinophils with normal IgE levels, as well as evidence of a hyperactive immune state, including increased erythrocyte sedimentation rate and C-reactive protein. Treatment with JAK inhibitors, such as ruxolitinib and tofacitinib, results in dramatic clinical improvement (summary by Gruber et al., 2020).

Recent clinical studies

Etiology

Menzies-Gow A, Busse WW, Castro M, Jackson DJ
J Allergy Clin Immunol Pract 2021 Jul;9(7):2578-2586. doi: 10.1016/j.jaip.2021.05.016. PMID: 34246434
Nwaru BI, Shah SA, Tibble H, Pillinger R, McLean S, Ryan D, Critchley H, Hawrylowicz CM, Simpson CR, Soyiri IN, Appiagyei F, Price D, Sheikh A
J Allergy Clin Immunol Pract 2021 Jul;9(7):2751-2760.e1. Epub 2021 Mar 8 doi: 10.1016/j.jaip.2021.02.052. PMID: 33705997
Liu S, Lim YH, Pedersen M, Jørgensen JT, Amini H, Cole-Hunter T, Mehta AJ, So R, Mortensen LH, Westendorp RGJ, Loft S, Bräuner EV, Ketzel M, Hertel O, Brandt J, Jensen SS, Christensen JH, Sigsgaard T, Geels C, Frohn LM, Brborić M, Radonić J, Sekulic MT, Bønnelykke K, Backalarz C, Simonsen MK, Andersen ZJ
Environ Int 2021 Jul;152:106464. Epub 2021 Mar 5 doi: 10.1016/j.envint.2021.106464. PMID: 33684733
Baggott C, Hansen P, Hancox RJ, Hardy JK, Sparks J, Holliday M, Weatherall M, Beasley R, Reddel HK, Fingleton J; PRACTICAL discrete choice experiment study team.
Thorax 2020 Oct;75(10):842-848. Epub 2020 Jul 27 doi: 10.1136/thoraxjnl-2019-214343. PMID: 32719055
Sullivan PW, Kavati A, Ghushchyan VH, Lanz MJ, Ortiz B, Maselli DJ, LeCocq J
J Asthma 2020 Nov;57(11):1263-1272. Epub 2019 Jul 30 doi: 10.1080/02770903.2019.1645168. PMID: 31311356

Diagnosis

Denton E, Price DB, Tran TN, Canonica GW, Menzies-Gow A, FitzGerald JM, Sadatsafavi M, Perez de Llano L, Christoff G, Quinton A, Rhee CK, Brusselle G, Ulrik C, Lugogo N, Hore-Lacy F, Chaudhry I, Bulathsinhala L, Murray RB, Carter VA, Hew M
J Allergy Clin Immunol Pract 2021 Jul;9(7):2680-2688.e7. Epub 2021 Mar 18 doi: 10.1016/j.jaip.2021.02.059. PMID: 33744476
Jackson DJ, Busby J, Pfeffer PE, Menzies-Gow A, Brown T, Gore R, Doherty M, Mansur AH, Message S, Niven R, Patel M, Heaney LG; UK Severe Asthma Registry.
Thorax 2021 Mar;76(3):220-227. Epub 2020 Dec 9 doi: 10.1136/thoraxjnl-2020-215168. PMID: 33298582Free PMC Article
Zhu T, Zhang X, Chen X, Brown AP, Weirauch MT, Guilbert TW, Khurana Hershey GK, Biagini JM, Ji H
Allergy 2021 Jun;76(6):1836-1845. Epub 2020 Nov 25 doi: 10.1111/all.14655. PMID: 33175399Free PMC Article
Maltby S, McDonald VM, Upham JW, Bowler SD, Chung LP, Denton EJ, Fingleton J, Garrett J, Grainge CL, Hew M, James AL, Jenkins C, Katsoulotos G, King GG, Langton D, Marks GB, Menzies-Gow A, Niven RM, Peters M, Reddel HK, Thien F, Thomas PS, Wark PAB, Yap E, Gibson PG; Severe Asthma Expert Forum contributors.
Intern Med J 2021 Feb;51(2):169-180. doi: 10.1111/imj.14806. PMID: 32104958
Sullivan PW, Kavati A, Ghushchyan VH, Lanz MJ, Ortiz B, Maselli DJ, LeCocq J
J Asthma 2020 Nov;57(11):1263-1272. Epub 2019 Jul 30 doi: 10.1080/02770903.2019.1645168. PMID: 31311356

Therapy

Liu S, Lim YH, Pedersen M, Jørgensen JT, Amini H, Cole-Hunter T, Mehta AJ, So R, Mortensen LH, Westendorp RGJ, Loft S, Bräuner EV, Ketzel M, Hertel O, Brandt J, Jensen SS, Christensen JH, Sigsgaard T, Geels C, Frohn LM, Brborić M, Radonić J, Sekulic MT, Bønnelykke K, Backalarz C, Simonsen MK, Andersen ZJ
Environ Int 2021 Jul;152:106464. Epub 2021 Mar 5 doi: 10.1016/j.envint.2021.106464. PMID: 33684733
Jeffery MM, Inselman JW, Maddux JT, Lam RW, Shah ND, Rank MA
J Allergy Clin Immunol Pract 2021 Jul;9(7):2742-2750.e1. Epub 2021 Feb 27 doi: 10.1016/j.jaip.2021.02.031. PMID: 33652135Free PMC Article
Yang F, Busby J, Heaney LG, Menzies-Gow A, Pfeffer PE, Jackson DJ, Mansur AH, Siddiqui S, Brightling CE, Niven R, Thomson NC, Chaudhuri R; UK Severe Asthma Registry.
J Allergy Clin Immunol Pract 2021 Jul;9(7):2691-2701.e1. Epub 2021 Jan 15 doi: 10.1016/j.jaip.2020.12.062. PMID: 33460858
Carlsson CJ, Rasmussen MA, Pedersen SB, Wang N, Stokholm J, Chawes BL, Bønnelykke K, Bisgaard H
Allergy 2021 Jun;76(6):1754-1764. Epub 2020 Nov 20 doi: 10.1111/all.14651. PMID: 33150590
Baggott C, Hansen P, Hancox RJ, Hardy JK, Sparks J, Holliday M, Weatherall M, Beasley R, Reddel HK, Fingleton J; PRACTICAL discrete choice experiment study team.
Thorax 2020 Oct;75(10):842-848. Epub 2020 Jul 27 doi: 10.1136/thoraxjnl-2019-214343. PMID: 32719055

Prognosis

Denton E, Price DB, Tran TN, Canonica GW, Menzies-Gow A, FitzGerald JM, Sadatsafavi M, Perez de Llano L, Christoff G, Quinton A, Rhee CK, Brusselle G, Ulrik C, Lugogo N, Hore-Lacy F, Chaudhry I, Bulathsinhala L, Murray RB, Carter VA, Hew M
J Allergy Clin Immunol Pract 2021 Jul;9(7):2680-2688.e7. Epub 2021 Mar 18 doi: 10.1016/j.jaip.2021.02.059. PMID: 33744476
Liu S, Lim YH, Pedersen M, Jørgensen JT, Amini H, Cole-Hunter T, Mehta AJ, So R, Mortensen LH, Westendorp RGJ, Loft S, Bräuner EV, Ketzel M, Hertel O, Brandt J, Jensen SS, Christensen JH, Sigsgaard T, Geels C, Frohn LM, Brborić M, Radonić J, Sekulic MT, Bønnelykke K, Backalarz C, Simonsen MK, Andersen ZJ
Environ Int 2021 Jul;152:106464. Epub 2021 Mar 5 doi: 10.1016/j.envint.2021.106464. PMID: 33684733
Zhu T, Zhang X, Chen X, Brown AP, Weirauch MT, Guilbert TW, Khurana Hershey GK, Biagini JM, Ji H
Allergy 2021 Jun;76(6):1836-1845. Epub 2020 Nov 25 doi: 10.1111/all.14655. PMID: 33175399Free PMC Article
Carlsson CJ, Rasmussen MA, Pedersen SB, Wang N, Stokholm J, Chawes BL, Bønnelykke K, Bisgaard H
Allergy 2021 Jun;76(6):1754-1764. Epub 2020 Nov 20 doi: 10.1111/all.14651. PMID: 33150590
Papadopoulos NG, Custovic A, Deschildre A, Mathioudakis AG, Phipatanakul W, Wong G, Xepapadaki P, Agache I, Bacharier L, Bonini M, Castro-Rodriguez JA, Chen Z, Craig T, Ducharme FM, El-Sayed ZA, Feleszko W, Fiocchi A, Garcia-Marcos L, Gern JE, Goh A, Gómez RM, Hamelmann EH, Hedlin G, Hossny EM, Jartti T, Kalayci O, Kaplan A, Konradsen J, Kuna P, Lau S, Le Souef P, Lemanske RF, Mäkelä MJ, Morais-Almeida M, Murray C, Nagaraju K, Namazova-Baranova L, Garcia AN, Yusuf OM, Pitrez PMC, Pohunek P, Pozo Beltrán CF, Roberts GC, Valiulis A, Zar HJ; Pediatric Asthma in Real Life Collaborators.
J Allergy Clin Immunol Pract 2020 Sep;8(8):2592-2599.e3. Epub 2020 Jun 17 doi: 10.1016/j.jaip.2020.06.001. PMID: 32561497Free PMC Article

Clinical prediction guides

Denton E, Price DB, Tran TN, Canonica GW, Menzies-Gow A, FitzGerald JM, Sadatsafavi M, Perez de Llano L, Christoff G, Quinton A, Rhee CK, Brusselle G, Ulrik C, Lugogo N, Hore-Lacy F, Chaudhry I, Bulathsinhala L, Murray RB, Carter VA, Hew M
J Allergy Clin Immunol Pract 2021 Jul;9(7):2680-2688.e7. Epub 2021 Mar 18 doi: 10.1016/j.jaip.2021.02.059. PMID: 33744476
Jeffery MM, Inselman JW, Maddux JT, Lam RW, Shah ND, Rank MA
J Allergy Clin Immunol Pract 2021 Jul;9(7):2742-2750.e1. Epub 2021 Feb 27 doi: 10.1016/j.jaip.2021.02.031. PMID: 33652135Free PMC Article
Yang F, Busby J, Heaney LG, Menzies-Gow A, Pfeffer PE, Jackson DJ, Mansur AH, Siddiqui S, Brightling CE, Niven R, Thomson NC, Chaudhuri R; UK Severe Asthma Registry.
J Allergy Clin Immunol Pract 2021 Jul;9(7):2691-2701.e1. Epub 2021 Jan 15 doi: 10.1016/j.jaip.2020.12.062. PMID: 33460858
Zhu T, Zhang X, Chen X, Brown AP, Weirauch MT, Guilbert TW, Khurana Hershey GK, Biagini JM, Ji H
Allergy 2021 Jun;76(6):1836-1845. Epub 2020 Nov 25 doi: 10.1111/all.14655. PMID: 33175399Free PMC Article
Sullivan PW, Kavati A, Ghushchyan VH, Lanz MJ, Ortiz B, Maselli DJ, LeCocq J
J Asthma 2020 Nov;57(11):1263-1272. Epub 2019 Jul 30 doi: 10.1080/02770903.2019.1645168. PMID: 31311356

Recent systematic reviews

Wang G, Han D, Jiang Z, Li M, Yang S, Liu L
BMJ Open 2021 May 28;11(5):e043956. doi: 10.1136/bmjopen-2020-043956. PMID: 34049905Free PMC Article
Liu X, Wang Y, Chen C, Liu K
Microb Pathog 2021 Jun;155:104893. Epub 2021 Apr 29 doi: 10.1016/j.micpath.2021.104893. PMID: 33932544
Tsabouri S, Lavasidis G, Efstathiadou A, Papasavva M, Bellou V, Bergantini H, Priftis K, Ntzani EE
Eur J Pediatr 2021 Jul;180(7):2007-2017. Epub 2021 Feb 17 doi: 10.1007/s00431-021-03975-7. PMID: 33598756
Doshi H, Hsia B, Shahani J, Mowrey W, Jariwala SP
J Allergy Clin Immunol Pract 2021 Jun;9(6):2336-2341. Epub 2021 Feb 4 doi: 10.1016/j.jaip.2021.01.027. PMID: 33548519
Hassan M, Davies SE, Trethewey SP, Mansur AH
J Asthma 2020 Dec;57(12):1379-1388. Epub 2019 Jul 30 doi: 10.1080/02770903.2019.1645169. PMID: 31311359

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