Cytoscape Web
Click node...

Congenital myopathy, Paradas type
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Alström syndrome
1 OMIM reference -
1 associated gene
55 signs/symptoms
Congenital myopathy, Paradas type
Alström syndrome

DYSF
(UniProt - OMIM)
 ALMS1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DYSF
(0.65)
ALMS1


Citations in the biomedical literature:


Congenital myopathy, Paradas type
DYSF
Alström syndrome
ALMS1



Congenital myopathy, Paradas type
Alström syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D056769
Alström syndrome

Very frequent
- Autosomal recessive inheritance
- Retinal / chorioretinal dysplasia / dystrophy
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Truncal obesity

Frequent
- Acanthosis nigricans
- Asthma / bronchospasm
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Chronic / relapsing otitis
- Early death in adulthood
- Hyperinsulinism / hyperinsulinemia
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Insulin-independent / type 2 diabetes
- Nystagmus
- Photophobia
- Pulmonary hypertension
- Repeat respiratory infections
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Visual loss / blindness / amblyopia

Occasional
- Abnormal fat distribution / lipodystrophy
- Abnormal / polycystic ovaries
- Alopecia
- Autism / autistic disoders
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Chronic hepatic failure
- Cirrhosis
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Deepset eyes / enophthalmos
- Heart / cardiac failure
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hirsutism / hypertrichosis / Increased body hair
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypothyroidy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Liver / hepatic steatosis
- Lung fibrosis
- Obsessive-compulsive disorder
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Portal hypertension
- Precocious puberty
- Psychosis / schizophrenia / maniac disorder
- Renal failure
- Renal glomerular defect / glomerulopathy
- Renal tubular defect / tubulopathy
- Renal / kidney calcifications / nephrocalcinosis
- Renovascular hypertension
- Round face
- Seizures / epilepsy / absences / spasms / status epilepticus
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Splenomegaly
- Sterility / hypofertility
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis
- Vesicorenal / vesicoureteral reflux


Congenital myopathy, Paradas type

(no data available)