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Results: 12

1.

Common variable immunodeficiency 10

Common variable immune deficiency (CVID) is characterized by humoral immune deficiency with onset after age 24 months and usually in young adulthood, resulting in increased susceptibility to infections and diminished responses to protein and polysaccharide vaccines. The most common infections are sinopulmonary and include Streptococcus pneumonia, Hemophilis influenza, Klebsiella pneumonia, and sometimes mycoplasma infections. Individuals may experience meningitis or other systemic bacterial infections, recurrent eye or skin infections, or gastrointestinal symptoms related to compromised immune/gut homeostasis, including chronic diarrhea, malabsorption, or bloating. They may also have abnormal T-cell function and immune dysregulation, including lymphoid hyperplasia, gastrointestinal inflammation, autoimmune phenomena, and susceptibility to malignancy, especially lymphomas. [from GeneReviews]

MedGen UID:
776759
Concept ID:
CN185293
Disease or Syndrome
2.

IMMUNODEFICIENCY 15

Immunodeficiency-15 (IMD15) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by Pannicke et al., 2013). [from OMIM]

MedGen UID:
775831
Concept ID:
CN183073
Disease or Syndrome
3.

Cocoon syndrome

MedGen UID:
462241
Concept ID:
C3150891
Disease or Syndrome
4.

Hypohidrotic ectodermal dysplasia with immune deficiency

Hypohidrotic ectodermal dysplasia (HED; 305100), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant (129490) and autosomal recessive (224900) forms exist. [from OMIM]

MedGen UID:
375786
Concept ID:
C1846006
Disease or Syndrome
5.

Invasive pneumococcal disease, recurrent isolated, 2

MedGen UID:
375575
Concept ID:
C1845073
Disease or Syndrome
6.

X-linked familial atypical mycobacteriosis, type 1

Mendelian susceptibility to mycobacterial disease is a congenital syndrome resulting in predisposition to clinical disease caused by weakly virulent mycobacterial species, such as bacillus Calmette-Guerin (BCG) vaccines and nontuberculous, environmental mycobacteria. Patients are also susceptible to the more virulent species Mycobacterium tuberculosis (Filipe-Santos et al., 2006). For further information on susceptibility to mycobacterial disease, as well as for information on susceptibility to mycobacterial disease due to mutations in several autosomal genes, see 209950. For information on X-linked susceptibility to mycobacterial disease in which mutations in the NEMO gene have been excluded, see 300645. [from OMIM]

MedGen UID:
370376
Concept ID:
C1970879
Disease or Syndrome
7.

Susceptibility to malaria

Malaria, a major cause of child mortality worldwide, is caused by mosquito-borne hematoprotozoan parasites of the genus Plasmodium. Of the 4 species that infect humans, P. falciparum causes the most severe forms of malaria and is the major cause of death and disease. Although less fatal, P. malariae, P. ovale, and, in particular, P. vivax infections are major causes of morbidity. The parasite cycle involves a first stage in liver cells and a subsequent stage at erythrocytes, when malaria symptoms occur. A wide spectrum of phenotypes are observed, from asymptomatic infection to mild disease, including fever and mild anemia, to severe disease, including cerebral malaria, profound anemia, and respiratory distress. Genetic factors influence the response to infection, as well as disease progression and severity. Malaria is the strongest known selective pressure in the recent history of the human genome, and it is the evolutionary driving force behind sickle-cell disease (603903), thalassemia (see 141800), glucose-6-phosphatase deficiency (300908), and other erythrocyte defects that together constitute the most common mendelian diseases of humans (Kwiatkowski, 2005; Campino et al., 2006). [from OMIM]

MedGen UID:
370149
Concept ID:
C1970028
Finding
8.

Asthma, susceptibility to

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. [from OMIM]

MedGen UID:
358271
Concept ID:
C1869116
Finding
9.

Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema

Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In these people, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. In affected individuals who develop signs and symptoms, the major features of the condition include multiple bone fractures, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence. Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood. Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy). A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis. Rarely, osteopetrosis can have an X-linked pattern of inheritance. In addition to abnormally dense bones, the X-linked form of the disorder is characterized by abnormal swelling caused by a buildup of fluid (lymphedema) and a condition called anhydrotic ectodermal dysplasia that affects the skin, hair, teeth, and sweat glands. Affected individuals also have a malfunctioning immune system (immunodeficiency), which allows severe, recurrent infections to develop. Researchers often refer to this condition as OL-EDA-ID, an acronym derived from each of the major features of the disorder.
[from GHR]

MedGen UID:
337348
Concept ID:
C1845919
Disease or Syndrome
10.

Immunodeficiency without anhidrotic ectodermal dysplasia

MedGen UID:
337162
Concept ID:
C1845117
Disease or Syndrome
11.

Migraine

Migraine is the most common type of chronic, episodic headache, as summarized by Featherstone (1985). One locus for migraine with or without aura (MGR1) has been identified on chromosome 4q24. Other loci for migraine have been identified on 6p21.1-p12.2 (MGR3; 607498), 14q21.2-q22.3 (MGR4; 607501), 19p13 (MGR5; 607508), 1q31 (MGR6; 607516), 15q11-q13 (MGR7; 609179), 5q21 (with or without aura, MGR8, 609570; with aura, MGR9, 609670), 17p13 (MGR10; 610208), 18q12 (MGR11; 610209), 10q22-q23 (MGR12; 611706), and the X chromosome (MGR2; 300125). Mutation in the KCNK18 gene (613655) on chromosome 10q25 causes migraine with aura (MGR13; 613656). A subtype of autosomal dominant migraine with aura (MA), familial hemiplegic migraine (FHM; see 141500), is caused by mutation in the CACNA1A gene (601011) on chromosome 19p13 (FHM1; 141500), by mutation in the ATP1A2 gene (182340) on chromosome 1q21 (FHM2; 602481), or by mutation in the SCN1A gene (182389) on chromosome 2q24 (FHM3; 609634). Another locus for FHM has been mapped to chromosome 1q31 (FHM4; see 607516). There is evidence that a polymorphism in the estrogen receptor gene (ESR1; 133430.0005) and a polymorphism in the TNF gene (191160.0004) may confer susceptibility to migraine. A polymorphism in the endothelin receptor type A gene (EDNRA; 131243.0001) may confer resistance to migraine. [from OMIM]

MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
12.

Incontinentia pigmenti syndrome

Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, nails, eyes, and central nervous system. Characteristic skin lesions evolve through four stages: I. blistering (birth to age ~4 months); II. a wart-like rash (for several months); III. swirling macular hyperpigmentation (age ~6 months into adulthood); and IV. linear hypopigmentation. Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Neovascularization of the retina, present in some individuals, predisposes to retinal detachment. Neurologic findings including cognitive delays/intellectual disability are occasionally seen. [from GeneReviews]

MedGen UID:
7049
Concept ID:
C0021171
Congenital Abnormality

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