Cytoscape Web
Click node...


6 OMIM references -
5 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Split hand-split foot malformation
Aneurysm - osteoarthritis syndrome

BTRC SMAD3
FBXW4
SHFM1
TP63
WNT10B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BTRC
TP63
(0.83)
(0.63)
SMAD3
SMAD3



Citations in the biomedical literature:


Split hand-split foot malformation
BTRC FBXW4 SHFM1 TP63 WNT10B
Aneurysm - osteoarthritis syndrome
SMAD3



Split hand-split foot malformation
Aneurysm - osteoarthritis syndrome

Synonym(s):
- Ectrodactyly
- Lobster-claw deformity
- SHFM
- Split hand foot malformation

Synonym(s):
- AOS
- Loeys-Dietz syndrome with osteoarthritis

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Split hand-split foot malformation

Very frequent
- Autosomal dominant inheritance
- Oligodactyly / ectrodactyly of fingers

Frequent
- Syndactyly of fingers / interdigital palm

Occasional
- Aniridia / iris hypoplasia
- Autosomal recessive inheritance
- Hand agenesis / absence
- Sensorineural deafness / hearing loss
- Trident hand / split hand / abnormal median ray
- X-linked recessive inheritance


Aneurysm - osteoarthritis syndrome

(no data available)