ODCs

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2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
20 signs/symptoms

Brachydactyly type E

Metaphyseal chondrodysplasia, Jansen type

HOXD13	(UniProt - OMIM)		PTH1R	(UniProt - OMIM)
PTHLH	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTHLH	(0.85)	PTH1R

Citations in the biomedical literature:

Brachydactyly type E		Metaphyseal chondrodysplasia, Jansen type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537564


COMMON SIGNS	- Frontal bossing / prominent forehead - Short stature / dwarfism / nanism

Brachydactyly type E		Metaphyseal chondrodysplasia, Jansen type
	Very frequent - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign Frequent - Hyperextensible joints / articular hyperlaxity - Terminal / third phalangeal bone of fingers hypoplasia Occasional - Macrocephaly / macrocrania / megalocephaly / megacephaly - Upper limb asymmetry / hemiatrophy / hemihypertrophy		Very frequent - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Hypertelorism - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent supraorbital ridge - Proptosis / exophthalmos - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia Frequent - Clinodactyly of fifth finger - Enlarged diaphysis / diaphyses - Hypercalcemia - Hypoparathyroidy - Hypoplastic mandibula / partial absence of the mandibula - Narrow rib cage / thorax - Osteosclerosis / osteopetrosis / bone condensation - Phosphocalcic metabolism anomalies - Short hand / brachydactyly Occasional - Sensorineural deafness / hearing loss