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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
6 OMIM references -
6 associated genes
24 signs/symptoms
Laminopathy type Decaudain-Vigouroux
Lamellar ichthyosis

LMNA ABCA12
ALOX12B
CYP4F22
LIPN
NIPAL4
TGM1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Laminopathy type Decaudain-Vigouroux
LMNA
Lamellar ichthyosis
ABCA12 ALOX12B CYP4F22 LIPN NIPAL4 TGM1



Laminopathy type Decaudain-Vigouroux
Lamellar ichthyosis

Synonym(s):
- Laminopathy with severe metabolic syndrome and myopathy

Synonym(s):
- Classic lamellar ichthyosis
- Congenital lamellar ichthyosis
- LI

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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 -
1 MeSH reference: D017490

Lamellar ichthyosis

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


Laminopathy type Decaudain-Vigouroux

(no data available)