ODCs

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3 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
26 signs/symptoms

Hereditary cerebral cavernous malformation

Metatropic dysplasia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRIT1	(0.49)	TRPV4

Citations in the biomedical literature:

Hereditary cerebral cavernous malformation		Metatropic dysplasia
	Synonym(s): - Familial brain cavernous angioma - Familial brain cavernous hemangioma - Familial cerebral cavernoma - Familial cerebral cavernous malformation - Hereditary brain cavernous angioma - Hereditary brain cavernous hemangioma - Hereditary cerebral cavernoma		Synonym(s): - Metatropic dwarfism

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: 1-5 / 10 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537356

Metatropic dysplasia
	Very frequent - Abnormal vertebral size / shape - Abnormal / absent ossification - Anomalies of the ribs - Autosomal recessive inheritance - Cortical anomaly / thick bone cortical layer - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - High forehead - Intervertebral disk anomaly - Kyphosis - Long rib cage / thorax - Metaphyseal anomaly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Rough trabeculation of bone - Scoliosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Occasional - Camptodactyly of fingers - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Hydrocephaly - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears
Hereditary cerebral cavernous malformation
(no data available)