ODCs

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Lamellar ichthyosis

6 OMIM references -
6 associated genes
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Mandibuloacral dysplasia with type A lipodystrophy

1 OMIM reference -
1 associated gene
28 signs/symptoms

Lamellar ichthyosis

Mandibuloacral dysplasia with type A lipodystrophy

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		Mandibuloacral dysplasia with type A lipodystrophy
	Synonym(s): - Classic lamellar ichthyosis - Congenital lamellar ichthyosis - LI		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine 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: 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 6 OMIM references - 1 MeSH reference: D017490		External references: 1 OMIM reference - 1 MeSH reference: C535705


COMMON SIGNS	- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Autosomal recessive inheritance - Short stature / dwarfism / nanism - Tight skin / lack of elasticity

Lamellar ichthyosis		Mandibuloacral dysplasia with type A lipodystrophy
	Very frequent - Absent / decreased / thin eyebrows - 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 Frequent - Everted lower lip - Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits Occasional - 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		Very frequent - Alopecia - Clavicle absent / abnormal - Large fontanelle / delayed fontanelle closure - Osteolysis / osteoclasia / bone destruction / erosions - Premature ageing - Restricted joint mobility / joint stiffness / ankylosis - Skin hypoplasia / aplasia / atrophy - Terminal / third phalangeal bone of fingers hypoplasia - Wormian bones Frequent - Eyebrows anomalies - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Proptosis / exophthalmos Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Anomalies of cartilages, joints and periarticular tissue - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Articular / joint pain / arthralgia - Breast tissue / mammary gland absence / aplasia - Cataract / lens opacification - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Hypotonia - Muscle anomalies