ODCs

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Dominant hypophosphatemia with nephrolithiasis or osteoporosis

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

PROTEIN INTERACTIONS: 1

Megalencephaly-capillary malformation-polymicrogyria syndrome

1 OMIM reference -
1 associated gene
36 signs/symptoms

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Megalencephaly-capillary malformation-polymicrogyria syndrome

SLC34A1	(UniProt - OMIM)		PIK3CA	(UniProt - OMIM)
SLC9A3R1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SLC9A3R1	(0.75)	PIK3CA

Citations in the biomedical literature:

Dominant hypophosphatemia with nephrolithiasis or osteoporosis		Megalencephaly-capillary malformation-polymicrogyria syndrome
	Synonym(s): (no synonyms)		Synonym(s): - MCAP - MCM - MCMTC - Macrocephaly - cutis marmorata telangiectatica congenita - Macrocephaly-capillary malformation syndrome - Megalencephaly - cutis marmorata telangiectatica congenita - Megalencephaly-capillary malformation syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood 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: sporadic

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

Megalencephaly-capillary malformation-polymicrogyria syndrome
	Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Autosomal dominant inheritance - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Macrocephaly / macrocrania / megalocephaly / megacephaly - Macrostomia / big mouth - Polydactyly of toes - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Telangiectasiae of the skin - Upper limb polydactyly / hexadactyly - Visceral angiomatosis (excluding skin) Frequent - Broad cheeks / cherub-like / cherubin face - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cutis marmorata / marbled skin / livedo - Dilated cerebral ventricles without hydrocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - High forehead - Hydrocephaly - Hyperextensible joints / articular hyperlaxity - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Macules - Structural anomalies of the nervous system Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anomalies of mouth, lip and philtrum - Arnold-Chiari anomaly - Cardiac rhythm disorder / arrhythmia - Congenital cardiac anomaly / malformation / cardiopathy - Deepset eyes / enophthalmos - Depressed nasal bridge - Neoplasms / tumors - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Transient cerebral ischemia / stroke
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
(no data available)