ODCs

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Lamellar ichthyosis

6 OMIM references -
6 associated genes
24 signs/symptoms

PROTEIN INTERACTIONS: 1

Familial partial lipodystrophy, KÃ¶bberling type

1 OMIM reference -
1 associated gene
15 signs/symptoms

Lamellar ichthyosis

Familial partial lipodystrophy, KÃ¶bberling type

ABCA12	(UniProt - OMIM)	LMNA	(UniProt - OMIM)
ALOX12B	(UniProt - OMIM)
CYP4F22	(UniProt - OMIM)
LIPN	(UniProt - OMIM)
NIPAL4	(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:

Lamellar ichthyosis		Familial partial lipodystrophy, KÃ¶bberling type
	Synonym(s): - Classic lamellar ichthyosis - Congenital lamellar ichthyosis - LI		Synonym(s): - FPLD1 - Familial partial lipodystrophy type 1

	Classification (Orphanet): - Rare eye disease - 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 - 1 MeSH reference: D017490		External references: 1 OMIM reference - No MeSH references

Lamellar ichthyosis		Familial partial lipodystrophy, KÃ¶bberling type
	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 - Nails anomalies - 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		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