ALMS
MCID: ALS001
MIFTS: 66

Alstrom Syndrome (ALMS) malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Alstrom Syndrome

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Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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MedlinePlus:34 If you have low vision, eyeglasses, contact lenses, medicine, or surgery may not help. activities like reading, shopping, cooking, writing, and watching tv may be hard to do. the leading causes of low vision and blindness in the united states are age-related eye diseases: macular degeneration, cataract and glaucoma. other eye disorders, eye injuries and birth defects can also cause vision loss. whatever the cause, lost vision cannot be restored. it can, however, be managed. a loss of vision means that you may have to reorganize your life and learn new ways of doing things. if you have some vision, visual aids such as special glasses and large print books can make life easier. there are also devices to help those with no vision, like text-reading software and braille books. the sooner vision loss or eye disease is found and treated, the greater your chances of keeping your remaining vision. you should have regular comprehensive eye exams by an eye care professional. nih: national eye institute

MalaCards: Alstrom Syndrome, also known as alström syndrome, is related to blindness and short stature, 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 are Selected targets of GCR alpha and Signaling events mediated by PTP1B. The compounds glipizide and exenatide have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and heart, and related mouse phenotypes are adipose tissue 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.

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

Wikipedia:65 Alstr more...

Description from OMIM:47 203800

GeneReviews summary for alstrom

Aliases & Classifications for Alstrom Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 62UMLS, 35MeSH, 36MESH via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
alström syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

alstrom syndrome 8 9 19 43 21 47 10 45 62
alström syndrome 65 19 43 21 49
alstrom's syndrome 43 20 22
vision impairment and blindness 65 34
alms 43 21
alstrom-hallgren syndrome 21
alss 43


External Ids:

Disease Ontology8 DOID:0050473
MeSH35 D056769
OMIM47 203800
MESH via Orphanet36 D056769
SNOMED-CT via Orphanet59 63702009
UMLS via Orphanet63 C0268425
ICD10 via Orphanet26 Q87.8

Related Diseases for Alstrom Syndrome

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Sources:
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 51)
idRelated DiseaseScoreTop Affiliating Genes
1blindness30.3ALMS1, INS
2short stature30.1SLC4A4, LEP, INS
3obesity10.3
4dumping syndrome10.1SST
5acute liver failure10.1
6alzheimer's disease10.1
7hepatitis10.1
8leukemia10.1
9liver disease10.1
10lymphoblastic leukemia10.1
11acquired generalized lipodystrophy10.1LEP
12rabson-mendenhall syndrome10.1INS
13adrenal gland hyperfunction10.0LEP, SST
14huntington's disease10.0SST, DCTN1
15precocious puberty10.0TGFA, LEP
16cushing's syndrome10.0LEP, SST
17pituitary gland disease10.0INS, SST
18hyperinsulinemic hypoglycemia10.0INS, SST
19duodenal ulcer10.0INS, SST
20gastritis10.0SST, TGFA
21familial partial lipodystrophy10.0LEP, INS
22fetal macrosomia10.0LEP, INS
23congenital generalized lipodystrophy type 210.0INS, LEP
24metabolic syndrome x10.0INS, LEP
25anovulation10.0LEP, INS
26eating disorder10.0INS, LEP
27amenorrhea10.0LEP, INS
28growth hormone deficiency10.0INS, LEP
29morbid obesity10.0LEP, INS
30polycystic ovary syndrome10.0LEP, INS
31gestational diabetes10.0INS, LEP
32hyperandrogenism10.0LEP, INS
33lipodystrophy10.0INS, LEP
34prader-willi syndrome10.0LEP, INS
35fatty liver disease10.0LEP, INS
36diarrhea10.0SST, INS
37hypogonadism10.0LEP, INS
38glucose intolerance10.0INS, LEP
39hypertriglyceridemia10.0INS, LEP
40hypopituitarism10.0INS, LEP, SST
41acromegaly10.0SST, LEP, INS
42hyperthyroidism10.0INS, LEP, SST
43galactosemia10.0INS, LEP, SST
44hyperinsulinism10.0SST, LEP, INS
45type 1 diabetes mellitus10.0SST, LEP, INS
46acanthosis nigricans10.0TGFA, LEP, INS
47hyperglycemia10.0SST, LEP, INS
48primary hyperoxaluria9.9INS, LEP
49insulin resistance9.9SST, LEP, INS
50diabetes mellitus9.9SST, LEP, INS

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



Diseases related to alstrom syndrome

Symptoms for Alstrom Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

203800

Clinical features from OMIM:

203800

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Alstrom Syndrome

Search NIH Clinical Center for Alstrom Syndrome

Genetic Tests for Alstrom Syndrome

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Sources:
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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33MalaCards
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MalaCards organs/tissues related to Alstrom Syndrome:

33
Kidney, Eye, Heart, Liver, Lung, Cerebellum, Ovary, Testes

Animal Models for Alstrom Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Alstrom Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9ALMS1, TGFA, LEP, INS
2MP:00053918.5INS, LEP, TGFA, ALMS1, SLC4A4
3MP:00053818.5INS, LEP, TGFA, SST, SLC4A4
4MP:00053678.5INS, LEP, ALMS1, SLC4A5, SLC4A4
5MP:00053798.1INS, LEP, TGFA, ALMS1, SLC4A5
6MP:00053858.1SLC4A4, SLC4A5, TGFA, LEP, INS
7MP:00053878.1INS, LEP, TGFA, SST, ALMS1, SLC4A4
8MP:00053787.8INS, LEP, TGFA, SST, ALMS1, SLC4A4
9MP:00036317.3SLC4A4, SLC4A5, SST, DCTN1, LEP, INS
10MP:00053767.3LBX2, INS, LEP, SST, ALMS1, SLC4A5

Publications for Alstrom Syndrome

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Sources:
52PubMed
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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

Variations for Alstrom Syndrome

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Alstrom Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1ALMS1ALMS1, 333-BP ALU INS, EX16insertionPathogenic/card/alstrom_syndrome
2ALMS1ALMS1, 19-BP INSinsertionPathogenic/card/alstrom_syndrome
3ALMS1NM_015120.4(ALMS1): c.8383C> T (p.Gln2795Ter)single nucleotide variantPathogenicrs193919338GRCh37Chr 2, 73717466: 73717466
4ALMS1NM_015120.4(ALMS1): c.10775delC (p.Thr3592Lysfs)deletionPathogenicrs387906312GRCh37Chr 2, 73799776: 73799776
5ALMS1NM_015120.4(ALMS1): c.2141_2142delCT (p.Ser714Tyrfs)deletionPathogenicrs387906313GRCh37Chr 2, 73675792: 73675793
6ALMS1NM_015120.4(ALMS1): c.10992G> A (p.Trp3664Ter)single nucleotide variantPathogenicrs193919339GRCh37Chr 2, 73799993: 73799993
7ALMS1NM_015120.4(ALMS1): c.10945G> T (p.Glu3649Ter)single nucleotide variantPathogenicrs397514576GRCh37Chr 2, 73799946: 73799946
8ALMS1NM_015120.4(ALMS1): c.8164C> T (p.Arg2722Ter)single nucleotide variantPathogenicrs193919340GRCh37Chr 2, 73717247: 73717247

Expression for genes affiliated with Alstrom Syndrome

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2BioGPS, 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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Sources:
50PathCards, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 55Reactome
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Compounds for genes affiliated with Alstrom Syndrome

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Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 61Tocris Bioscience, 3BitterDB
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Compounds related to Alstrom Syndrome according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1glipizide45 51 1112.1SST, INS
2exenatide45 1111.1LEP, INS
3pramlintide45 1111.1INS, LEP
4sibutramine45 1111.1INS, LEP
5beta-hydroxybutyrate4510.1INS, LEP
6nash4510.1LEP, INS
7telmisartan45 29 1112.0INS, LEP
8cortisone45 2411.0LEP, INS
9orlistat45 61 1112.0INS, LEP
10diazoxide45 61 29 1113.0SST, INS
11tolbutamide45 29 51 1113.0SST, INS
12thiazolidinedione4510.0INS, LEP
13naloxone45 29 51 1113.0SST, LEP
148-isoprostane4510.0INS, LEP
15aicar45 24 1111.9LEP, INS
16clonidine45 51 29 1112.9SST, LEP
17streptozotocin459.9INS, SST
18dehydroepiandrosterone sulfate459.9LEP, INS
19cyproteroneacetate459.9INS, TGFA
20fenofibrate45 51 1111.8LEP, INS
21acipimox45 2910.8SST, LEP, INS
22intralipid459.8SST, LEP, INS
23Hydrogen carbonate249.8SLC4A5, SLC4A4
24c-peptide459.8SST, LEP, INS
25sodium bicarbonate45 1110.8SLC4A4, SLC4A5
26glibenclamide45 29 51 6112.8LEP, INS
27thyroxine45 2410.7SST, LEP, INS
28octreotide45 61 29 1112.7INS, SST
29acth459.7SST, LEP, INS
30dhea459.7LEP, INS
31oxyntomodulin45 6110.7LEP, TGFA, SST
32hydrocortisone45 3 61 1112.6SST, TGFA, INS
33metformin45 51 1111.6LEP, INS
34gaba459.6SST, TGFA, LEP
35acetylcholine45 51 29 24 1113.5SST, TGFA, LEP
36ly294002459.4INS, LEP, TGFA
37olanzapine45 51 29 24 1113.4LEP, INS
38gnrh459.3SST, TGFA, LEP, INS
39epinephrine45 24 1111.3INS, LEP, TGFA, SST
40norepinephrine45 24 1111.2INS, LEP, TGFA, SST
41rapamycin459.2SST, TGFA, LEP, INS
42testosterone45 61 24 1112.2SST, TGFA, LEP, INS
43lactate459.2INS, TGFA, SST, SLC4A4
44arginine459.1SST, TGFA, LEP, INS
45glutamate458.8INS, LEP, TGFA, SST, SLC4A4

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
1extracellular spaceGO:0056158.8SST, TGFA, LEP, INS

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of insulin receptor signaling pathwayGO:0466289.8LEP, INS
2positive regulation of MAPK cascadeGO:0434109.7INS, LEP
3positive regulation of mitosisGO:0458409.7TGFA, INS
4MAPK cascadeGO:0001659.5TGFA, INS
5bicarbonate transportGO:0157019.5SLC4A4, SLC4A5
6sodium ion transmembrane transportGO:0357259.3SLC4A4, SLC4A5
7wound healingGO:0420609.2TGFA, INS

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

idNameGO IDScoreTop Affiliating Genes
1inorganic anion exchanger activityGO:0054529.4SLC4A4, SLC4A5
2sodium:bicarbonate symporter activityGO:0085109.3SLC4A4, SLC4A5
3hormone activityGO:0051799.0SST, LEP, INS

Products for genes affiliated with Alstrom Syndrome

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Alstrom Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet