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Congenital muscular dystrophy due to LMNA mutation
1 OMIM reference -
1 associated gene
25 signs/symptoms
PROTEIN INTERACTIONS: 3
Familial pancreatic carcinoma
5 OMIM references -
8 associated genes
No signs/symptoms info
Congenital muscular dystrophy due to LMNA mutation
Familial pancreatic carcinoma

LMNA
(UniProt - OMIM)
 BRCA1
(UniProt - OMIM)
BRCA2
(UniProt - OMIM)
CDKN2A
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
MANF
(UniProt - OMIM)
PALB2
(UniProt - OMIM)
SMAD4
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LMNA
LMNA
LMNA
(0.06)
(0.06)
(0.06)
BRCA1
BRCA2
PALB2


Citations in the biomedical literature:


Congenital muscular dystrophy due to LMNA mutation
LMNA
Familial pancreatic carcinoma
BRCA1 BRCA2 CDKN2A KRAS MANF PALB2
SMAD4 TP53



Congenital muscular dystrophy due to LMNA mutation
Familial pancreatic carcinoma

Synonym(s):
- L-CMD
- LMNA-related congenital muscular dystrophy
Synonym(s):
- Familial pancreatic cancer
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic 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:
5 OMIM references -
1 MeSH reference: C535837
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


Familial pancreatic carcinoma

(no data available)