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Congenital non-bullous ichthyosiform erythroderma
6 OMIM references -
7 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Familial partial lipodystrophy, Dunnigan type
1 OMIM reference -
1 associated gene
36 signs/symptoms
Congenital non-bullous ichthyosiform erythroderma
Familial partial lipodystrophy, Dunnigan 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, Dunnigan type
LMNA



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

Synonym(s):
- CIE
- Erythrodermic ichthyosis
- Non-bullous congenital ichthyosiform erythroderma
Synonym(s):
- Dunnigan syndrome
- FPLD2
- Familial partial lipodystrophy type 2
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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: unknown
Average age onset: childhood
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
COMMON
SIGNS 		- Nails anomalies

Congenital non-bullous ichthyosiform erythroderma
Familial partial lipodystrophy, Dunnigan 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
- Palmoplantar hyperkeratosis / keratoderma

Occasional
- Short stature / dwarfism / nanism


Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- Diabetes mellitus
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Lipoatrophy
- Muscle hypertrophy
- Round face
- Skin hypoplasia / aplasia / atrophy
- Xanthomas / lipomas

Frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Precocious menopause / secondary amenorrhea
- Premature eruption of teeth / natal teeth
- Thin skin

Occasional
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Abnormal / polycystic ovaries
- Acanthosis nigricans
- Angor pectoris / myocardial infarction
- Anomalies of complement
- Cardiomyopathy / hypertrophic / dilated
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Cranial nerves palsy
- Heart / cardiac failure
- Hirsutism / hypertrichosis / Increased body hair
- Liver / hepatic steatosis
- Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Myalgia / muscular pain
- Myopathy
- Pancreatitis
- Renal glomerular defect / glomerulopathy
- Splenomegaly
- Storage liver disease