ODCs

Cytoscape Web

Click node...

Familial porencephaly

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

PROTEIN INTERACTIONS: 1

Juvenile hyaline fibromatosis

1 OMIM reference -
1 associated gene
16 signs/symptoms

Familial porencephaly

Juvenile hyaline fibromatosis

COL4A1	(UniProt - OMIM)		ANTXR2	(UniProt - OMIM)
COL4A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL4A2	(0.52)	ANTXR2

Citations in the biomedical literature:

Familial porencephaly		Juvenile hyaline fibromatosis
	Synonym(s): (no synonyms)		Synonym(s): - Murray-Puretic-Drescher syndrome - Puretic syndrome

	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 - Rare odontologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	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: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - 1 MeSH reference: C536850		External references: 1 OMIM reference - 1 MeSH reference: D057770

Juvenile hyaline fibromatosis
	Very frequent - Autosomal recessive inheritance - Diaphyseal anomaly - Face / facial anomalies - Follicular / erythematous / edematous papules / milium - Hair and scalp anomalies - Skull / cranial anomalies - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Death in infancy - Skin hypoplasia / aplasia / atrophy Occasional - Anus / rectum anomalies - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Osteolysis / osteoclasia / bone destruction / erosions - Restricted joint mobility / joint stiffness / ankylosis - Thickened / hypertrophic / fibromatous gingivae
Familial porencephaly
(no data available)