ALMS
MCID: ALS001
MIFTS: 54

Alstrom Syndrome (ALMS) malady

Eye, Ear, Endocrine, Fetal categories

Summaries for Alstrom Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Alström syndrome is a rare condition that affects many body systems. the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, diabetes mellitus, heart disease and slowly progressive kidney dysfunction which can lead to kidney failure. many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. alström syndrome is caused by mutations in the alms1 gene. it is inherited in an autosomal recessive pattern. while there is no specific therapy for this condition, early diagnosis and intervention can moderate the progression and improve the longevity and quality of life for patients with the disease. last updated: 12/8/2010

MalaCards: Alstrom Syndrome, also known as alstrom's syndrome, is related to bardet-biedl syndrome and short stature, and has symptoms including autosomal recessive inheritance, cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Alstrom Syndrome is ALMS1 (Alstrom syndrome 1), and among its related pathways is Bicarbonate transporters. The compounds glipizide and exenatide have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and heart, and related mouse phenotypes are endocrine/exocrine gland and vision/eye.

Disease Ontology:8 An autosomal recessive disease that is characterized by multiorgan dysfunction. the key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has material basis in mutations in the alms1 gene.

Genetics Home Reference:21 Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.

Wikipedia:64 Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the... more...

Description from OMIM:47 203800

GeneReviews summary for alstrom

Aliases & Classifications for Alstrom Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 45Novoseek, 61UMLS, 49Orphanet, 20GeneTests, 22GTR, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Ear, Endocrine


Characteristics (Orphanet epidemiological data):

49
alström syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

alstrom syndrome 8 9 19 43 47 10 45 61
alstrom's syndrome 43 20 22
alström syndrome 19 43 49
alss 43
alms 43


External Ids:

Disease Ontology8 DOID:0050473
MeSH35 D056769
OMIM47 203800
MESH via Orphanet36 D056769
ICD10 via Orphanet26 E66.0, H35.5
SNOMED-CT via Orphanet58 63702009
UMLS via Orphanet62 C0268425

Related Diseases for Alstrom Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Alstrom Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome30.1ALMS1
2short stature30.0SLC4A4, LEP, INS
3alstr�m syndrome10.6
4alström syndrome10.4
5alzheimer's disease10.2
6n syndrome10.2
7acral lentiginous melanoma10.2
8lupus nephritis10.2
9nephritis10.2
10acute liver failure10.1
11empty sella syndrome10.1
12adult syndrome10.1
13acute leukemia10.1
14char syndrome10.1
15short syndrome10.1
16bod syndrome10.1
17leber congenital amaurosis10.0RPGR
18dumping syndrome10.0SST
19diabetic retinopathy10.0INS
20rabson-mendenhall syndrome10.0INS
21proliferative diabetic retinopathy10.0SST
22acquired generalized lipodystrophy10.0LEP
23intestinal disease10.0SST
24liver cirrhosis10.0LEP
25uremia10.0LEP
26transvestism10.0SLC4A4
27glucagonoma10.0SST
28thyroid cancer10.0SST
29hyperinsulinemic hypoglycemia10.0INS, SST
30gastritis10.0TGFA, SST
31duodenal ulcer10.0SST, INS
32pituitary gland disease10.0SST, INS
33blindness10.0RPGR, INS, ALMS1
34cushing's syndrome10.0SST, INS
35rhyns syndrome10.0SLC4A4, RPGR
36hypogonadism10.0LEP, INS
37familial partial lipodystrophy10.0LEP, INS
38hypothyroidism10.0LEP, INS
39pituitary adenoma10.0SST, LEP
40fetal macrosomia10.0LEP, INS
41eating disorder10.0INS, LEP
42congenital generalized lipodystrophy type 210.0LEP, INS
43growth hormone deficiency10.0LEP, INS
44glucose intolerance10.0LEP, INS
45morbid obesity10.0LEP, INS
46lipodystrophy10.0LEP, INS
47metabolic syndrome x10.0INS, LEP
48adrenal gland hyperfunction10.0SST, LEP
49hypertriglyceridemia10.0LEP, INS
50anovulation10.0LEP, INS

Graphical network of the top 20 diseases related to Alstrom Syndrome:



Diseases related to alstrom syndrome

Clinical Features for Alstrom Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

203800

Clinical synopsis from OMIM:

203800

Symptoms:

49 (show all 55)
  • autosomal recessive inheritance
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • nystagmus
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypothyroidy
  • precocious puberty
  • cataract/lens opacification
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • insulin-independent/type 2 diabetes
  • chronic/relapsing otitis
  • repeat respiratory infections
  • sensorineural deafness/hearing loss
  • short stature/dwarfism/nanism
  • visual loss/blindness/amblyopia
  • photophobia
  • renal tubular defect/tubulopathy
  • renal failure
  • portal hypertension
  • lung fibrosis
  • cardiomyopathy/hypertrophic/dilated
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • hirsutism/hypertrichosis/increased body hair
  • heart/cardiac failure
  • cirrhosis
  • pulmonary hypertension
  • autism/autistic disoders
  • abnormal/polycystic ovaries
  • early death in adulthood
  • renal glomerular defect/glomerulopathy
  • psychosis/schizophrenia/maniac disorder
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • obsessive-compulsive disorder
  • vesicorenal/vesicoureteral reflux
  • sterility/hypofertility
  • round face
  • asthma/bronchospasm
  • deepset eyes/enophthalmos
  • retinal/chorioretinal dysplasia/dystrophy
  • renal/kidney calcifications/nephrocalcinosis
  • renovascular hypertension
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • acanthosis nigricans
  • hyperinsulinism/hyperinsulinemia
  • truncal obesity
  • alopecia
  • abnormal fat distribution/lipodystrophy
  • insulin resistance
  • liver/hepatic steatosis
  • chronic hepatic failure

Drugs & Therapeutics for Alstrom Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Alstrom Syndrome

Drug clinical trials:

Search ClinicalTrials for Alstrom Syndrome

Search NIH Clinical Center for Alstrom Syndrome

Search CenterWatch for Alstrom Syndrome

Genetic Tests for Alstrom Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Alstrom Syndrome:

id Genetic test Affiliating Genes
1 Alstrom Syndrome20 22 ALMS1

Anatomical Context for Alstrom Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Alstrom Syndrome:

33
Liver, Kidney, Heart

Animal Models for Alstrom Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Alstrom Syndrome

Sources:
51PubMed
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Articles related to Alstrom Syndrome:

(show all 23)
idTitleAuthorsYear
1
Presentation and course of diabetes in children and adolescents with Alstrom syndrome. (21518413)
2011
2
Alstrom syndrome: A rare genetic disorder and its anaesthetic significance. (20661355)
2010
3
Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype. (20108498)
2009
4
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879439)
2007
5
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879432)
2007
6
Alstrom syndrome (OMIM 203800): a case report and literature review. (18154657)
2007
7
Alstrom syndrome in four sibs from northern Jordan. (17146208)
2006
8
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. (16720663)
2006
9
Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. (16669965)
2006
10
Alstrom syndrome. (12038666)
2002
11
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. (11941369)
2002
12
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. (11941370)
2002
13
Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. (11386758)
2001
14
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. (11343329)
2001
15
Alstrom syndrome in two siblings. (11265260)
2001
16
Alstrom syndrome: a case report. (11732744)
2001
17
Alstrom syndrome with hepatic dysfunction: report of one case. (11100527)
2000
18
Acute lymphoblastic leukemia in one of two siblings with Alstrom syndrome. (11061078)
2000
19
Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs. (10882760)
2000
20
TGFA: exon-intron structure and evaluation as a candidate gene for Alstrom syndrome. (10066034)
1999
21
Human DCTN1: genomic structure and evaluation as a candidate for Alstrom syndrome. (9799602)
1998
22
The Alstrom syndrome: a new variant? (8181924)
1994
23
Alstrom syndrome. (1800358)
1991

Genetic Variations for Alstrom Syndrome

Expression for genes affiliated with Alstrom Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Alstrom Syndrome

Search GEO for disease gene expression data for Alstrom Syndrome.

Pathways for genes affiliated with Alstrom Syndrome

Sources:
54Reactome
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Pathways related to Alstrom Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SLC4A4, SLC4A5

Compounds for genes affiliated with Alstrom Syndrome

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 24HMDB, 2BitterDB
See all sources

Compounds related to Alstrom Syndrome according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1glipizide45 1111.0INS, SST
2exenatide45 1111.0LEP, INS
3pramlintide45 1111.0INS, LEP
4sibutramine45 1111.0INS, LEP
5beta-hydroxybutyrate459.9LEP, INS
6nash459.9LEP, INS
7acipimox45 2910.8LEP, INS, SST
8intralipid459.8LEP, INS, SST
9telmisartan45 29 1111.7LEP, INS
10orlistat45 60 1111.7LEP, INS
11c-peptide459.7LEP, INS, SST
12sodium bicarbonate45 1110.6SLC4A5, SLC4A4
13oxyntomodulin45 6010.6SST, LEP, TGFA
14cortisone45 2410.6LEP, INS
15thyroxine45 2410.5LEP, INS, SST
16hydrocortisone45 2 60 1112.4TGFA, INS, SST
17cyproteroneacetate459.2TGFA, INS
18gnrh459.2SST, INS, LEP, TGFA
19epinephrine45 11 2411.2SST, INS, LEP, TGFA
20norepinephrine45 11 2411.2SST, INS, LEP, TGFA
21rapamycin459.1TGFA, LEP, INS, SST
22lactate459.0SST, INS, SLC4A4, TGFA
23glutamate458.6TGFA, SLC4A4, LEP, INS, SST, RPGR

GO Terms for genes affiliated with Alstrom Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Alstrom Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1centrosomeGO:0058139.4ALMS1, DCTN1, RPGR, RPGRIP1L

Biological processes related to Alstrom Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of mitosisGO:0458409.5TGFA, INS
2positive regulation of insulin receptor signaling pathwayGO:0466289.4LEP, INS

Molecular functions related to Alstrom Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1inorganic anion exchanger activityGO:0054529.6SLC4A4, SLC4A5
2sodium:bicarbonate symporter activityGO:0085109.5SLC4A4, SLC4A5
3hormone activityGO:0051799.1LEP, INS, SST

Products for genes affiliated with Alstrom Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alstrom Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet