Alstrom syndrome

Preferred Label : Alstrom syndrome;

Symbol : ALMS;

CISMeF acronym : ALMS; ALSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ALSS;

Description : Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age (summary by Collin et al., 2002; Marshall et al., 2007).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ALMS1 gene (ALMS1, 606844.0001);

Laboratory abnormalities : Hyperinsulinemia; Hyperuricemia; Hypertriglyceridemia; Low HDL-cholesterol; Normal total cholesterol; Elevated serum transaminases;

Prefixed ID : #203800;

Details

Origin ID

203800;

UMLS CUI

C0268425;

Currated CISMeF NLP mapping
- Alstroem syndrome [MedDRA Preferred Term]
- Alstrom Syndrome [NCIt concept]
- Alstrom syndrome [DO Concept]
- Alstrom syndrome [Disease (Nov.)]
- Alstrom syndrome [MedDRA LLT]
- Alstrom syndrome (disorder) [SNOMED CT concept]
- Alström syndrome [ICD-11 More detail]
- Alström syndrome [ORDO Disease]
- alstrom syndrome [MeSH Descriptor]
- alstrom syndrome [MeSH concept]
- alstrom syndrome [SNOMED Notion]
DO Cross reference
- Alstrom syndrome [DO Concept]
Genes related to phenotype
- Alms1 centrosome and basal body associated protein [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Abnormality of the hand [HPO term]
- Acanthosis nigricans [HPO term]
- Accelerated skeletal maturation [HPO term]
- Alopecia [HPO term]
- Asthma [HPO term]
- Atherosclerosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Chronic active hepatitis [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Congestive heart failure [HPO term]
- Constriction of peripheral visual field [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Diabetes insipidus [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated hepatic transaminase [HPO term]
- Gingivitis [HPO term]
- Global developmental delay [HPO term]
- Gynecomastia [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hyperinsulinemia [HPO term]
- Hyperostosis frontalis interna [HPO term]
- Hypertension [HPO term]
- Hypertriglyceridemia [HPO term]
- Hyperuricemia [HPO term]
- Hypothyroidism [HPO term]
- Insulin-resistant diabetes mellitus [HPO term]
- Irregular menstruation [HPO term]
- Kyphosis [HPO term]
- Multinodular goiter [HPO term]
- Nephritis [HPO term]
- Nystagmus [HPO term]
- Otitis media [HPO term]
- Pes planus [HPO term]
- Photophobia [HPO term]
- Pigmentary retinopathy [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Renal insufficiency [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Subcapsular cataract [HPO term]
- Truncal obesity [HPO term]
- Tubulointerstitial nephritis [HPO term]
- Visual loss [HPO term]
Not associated HPO term(s)
- Polydactyly [HPO term]
ORDO concept(s)
- Alström syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alstroem syndrome [MedDRA Preferred Term]
- Alstrom Syndrome [NCIt concept]
- Alstrom syndrome [MedDRA LLT]
- Alstrom syndrome [DO Concept]
- Alstrom syndrome [Disease (Nov.)]
- Alstrom syndrome (disorder) [SNOMED CT concept]
- Alström syndrome [ORDO Disease]
- Alström syndrome [ICD-11 More detail]
- alstrom syndrome [SNOMED Notion]
- alstrom syndrome [MeSH Descriptor]
- alstrom syndrome [MeSH concept]

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