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Details
Link-It Detail - Disease - Alstrom Syndrome
Debug Stats
  • ### Total Build Time: 59 ms 29.485 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 364 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 652 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 10.725 KB
  • CONCEPT_RELATIONSHIPS gt=35 ms Completed: 35 ms rowSize= 12.803 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 2.176 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Alstrom Syndrome C0268425
ALMS
Definition (1)
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.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Abnormalities, Multiple C0000772
img Hereditary Sensory and Motor Neuropathy C0027888
img Retinitis Pigmentosa C0035334
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Hereditary Sensory and Motor Neuropathy C0027888
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hereditary Sensory and Motor Neuropathy C0027888
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Hereditary Sensory and Motor Neuropathy C0027888
img Nervous System Diseases C0027765img Nervous System Malformations C04975524img Hereditary Sensory and Motor Neuropathy C0027888
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278686img Hereditary Sensory and Motor Neuropathy C0027888
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Retinitis Pigmentosa C0035334
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153984img Retinitis Pigmentosa C0035334
Relationships (53)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 51
diso_​to_​phen : 1


Relationships:
none : 2
alias_​of : 1
manifestation_​of : 48
used_​for : 2
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN16img genetic aspects C0017399
DISO_to_CHEM8img Proteins C0033684
DISO_to_DISOalias_ofimg ALMS C0268425
DISO_to_DISOmanifestation_ofimg Acanthosis Nigricans C0000889
DISO_to_DISOmanifestation_ofimg Advanced bone age C0545053
DISO_to_DISOmanifestation_ofimg Alopecia C0002170
DISO_to_DISOmanifestation_ofimg Asthma C0004096
DISO_to_DISOmanifestation_ofimg Atherosclerosis C0004153
DISO_to_DISOmanifestation_ofimg Blind Vision C0456909
DISO_to_DISOmanifestation_ofimg CATARACT SUBCAPSULAR C0235259
DISO_to_DISOmanifestation_ofimg Caused by mutation in the ALMS1 gene (ALMS1, 606844.0001) C2673937
DISO_to_DISOmanifestation_ofimg Chronic active hepatitis C0520463
DISO_to_DISOmanifestation_ofimg Chronic nephritis ICD10CM:N03 C3277889
DISO_to_DISOmanifestation_ofimg Congestive heart failure C0018802
DISO_to_DISOmanifestation_ofimg Decreased HDL C0151691
DISO_to_DISOmanifestation_ofimg Deformities of the calyceal system C2673935
DISO_to_DISOmanifestation_ofimg Diabetes Insipidus C0011848
DISO_to_DISOmanifestation_ofimg Dilated cardiomyopathy (infancy) C1842880
DISO_to_DISOmanifestation_ofimg Discolored enamel C2673936
DISO_to_DISOmanifestation_ofimg Elevated serum transaminases C1863696
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg Flatfoot C0016202
DISO_to_DISOmanifestation_ofimg GINGIVITIS C0017574
DISO_to_DISOmanifestation_ofimg Gynecomastia C0018418
DISO_to_DISOmanifestation_ofimg HYPERINSULINEMIA C0020459
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanALMS17840Alstrom syndrome 1
img GENERIF, Score=1000, Pubmed Id: 11941370, UMLKSK CUI: C0268425
img GENERIF, Score=1000, Pubmed Id: 11941369, UMLKSK CUI: C0268425
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268425Alstrom Syndrome0self