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Campomelic dysplasia

3 OMIM references -
1 associated gene
38 signs/symptoms

PROTEIN INTERACTIONS: 1

Cerulean cataract

6 OMIM references -
4 associated genes
No signs/symptoms info

Campomelic dysplasia

Cerulean cataract

SOX9	(UniProt - OMIM)		CRYBB2	(UniProt - OMIM)
			CRYGD	(UniProt - OMIM)
			MAF	(UniProt - OMIM)
			MIP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX9	(0.79)	MAF

Citations in the biomedical literature:

Campomelic dysplasia		Cerulean cataract
	Synonym(s): - Campomelic dwarfism		Synonym(s): - Blue-dot cataract

	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 eye disease - Rare genetic 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: (no data available)

	External references: 3 OMIM references - 1 MeSH reference: D055036		External references: 6 OMIM references - 1 MeSH reference: C537955

Campomelic dysplasia
	Very frequent - Autosomal dominant inheritance - 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 - Short stature / dwarfism / nanism - 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 - Hearing loss / hypoacusia / deafness - Kyphosis - Megaureter / hydronephrosis / pyeloureteral junction syndrome
Cerulean cataract
(no data available)