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Congenital muscular dystrophy due to LMNA mutation
1 OMIM reference -
1 associated gene
25 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Congenital non-bullous ichthyosiform erythroderma
6 OMIM references -
7 associated genes
14 signs/symptoms
Congenital muscular dystrophy due to LMNA mutation
Congenital non-bullous ichthyosiform erythroderma

LMNA
(UniProt - OMIM)
 ABCA12
(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)
LMNA
(0.67)
ALOX12B


Citations in the biomedical literature:


Congenital muscular dystrophy due to LMNA mutation
LMNA
Congenital non-bullous ichthyosiform erythroderma
ABCA12 ALOX12B ALOXE3 CERS3 NIPAL4 PNPLA1
TGM1



Congenital muscular dystrophy due to LMNA mutation
Congenital non-bullous ichthyosiform erythroderma

Synonym(s):
- L-CMD
- LMNA-related congenital muscular dystrophy
Synonym(s):
- CIE
- Erythrodermic ichthyosis
- Non-bullous congenital ichthyosiform erythroderma
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
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:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
No MeSH references
COMMON
SIGNS 		- Failure to thrive / difficulties for feeding in infancy / growth delay

Congenital muscular dystrophy due to LMNA mutation
Congenital non-bullous ichthyosiform erythroderma

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
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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


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
- Hearing loss / hypoacusia / deafness
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma

Occasional
- Short stature / dwarfism / nanism