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Brachydactyly type C

1 OMIM reference -
2 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 1

Persistent MÃ¼llerian duct syndrome

1 OMIM reference -
2 associated genes
4 signs/symptoms

Brachydactyly type C

Persistent MÃ¼llerian duct syndrome

BMPR1B	(UniProt - OMIM)		AMH	(UniProt - OMIM)
GDF5	(UniProt - OMIM)		AMHR2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPR1B	(0.52)	AMHR2

Citations in the biomedical literature:

Brachydactyly type C		Persistent MÃ¼llerian duct syndrome
	Synonym(s): (no synonyms)		Synonym(s): - PMDS - Persistent MÃ¼llerian derivatives

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare infertility - Rare urogenital disease

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

	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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537093		External references: 1 OMIM reference - 1 MeSH reference: C536665

Brachydactyly type C		Persistent MÃ¼llerian duct syndrome
	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		Very frequent - Autosomal recessive inheritance - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Inguinal / inguinoscrotal / crural hernia - Male pseudohermaphrodism / lack of virilisation