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1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
16 OMIM references -
4 associated genes
No signs/symptoms info
Brachydactyly type C
Early-onset autosomal dominant Alzheimer disease

BMPR1B APP
GDF5 PSEN1
PSEN2
SORL1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BMPR1B
(0.56)
APP



Citations in the biomedical literature:


Brachydactyly type C
BMPR1B GDF5
Early-onset autosomal dominant Alzheimer disease
APP PSEN1 PSEN2 SORL1



Brachydactyly type C
Early-onset autosomal dominant Alzheimer disease

Synonym(s):
(no synonyms)

Synonym(s):
- EOFAD
- Early-onset familial autosomal dominant Alzheimer disease
- Familial Alzheimer disease

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C537093
External references:
16 OMIM references -
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


Early-onset autosomal dominant Alzheimer disease

(no data available)