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Items: 1 to 20 of 94

1.

Carpal tunnel syndrome 2

Carpal tunnel syndrome-2 (CTS2) is characterized by the relatively early onset of symptoms of median nerve compression in the wrist. Patients experience pain and numbness in the thumb, index, and middle fingers, correlating with the median nerve distribution in the hand. In addition to thickening of the tendons and ligaments of the wrist, thickening of other tendons has been observed (Li et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of carpal tunnel syndrome, see CTS1 (115430). [from OMIM]

MedGen UID:
1725962
Concept ID:
C5436916
Disease or Syndrome
2.

Neurodevelopmental disorder with microcephaly and structural brain anomalies

MedGen UID:
1677276
Concept ID:
C5193123
Disease or Syndrome
3.

Leber congenital amaurosis with early-onset deafness

Leber congenital amaurosis with early-onset deafness is an autosomal dominant syndrome manifesting as early-onset and severe photoreceptor and cochlear cell loss. Some patients show extinguished responses on electroretinography and moderate to severe hearing loss at birth (Luscan et al., 2017). [from OMIM]

MedGen UID:
1646810
Concept ID:
C4693498
Disease or Syndrome
4.

Keratoconus 9

Keratoconus-9, a degenerative corneal disease with onset during adolescence, is characterized by corneal ectasia, thinning, and cone-shaped protrusion that results in reduced vision (Hao et al., 2017). For a discussion of genetic heterogeneity of keratoconus, see 148300. [from OMIM]

MedGen UID:
1645093
Concept ID:
C4693660
Disease or Syndrome
5.

Epileptic encephalopathy, infantile or early childhood 3

Developmental and epileptic encephalopathy (DEE93) is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018). For a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

MedGen UID:
1642888
Concept ID:
C4693934
Disease or Syndrome
6.

Ehlers-Danlos syndrome, periodontal type, 1

Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. Since the first descriptions of pEDS in the 1970s, 148 individuals have been reported in the literature; however, future in-depth descriptions of non-oral manifestations in newly diagnosed individuals with a molecularly confirmed diagnosis of pEDS will be important to further define the clinical features. [from GeneReviews]

MedGen UID:
1642148
Concept ID:
C4551499
Disease or Syndrome
7.

Symmetric circumferential skin creases, congenital, 1

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin Creases CSCSC2 (616734) is caused by mutation in the MAPRE2 gene (605789) on chromosome 18q12. [from OMIM]

MedGen UID:
1631916
Concept ID:
C4551592
Disease or Syndrome
8.

Facial palsy, congenital, with ptosis and velopharyngeal dysfunction

MedGen UID:
1623077
Concept ID:
C4540277
Disease or Syndrome
9.

Intellectual disability, autosomal dominant 48

MedGen UID:
1619532
Concept ID:
C4540321
Mental or Behavioral Dysfunction
10.

Autosomal recessive cutis laxa type 2C

Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). [from OMIM]

MedGen UID:
1385755
Concept ID:
C4479387
Disease or Syndrome
11.

Autosomal recessive cutis laxa type 2D

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). [from OMIM]

MedGen UID:
1376619
Concept ID:
C4479409
Disease or Syndrome
12.

INTERSTITIAL LUNG DISEASE 1

Interstitial lung disease (ILD) comprises a heterogeneous group of rare diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The manifestations form a spectrum ranging from idiopathic interstitial pneumonia (IIP) or pneumonitis to the more severe idiopathic pulmonary fibrosis (IPF). IPF is associated with an increased risk of developing lung cancer, which occurs in a subset of patients with ILD. Clinical features of ILD include dyspnea, clubbing of the fingers, and restrictive lung capacity. Imaging typically shows ground glass opacities and inter- and intraseptal thickening, while histologic studies usually show a pattern consistent with 'usual interstitial pneumonia' (UIP) (summary by Nathan et al., 2016, Doubkova et al., 2019). Genetic Heterogeneity of Interstitial Lung Disease See also ILD2 (178500), caused by mutation in the SFTPA2 gene (178642) on chromosome 10q22. [from OMIM]

MedGen UID:
986940
Concept ID:
CN304681
Disease or Syndrome
13.

Bleeding disorder, platelet-type, 24

Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). For a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see 187800. [from OMIM]

MedGen UID:
979721
Concept ID:
CN296335
Disease or Syndrome
14.

Glanzmann thrombasthenia 2

Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb (607759)/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene (Rosenberg et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see 273800. [from OMIM]

MedGen UID:
979439
Concept ID:
CN296334
Disease or Syndrome
15.

Immunodeficiency 47

Immunodeficiency-47 (IMD47) is an X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Some patients also have neurologic abnormalities (summary by Jansen et al., 2016). [from OMIM]

MedGen UID:
934786
Concept ID:
C4310819
Disease or Syndrome
16.

Hyperuricemic nephropathy, familial juvenile, 4

Autosomal dominant tubulointerstitial kidney disease-5 (ADTKD5) is characterized by the onset of progressive chronic renal disease in the first decades of life. Mild hyperuricemia may be present, but gout, hypertension, and proteinuria are usually absent. The disease may be associated with anemia or neutropenia. Some patients may have additional findings, including poor overall growth and impaired cognitive function. Renal biopsy shows tubulointerstitial abnormalities with atrophic tubules and fibrosis; secondary glomerular abnormalities and simple cysts may also be present (summary by Bolar et al., 2016). For a discussion of genetic heterogeneity and revised nomenclature of ADTKD, see ADTKD1 (162000). [from OMIM]

MedGen UID:
934708
Concept ID:
C4310741
Disease or Syndrome
17.

Immunodeficiency 46

MedGen UID:
906483
Concept ID:
C4225219
Disease or Syndrome
18.

Oocyte maturation defect 2

Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene. [from MONDO]

MedGen UID:
903836
Concept ID:
C4225210
Disease or Syndrome
19.

Zimmermann-Laband syndrome 2

Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene. [from MONDO]

MedGen UID:
897567
Concept ID:
C4225321
Disease or Syndrome
20.

Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia

A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. [from ORDO]

MedGen UID:
863949
Concept ID:
C4015512
Disease or Syndrome
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