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Acral self-healing collodion baby
1 associated gene
1 sign/symptom
COMMON GENES: 1
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
Congenital non-bullous ichthyosiform erythroderma
6 OMIM references -
7 associated genes
14 signs/symptoms
Acral self-healing collodion baby
Congenital non-bullous ichthyosiform erythroderma

TGM1
(UniProt - OMIM)
 ABCA12
(UniProt - OMIM)
ALOX12B
(UniProt - OMIM)
ALOXE3
(UniProt - OMIM)
CERS3
(UniProt - OMIM)
NIPAL4
(UniProt - OMIM)
PNPLA1
(UniProt - OMIM)
TGM1
(UniProt - OMIM)

COMMON
GENES 		TGM1
INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TGM1
TGM1
(0.49)
(0.49)
ALOX12B
ALOXE3


Citations in the biomedical literature:


Acral self-healing collodion baby
TGM1
Congenital non-bullous ichthyosiform erythroderma
ABCA12 ALOX12B ALOXE3 CERS3 NIPAL4 PNPLA1



Acral self-healing collodion baby
Congenital non-bullous ichthyosiform erythroderma

Synonym(s):
- Acral SHCB
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:
(no data available)
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:
No OMIM references
No MeSH references
External references:
6 OMIM references -
No MeSH references
COMMON
SIGNS 		- Ichthyosis / ichthyosiform dermatitis

Acral self-healing collodion baby
Congenital non-bullous ichthyosiform erythroderma

(no more signs)

Very frequent
- Autosomal recessive inheritance
- Ectropion / entropion / eyelid eversion
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- 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
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma

Occasional
- Short stature / dwarfism / nanism