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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
6 OMIM references -
5 associated genes
9 signs/symptoms
Epidermolysis bullosa simplex with mottled pigmentation
Split hand-split foot malformation

KRT14 BTRC
KRT5 FBXW4
SHFM1
TP63
WNT10B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT5
(0.72)
TP63



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
Split hand-split foot malformation
BTRC FBXW4 SHFM1 TP63 WNT10B



Epidermolysis bullosa simplex with mottled pigmentation
Split hand-split foot malformation

Synonym(s):
- EBS-MP

Synonym(s):
- Ectrodactyly
- Lobster-claw deformity
- SHFM
- Split hand foot malformation

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535959
External references:
6 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Epidermolysis bullosa simplex with mottled pigmentation
Split hand-split foot malformation

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- 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
- Oligodactyly / ectrodactyly of fingers

Frequent
- Syndactyly of fingers / interdigital palm

Occasional
- Aniridia / iris hypoplasia
- Autosomal recessive inheritance
- Hand agenesis / absence
- Sensorineural deafness / hearing loss
- Trident hand / split hand / abnormal median ray
- X-linked recessive inheritance