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Term:Alstrom syndrome
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Accession:DOID:0050473 term browser browse the term
Definition:Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
Synonyms:exact_synonym: ALMS;   ALSS;   Alstrom Hallgren Syndrome;   Alstrom's Syndrome;   Alstroms syndrome;   Alström syndrome
 primary_id: MESH:D056769
 alt_id: OMIM:203800;   RDO:0007757
 xref: NCI:C84549
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Alstrom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alms1 ALMS1, centrosome and basal body associated protein JBrowse link 4 117,371,544 117,472,310 RGD:1601169

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Alstrom syndrome 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              retinal disease 716
                retinal degeneration 408
                  fundus dystrophy 265
                    retinitis pigmentosa 242
                      Alstrom syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.