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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
6 OMIM references -
7 associated genes
14 signs/symptoms
Epidermolysis bullosa simplex with mottled pigmentation
Congenital non-bullous ichthyosiform erythroderma

KRT14 ABCA12
KRT5 ALOX12B
ALOXE3
CERS3
NIPAL4
PNPLA1
TGM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT5
(0.65)
ALOX12B



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
Congenital non-bullous ichthyosiform erythroderma
ABCA12 ALOX12B ALOXE3 CERS3 NIPAL4 PNPLA1
TGM1



Epidermolysis bullosa simplex with mottled pigmentation
Congenital non-bullous ichthyosiform erythroderma

Synonym(s):
- EBS-MP

Synonym(s):
- CIE
- Erythrodermic ichthyosis
- Non-bullous congenital ichthyosiform erythroderma

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma


Epidermolysis bullosa simplex with mottled pigmentation
Congenital non-bullous ichthyosiform erythroderma

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
- Premature ageing



Very frequent
- Autosomal recessive inheritance
- Ectropion / entropion / eyelid eversion
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Ichthyosis / ichthyosiform dermatitis
- Pruritus / itching

Frequent
- Alopecia
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Corneal ulceration / perforation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness

Occasional
- Short stature / dwarfism / nanism