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Brachydactyly type C

1 OMIM reference -
2 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

46,XX gonadal dysgenesis

3 OMIM references -
4 associated genes
16 signs/symptoms

Brachydactyly type C

46,XX gonadal dysgenesis

BMPR1B	(UniProt - OMIM)		BMP15	(UniProt - OMIM)
GDF5	(UniProt - OMIM)		FSHR	(UniProt - OMIM)
			NR5A1	(UniProt - OMIM)
			PSMC3IP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPR1B	(0.52)	BMP15

Citations in the biomedical literature:

Brachydactyly type C		46,XX gonadal dysgenesis
	Synonym(s): (no synonyms)		Synonym(s): - 46,XX complete gonadal dysgenesis - 46,XX ovarian dysgenesis - 46,XX pure gonadal dysgenesis - FSH-RO - Follicular stimulating hormone-resistant ovaries - Hypergonadotropic ovarian dysgenesis - XX female gonadal dysgenesis - XX-GD

	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 gynecologic or obstetric 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: 1-9 / 100 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537093		External references: 3 OMIM references - 1 MeSH reference: D023961


COMMON SIGNS	- Autosomal dominant inheritance - Short stature / dwarfism / nanism

Brachydactyly type C		46,XX gonadal dysgenesis
	Very frequent - 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 - Symphalangy of fingers - Talipes-valgus		Very frequent - Abnormal / polycystic ovaries - Late puberty / hypogonadism / hypogenitalism - Primary amenorrhea - Sterility / hypofertility Frequent - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Hearing loss / hypoacusia / deafness - Long hand / arachnodactyly - Lung fibrosis - Metabolic anomalies - Microcephaly - Precocious menopause / secondary amenorrhea - X-linked recessive inheritance