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Familial porencephaly

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

PROTEIN INTERACTIONS: 2

Metaphyseal anadysplasia

2 OMIM references -
2 associated genes
10 signs/symptoms

Familial porencephaly

Metaphyseal anadysplasia

COL4A1	(UniProt - OMIM)		MMP13	(UniProt - OMIM)
COL4A2	(UniProt - OMIM)		MMP9	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL4A1 COL4A2	(0.52) (0.52)	MMP9 MMP9

Citations in the biomedical literature:

Familial porencephaly		Metaphyseal anadysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Maroteaux-Verloes-Stanescu syndrome - Regressive metaphyseal dysplasia

	Classification (Orphanet): - 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 / 1 000 000 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: any age Type of inheritance: autosomal dominant

	External references: 2 OMIM references - 1 MeSH reference: C536850		External references: 2 OMIM references - 1 MeSH reference: C537351

Metaphyseal anadysplasia
	Very frequent - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Lower limb segmental anomalies - Metaphyseal anomaly - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Rhizomelic micromelia - Short stature / dwarfism / nanism - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - X-linked recessive inheritance
Familial porencephaly
(no data available)