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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
15 signs/symptoms
Typical urticaria pigmentosa
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

KIT AKT3
PIK3R2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KIT
(0.89)
PIK3R2



Citations in the biomedical literature:


Typical urticaria pigmentosa
KIT
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
AKT3 PIK3R2



Typical urticaria pigmentosa
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

Synonym(s):
(no synonyms)

Synonym(s):
- MPPH syndrome

Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
(no data available)
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:
No 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



Typical urticaria pigmentosa

(no data available)