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1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Brachydactyly type C
Multiple keratoacanthoma, Ferguson-Smith type

BMPR1B TGFBR1
GDF5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BMPR1B
(0.52)
TGFBR1



Citations in the biomedical literature:


Brachydactyly type C
BMPR1B GDF5
Multiple keratoacanthoma, Ferguson-Smith type
TGFBR1



Brachydactyly type C
Multiple keratoacanthoma, Ferguson-Smith type

Synonym(s):
(no synonyms)

Synonym(s):
- ESS1
- MSSE
- Multiple self-healing squamous epithelioma
- Self-healing squamous epithelioma type 1

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C537093
External references:
1 OMIM reference -
No MeSH references

Brachydactyly type C

Very frequent
- Autosomal dominant inheritance
- Metacarpal anomalies / Archibald's sign
- Short hand / brachydactyly
- Ulnar deviation of fingers

Frequent
- Cone epiphyses / epiphysis
- Short foot / brachydactyly of toes
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Clinodactyly of fifth finger
- Short stature / dwarfism / nanism
- Symphalangy of fingers
- Talipes-valgus


Multiple keratoacanthoma, Ferguson-Smith type

(no data available)