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Congenital muscular dystrophy due to LMNA mutation
1 OMIM reference -
1 associated gene
25 signs/symptoms
PROTEIN INTERACTIONS: 1
Translocation renal cell carcinoma
1 OMIM reference -
7 associated genes
No signs/symptoms info
Congenital muscular dystrophy due to LMNA mutation
Translocation renal cell carcinoma

LMNA
(UniProt - OMIM)
 ASPSCR1
(UniProt - OMIM)
CLTC
(UniProt - OMIM)
NONO
(UniProt - OMIM)
PRCC
(UniProt - OMIM)
SFPQ
(UniProt - OMIM)
TFE3
(UniProt - OMIM)
TFEB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LMNA
(0.59)
NONO


Citations in the biomedical literature:


Congenital muscular dystrophy due to LMNA mutation
LMNA
Translocation renal cell carcinoma
ASPSCR1 CLTC NONO PRCC SFPQ TFE3
TFEB



Congenital muscular dystrophy due to LMNA mutation
Translocation renal cell carcinoma

Synonym(s):
- L-CMD
- LMNA-related congenital muscular dystrophy
Synonym(s):
- Carcinoma associated with MITF/TFE translocation
- Translocation carcinoma
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare oncologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Congenital muscular dystrophy due to LMNA mutation

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
- 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


Translocation renal cell carcinoma

(no data available)