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Familial primary hypomagnesemia with normocalcuria and normocalcemia
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
1 OMIM reference -
2 associated genes
15 signs/symptoms
Familial primary hypomagnesemia with normocalcuria and normocalcemia
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

CNNM2
(UniProt - OMIM)
 AKT3
(UniProt - OMIM)
EGF
(UniProt - OMIM)
 PIK3R2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
EGF
(0.78)
PIK3R2


Citations in the biomedical literature:


Familial primary hypomagnesemia with normocalcuria and normocalcemia
CNNM2 EGF
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
AKT3 PIK3R2



Familial primary hypomagnesemia with normocalcuria and normocalcemia
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

Synonym(s):
(no synonyms)

Synonym(s):
- MPPH syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: sporadic
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Postaxial polydactyly (hand)

Frequent
- Cardiac septal defect
- Depressed nasal bridge
- Ectopic / horseshoe / fused kidneys
- High forehead
- Hypertelorism
- Long / large / bulbous nose
- Microstomia / little mouth
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Seizures / epilepsy / absences / spasms / status epilepticus
- Telecanthus / canthal dystopy
- Ventricular septal defect / interventricular communication



Familial primary hypomagnesemia with normocalcuria and normocalcemia

(no data available)