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Congenital non-bullous ichthyosiform erythroderma
6 OMIM references -
7 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
Familial partial lipodystrophy, Köbberling type
1 OMIM reference -
1 associated gene
15 signs/symptoms
Congenital non-bullous ichthyosiform erythroderma
Familial partial lipodystrophy, Köbberling type

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ALOX12B
(0.67)
LMNA


Citations in the biomedical literature:


Congenital non-bullous ichthyosiform erythroderma
ABCA12 ALOX12B ALOXE3 CERS3 NIPAL4 PNPLA1
TGM1
Familial partial lipodystrophy, Köbberling type
LMNA



Congenital non-bullous ichthyosiform erythroderma
Familial partial lipodystrophy, Köbberling type

Synonym(s):
- CIE
- Erythrodermic ichthyosis
- Non-bullous congenital ichthyosiform erythroderma
Synonym(s):
- FPLD1
- Familial partial lipodystrophy type 1
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Congenital non-bullous ichthyosiform erythroderma
Familial partial lipodystrophy, Köbberling type

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
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma

Occasional
- Short stature / dwarfism / nanism


Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Diabetes mellitus
- Hyperinsulinism / hyperinsulinemia
- Insulin resistance
- Insulin-dependent / type 1 diabetes
- Lipoatrophy

Frequent
- Abnormal / polycystic ovaries
- Acanthosis nigricans
- Hepatomegaly / liver enlargement (excluding storage disease)
- Liver / hepatic steatosis
- Xanthomas / lipomas

Occasional
- Angor pectoris / myocardial infarction
- Pancreatitis