ODCs

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Lamellar ichthyosis

6 OMIM references -
6 associated genes
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Congenital muscular dystrophy due to LMNA mutation

1 OMIM reference -
1 associated gene
25 signs/symptoms

Lamellar ichthyosis

Congenital muscular dystrophy due to LMNA mutation

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		Congenital muscular dystrophy due to LMNA mutation
	Synonym(s): - Classic lamellar ichthyosis - Congenital lamellar ichthyosis - LI		Synonym(s): - L-CMD - LMNA-related congenital muscular dystrophy

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: neonatal/infancy Average age of death: - Type of inheritance: sporadic

	External references: 6 OMIM references - 1 MeSH reference: D017490		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Lamellar ichthyosis		Congenital muscular dystrophy due to LMNA mutation
	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 - Musculo-tendinous retractions - Renal failure - Repeat respiratory infections - Sepsis severe / septicemia - Short stature / dwarfism / nanism		Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Anomalies of the neck - Muscle weakness / flaccidity Frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypotonia - Lordosis - Motor deficit / trouble - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Myopathy - Psychic / psychomotor regression / dementia / intellectual decline - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Rigid spine Occasional - Ankle anomalies - Cardiac rhythm disorder / arrhythmia - Death in infancy - Fetal immobility / abnormal fetal movements - Heart / cardiac failure - Hyperextensible joints / articular hyperlaxity - Narrow rib cage / thorax - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy