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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
15 signs/symptoms
Epidermolysis bullosa simplex with mottled pigmentation
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

KRT14 AKT3
KRT5 PIK3R2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT14
KRT5
(0.63)
(0.63)
PIK3R2
PIK3R2



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
AKT3 PIK3R2



Epidermolysis bullosa simplex with mottled pigmentation
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

Synonym(s):
- EBS-MP

Synonym(s):
- MPPH syndrome

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
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:
1 OMIM reference -
1 MeSH reference: C535959
External references:
1 OMIM reference -
No MeSH references

Epidermolysis bullosa simplex with mottled pigmentation
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium
- Irregular / patchy skin hypopigmentation
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal fingernails
- Bruisability
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma
- Premature ageing



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