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Familial porencephaly

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

PROTEIN INTERACTIONS: 1

Infantile systemic hyalinosis

1 OMIM reference -
1 associated gene
29 signs/symptoms

Familial porencephaly

Infantile systemic hyalinosis

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		Infantile systemic hyalinosis

	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): (no data available)

	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: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - 1 MeSH reference: C536850		External references: 1 OMIM reference - No MeSH references

Infantile systemic hyalinosis
	Very frequent - Autosomal recessive inheritance - Camptodactyly of fingers - Coarse face - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intestinal / colonic anomaly - Irregular / in bands / reticular skin hyperpigmentation - Lymphedema - Malabsorption / chronic diarrhea / steatorrhea - Muscle anomalies - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Subcutaneous nodules / lipomas / tumefaction / swelling - Thick skin / pachydermia / orange skin - Thickened / hypertrophic / fibromatous gingivae - Thymic aplasia / hypoplasia - Urticaria Frequent - Abnormal / polycystic ovaries - Adrenal glands anomalies - Chronic skin infection / ulcerations / ulcers / cancrum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Mutiple fractures / bone fragility - Short neck Occasional - Short hand / brachydactyly - Telangiectasiae of the skin - Tooth shape anomaly
Familial porencephaly
(no data available)