SYMPHALANGISM, PROXIMAL, 1A

General Information (adopted from Orphanet):

Synonyms, Signs: HEREDITARY ABSENCE OF THE PROXIMAL INTERPHALANGEAL JOINTS
CUSHING SYMPHALANGISM
SYM1A
SYM1
Number of Symptoms 8
OrphanetNr:
OMIM Id: 185800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000405) Conductive hearing impairment 164 / 7739
2
(HPO:0000381) Stapes ankylosis 7 / 7739
3
(HPO:0010047) Short 5th metacarpal 8 / 7739
4
(HPO:0008368) Tarsal synostosis 21 / 7739
5
(HPO:0009702) Carpal synostosis 26 / 7739
6
(HPO:0006152) Proximal symphalangism of hands 9 / 7739
7
(OMIM) Distal interphalangeal (DIP) joint synostoses (occasional) 1 / 7739
8
(OMIM) Normal intelligence 81 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Proximal symphalangism (SYM1) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness (summary by Takahashi et al., 2001).

- Genetic Heterogeneity of Proximal Symphalangism ...

Clinical Description OMIM Cushing (1916) described a large American family in which many members had ankylosis of the proximal interphalangeal joints and assigned the designation symphalangism to the disorder. Fusion of carpal and tarsal bones is also a feature (see 186400, ...
Molecular genetics OMIM Gong et al. (1999) demonstrated 5 dominant NOG mutations in 5 unrelated families segregating proximal symphalangism and a de novo mutation in a patient with unaffected parents. They also found a dominant NOG mutation in a family segregating ...