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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
6 OMIM references -
6 associated genes
24 signs/symptoms
Epidermolysis bullosa simplex with mottled pigmentation
Lamellar ichthyosis

KRT14 ABCA12
KRT5 ALOX12B
CYP4F22
LIPN
NIPAL4
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
Lamellar ichthyosis
ABCA12 ALOX12B CYP4F22 LIPN NIPAL4 TGM1



Epidermolysis bullosa simplex with mottled pigmentation
Lamellar ichthyosis

Synonym(s):
- EBS-MP

Synonym(s):
- Classic lamellar ichthyosis
- Congenital lamellar ichthyosis
- LI

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare eye disease
- 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 -
1 MeSH reference: D017490


COMMON
SIGNS
- Nails anomalies


Epidermolysis bullosa simplex with mottled pigmentation
Lamellar ichthyosis

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
- Palmoplantar hyperkeratosis / keratoderma
- Premature ageing



Very frequent
- Absent / decreased / thin eyebrows
- Autosomal recessive inheritance
- Decreased body hair / axillar / pubic hairlessness
- Dry / squaly skin / exfoliation
- Ectropion / entropion / eyelid eversion
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Ichthyosis / ichthyosiform dermatitis
- Pruritus / itching
- Tight skin / lack of elasticity

Frequent
- Everted lower lip
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Chronic / relapsing otitis
- Dehydration / hydroelectrolytic loss
- Gangrena / necrosis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Musculo-tendinous retractions
- Renal failure
- Repeat respiratory infections
- Sepsis severe / septicemia
- Short stature / dwarfism / nanism