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Results: 1 to 20 of 110

1.

Gingival fibromatosis 1

Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva (summary by Hart et al., 2002). Genetic Heterogeneity of Hereditary Gingival Fibromatosis Other loci for gingival fibromatosis have been mapped to chromosome 5q (GINGF2; 605544), chromosome 2p23.3-p22.3 (GINGF3; 609955), and chromosome 11p15 (GINGF4; 611010). There is some evidence for a locus on chromosome 2p16-p13 (see MAPPING). [from OMIM]

MedGen UID:
833898
Concept ID:
CN030594
Disease or Syndrome
2.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

MedGen UID:
833832
Concept ID:
CN230178
Disease or Syndrome
3.

Primary pulmonary hypertension 3

MedGen UID:
815522
Concept ID:
C3809192
Disease or Syndrome
4.

Cardiofaciocutaneous syndrome 4

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010). [from OMIM]

MedGen UID:
815337
Concept ID:
C3809007
Disease or Syndrome
5.

Cardiofaciocutaneous syndrome 3

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008). [from OMIM]

MedGen UID:
815336
Concept ID:
C3809006
Disease or Syndrome
6.

Cardiofaciocutaneous syndrome 2

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (164757)-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation. [from OMIM]

MedGen UID:
815335
Concept ID:
C3809005
Disease or Syndrome
7.

Activated PI3K-delta syndrome

Immunodeficiency-14 is an autosomal dominant primary immunodeficiency characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas (summary by Lucas et al., 2014). [from OMIM]

MedGen UID:
811535
Concept ID:
C3714976
Disease or Syndrome
8.

Inflammatory skin and bowel disease, neonatal, 2

MedGen UID:
807829
Concept ID:
CN220784
Disease or Syndrome
9.

Cardiomyopathy, dilated, 1NN

MedGen UID:
807537
Concept ID:
CN219641
Disease or Syndrome
10.

Immunodeficiency 36

MedGen UID:
807501
Concept ID:
CN219437
Disease or Syndrome
11.

Immunodeficiency 31a

IMD31A results from autosomal dominant (AD) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AD STAT1 deficiency selectively affects the IFNG pathway, but not the IFNA/IFNB pathway. Unlike autosomal recessive (AR) STAT1 deficiency (IMD31B; 613796), which affects both the IFNA/IFNB and IFNG pathways, AD STAT1 deficiency confers a predisposition to mycobacterial infections only, with no increased susceptibility to viral infections. Pathogens reported in IMD31A patients include bacillus Calmette-Guerin (BCG) and Mycobacterium avium complex, as well as Mycobacterium tuberculosis. IMD31A has low penetrance and a mild clinical phenotype with good prognosis for recovery (review by Al-Muhsen and Casanova, 2008). [from OMIM]

MedGen UID:
807414
Concept ID:
CN219205
Disease or Syndrome
12.

Deafness, autosomal recessive 102

MedGen UID:
807406
Concept ID:
CN219004
Disease or Syndrome
13.

Autoimmune disease, multisystem, infantile-onset

Infantile-onset multisystem autoimmune disease is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. The most common manifestations are insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty (summary by Flanagan et al., 2014). [from OMIM]

MedGen UID:
799886
Concept ID:
CN207828
Disease or Syndrome
14.

Agammaglobulinemia 7, autosomal recessive

MedGen UID:
767603
Concept ID:
C3554689
Disease or Syndrome
15.

Cowden syndrome 6

MedGen UID:
767433
Concept ID:
C3554519
Disease or Syndrome
16.

Cowden syndrome 5

MedGen UID:
767432
Concept ID:
C3554518
Disease or Syndrome
17.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated

Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is an autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies (summary by Zhou et al., 2012). [from OMIM]

MedGen UID:
766875
Concept ID:
C3553961
Disease or Syndrome
18.

Thrombocythemia 3

Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012). For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (187950). [from OMIM]

MedGen UID:
482755
Concept ID:
C3281125
Disease or Syndrome
19.

Familial cold autoinflammatory syndrome 3

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). [from OMIM]

MedGen UID:
482544
Concept ID:
C3280914
Disease or Syndrome
20.

Immunodeficiency 31C

Immunodeficiency-31C is an autosomal dominant disorder of immunologic dysregulation with highly variable manifestations. Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis. Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG; 147570)-mediated inflammation (summary by Uzel et al., 2013 and Sampaio et al., 2013). [from OMIM]

MedGen UID:
481620
Concept ID:
C3279990
Disease or Syndrome

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