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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: 5

Wolfram syndrome

4 OMIM references -
2 associated genes
36 signs/symptoms

Congenital muscular dystrophy due to LMNA mutation

Wolfram syndrome

LMNA	(UniProt - OMIM)		CISD2	(UniProt - OMIM)
			WFS1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.49)	CISD2

Citations in the biomedical literature:

Congenital muscular dystrophy due to LMNA mutation		Wolfram syndrome
	Synonym(s): - L-CMD - LMNA-related congenital muscular dystrophy		Synonym(s): - DIDMOAD syndrome - Diabetes insipidus - diabetes mellitus - optic atrophy - deafness

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the eye and adnexa -

	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: childhood Average age of death: adult Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - 1 MeSH reference: D014929


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Myopathy - Psychic / psychomotor regression / dementia / intellectual decline - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis

Congenital muscular dystrophy due to LMNA mutation		Wolfram syndrome
	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 - 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 - Diabetes insipidus - Diabetes mellitus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Sensorineural deafness / hearing loss Frequent - Ataxia / incoordination / trouble of the equilibrium - Bladder and ureter anomalies - Elocution disorders / dysarthria / dysphonia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Nystagmus - Psychic / behavioural troubles - Recurrent urinary infections - Renal disease / nephropathy - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Anaemia - Autosomal dominant inheritance - Cardiomyopathy / hypertrophic / dilated - Constipation - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Delirium / hallucination - Dysautonomia / autonomous nervous sytem anomalies - Early death / lethality - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Glaucoma - Late puberty / hypogonadism / hypogenitalism - Malabsorption / chronic diarrhea / steatorrhea - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Peripheral neuropathy - Psychosis / schizophrenia / maniac disorder - Sleep and vigilance disorders