ODCs

Cytoscape Web

Click node...

Campomelic dysplasia

3 OMIM references -
1 associated gene
38 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

46,XX gonadal dysgenesis

3 OMIM references -
4 associated genes
16 signs/symptoms

Campomelic dysplasia

46,XX gonadal dysgenesis

SOX9	(UniProt - OMIM)		BMP15	(UniProt - OMIM)
			FSHR	(UniProt - OMIM)
			NR5A1	(UniProt - OMIM)
			PSMC3IP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX9	(0.86)	NR5A1

Citations in the biomedical literature:

Campomelic dysplasia		46,XX gonadal dysgenesis
	Synonym(s): - Campomelic dwarfism		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 endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare urogenital 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: <1 / 1 000 000 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: 3 OMIM references - 1 MeSH reference: D055036		External references: 3 OMIM references - 1 MeSH reference: D023961


COMMON SIGNS	- Autosomal dominant inheritance - Hearing loss / hypoacusia / deafness - Short stature / dwarfism / nanism

Campomelic dysplasia		46,XX gonadal dysgenesis
	Very frequent - Bone / osseous hypoplasia - Bowed diaphysis / diaphyses / long bones - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Flat face - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Lack / delayed ossification of spine / vertebrae - Laryngomalacia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Mutiple fractures / bone fragility - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rib number anomalies - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Short neck - Stillbirth / neonatal death - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Tracheomalacia / tracheobronchomalacia Frequent - Ambiguous genitalia - Dermoid sinus / dimple / pit (excluding sacral) - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Hypertelorism - Low set ears / posteriorly rotated ears - Male pseudohermaphrodism / lack of virilisation - Proptosis / exophthalmos - Talipes-varus / metatarsal varus Occasional - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Congenital cardiac anomaly / malformation / cardiopathy - Depressed nasal bridge - Dilated cerebral ventricles without hydrocephaly - Kyphosis - Megaureter / hydronephrosis / pyeloureteral junction syndrome		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 - Long hand / arachnodactyly - Lung fibrosis - Metabolic anomalies - Microcephaly - Precocious menopause / secondary amenorrhea - X-linked recessive inheritance