ALMS
MCID: ALS001
MIFTS: 62

Alstrom Syndrome (ALMS) malady

Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases categories

Summaries for Alstrom Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 alström syndrome, is related to bardet-biedl syndrome and obesity, and has symptoms including pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria, clitoris/labia majora/labia minora/female external genitalia hypoplasia and abnormal/polycystic ovaries. 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 kidney, heart and liver, 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:63 Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the... more...

Description from OMIM:46 203800

GeneReviews summary for alstrom

Aliases & Classifications for Alstrom Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 48Orphanet, 20GeneTests, 22GTR, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 21 46 10 44 60
alström syndrome 19 42 21 48
alstrom's syndrome 42 20 22
alms 42 21
alstrom-hallgren syndrome 21
alss 42


External Ids:

Disease Ontology8 DOID:0050473
MeSH34 D056769
OMIM46 203800
MESH via Orphanet35 D056769
ICD10 via Orphanet26 E66.0, H35.5
SNOMED-CT via Orphanet57 63702009
UMLS via Orphanet61 C0268425

Related Diseases for Alstrom Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Alstrom Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome30.1ALMS1
2obesity10.3
3acral lentiginous melanoma10.2
4acute liver failure10.1
5empty sella syndrome10.1
6alzheimer's disease10.1
7acute leukemia10.1
8hepatitis10.1
9leukemia10.1
10liver disease10.1
11lymphoblastic leukemia10.1
12neuronitis10.0
13melanoma10.0
14leber congenital amaurosis10.0RPGR
15dumping syndrome10.0SST
16diabetic retinopathy10.0INS
17rabson-mendenhall syndrome10.0INS
18proliferative diabetic retinopathy10.0SST
19acquired generalized lipodystrophy10.0LEP
20intestinal disease10.0SST
21liver cirrhosis10.0LEP
22uremia10.0LEP
23transvestism10.0SLC4A4
24glucagonoma10.0SST
25thyroid cancer10.0SST
26hyperinsulinemic hypoglycemia10.0INS, SST
27gastritis10.0TGFA, SST
28duodenal ulcer10.0SST, INS
29pituitary gland disease10.0SST, INS
30blindness10.0RPGR, INS, ALMS1
31cushing's syndrome10.0SST, INS
32rhyns syndrome10.0SLC4A4, RPGR
33hypogonadism10.0LEP, INS
34familial partial lipodystrophy10.0LEP, INS
35hypothyroidism10.0LEP, INS
36pituitary adenoma10.0SST, LEP
37fetal macrosomia10.0LEP, INS
38eating disorder10.0INS, LEP
39congenital generalized lipodystrophy type 210.0LEP, INS
40growth hormone deficiency10.0LEP, INS
41glucose intolerance10.0LEP, INS
42morbid obesity10.0LEP, INS
43lipodystrophy10.0LEP, INS
44metabolic syndrome x10.0INS, LEP
45adrenal gland hyperfunction10.0SST, LEP
46hypertriglyceridemia10.0LEP, INS
47anovulation10.0LEP, INS
48precocious puberty10.0TGFA, LEP
49prader-willi syndrome10.0LEP, INS
50acromegaly10.0LEP, INS, SST

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



Diseases related to alstrom syndrome

Clinical Features for Alstrom Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

203800

Clinical synopsis from OMIM:

203800

Symptoms:

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

Drugs & Therapeutics for Alstrom Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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20GeneTests, 22GTR
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Genetic tests related to Alstrom Syndrome:

id Genetic test Affiliating Genes
1 Alstrom Syndrome20 22 ALMS1

Anatomical Context for Alstrom Syndrome

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32MalaCards
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MalaCards organs/tissues related to Alstrom Syndrome:

32
Kidney, Heart, Liver, Lung, Eye, Cerebellum, Ovary, Testes

Animal Models for Alstrom Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Alstrom Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.1TGFA, ALMS1, SLC4A5, LEP, INS, RPGRIP1L
2MP:00053918.0TGFA, RPGRIP1L, RPGR, INS, LEP, SLC4A4
3MP:00053678.0RPGRIP1L, INS, LEP, SLC4A5, SLC4A4, ALMS1
4MP:00036317.0RPGRIP1L, RPGR, LBX2, DCTN1, SST, INS

Publications for Alstrom Syndrome

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50PubMed
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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

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Expression for genes affiliated with Alstrom Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome
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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

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44Novoseek, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 24HMDB, 2BitterDB
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Compounds related to Alstrom Syndrome according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1glipizide44 1111.0INS, SST
2exenatide44 1111.0LEP, INS
3pramlintide44 1111.0INS, LEP
4sibutramine44 1111.0INS, LEP
5beta-hydroxybutyrate449.9LEP, INS
6nash449.9LEP, INS
7acipimox44 2810.8LEP, INS, SST
8intralipid449.8LEP, INS, SST
9telmisartan44 28 1111.7LEP, INS
10orlistat44 59 1111.7LEP, INS
11c-peptide449.7LEP, INS, SST
12sodium bicarbonate44 1110.6SLC4A5, SLC4A4
13oxyntomodulin44 5910.6SST, LEP, TGFA
14cortisone44 2410.6LEP, INS
15thyroxine44 2410.5LEP, INS, SST
16hydrocortisone44 2 59 1112.4TGFA, INS, SST
17cyproteroneacetate449.2TGFA, INS
18gnrh449.2SST, INS, LEP, TGFA
19epinephrine44 11 2411.2SST, INS, LEP, TGFA
20norepinephrine44 11 2411.2SST, INS, LEP, TGFA
21rapamycin449.1TGFA, LEP, INS, SST
22lactate449.0SST, INS, SLC4A4, TGFA
23glutamate448.6TGFA, SLC4A4, LEP, INS, SST, RPGR

GO Terms for genes affiliated with Alstrom Syndrome

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alstrom Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet