ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
22 signs/symptoms

Hereditary cerebral cavernous malformation

Spondylometaphyseal dysplasia, Kozlowski type


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

Citations in the biomedical literature:

Hereditary cerebral cavernous malformation		Spondylometaphyseal dysplasia, Kozlowski type
	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): (no synonyms)

	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: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535797

Spondylometaphyseal dysplasia, Kozlowski type
	Very frequent - Abnormal gait - Autosomal dominant inheritance - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Metaphyseal anomaly - Platyspondyly - Short rib cage / thorax - Short stature / dwarfism / nanism Frequent - Delayed bone age - Depressed nasal bridge - Genu valgum - High forehead - Joint / articular deformation - Kyphosis - Pectus carinatum - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Short hand / brachydactyly - Short neck Occasional - Clavicle absent / abnormal - Epiphyseal anomaly - Narrow rib cage / thorax - Odontoid hypoplasia
Hereditary cerebral cavernous malformation
(no data available)