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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MedlinePlus:33 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 based summary: Alstrom Syndrome, also known as alström syndrome, is related to blindness and short stature, and has symptoms including retinal/chorioretinal dysplasia/dystrophy, sensorineural deafness/hearing loss and autosomal recessive inheritance. 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: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

Wikipedia:65 Alstr more...

Description from OMIM:46 203800

GeneReviews summary for alstrom

Aliases & Classifications for Alstrom Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 62UMLS, 65Wikipedia, 48Orphanet, 33MedlinePlus, 20GeneTests, 22GTR, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Alstrom Syndrome, Aliases & Descriptions:

Name: Alstrom Syndrome 8 9 19 42 21 46 10 44 62
Alström Syndrome 65 19 42 21 48
Alstrom's Syndrome 42 20 22
Vision Impairment and Blindness 65 33
 
Alstrom-Hallgren Syndrome 21 62
Alss 42 62
Alms 42 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
alström syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Adult


External Ids:

Disease Ontology8 DOID:0050473
MeSH34 D056769
OMIM46 203800
MESH via Orphanet35 D056769
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0268425

Related Diseases for Alstrom Syndrome

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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 stature29.9SLC4A4, LEP, INS
3dumping syndrome10.4SST
4acquired generalized lipodystrophy10.4LEP
5obesity10.4
6rabson-mendenhall syndrome10.3INS
7adrenal gland hyperfunction10.2LEP, SST
8huntington's disease10.2SST, DCTN1
9precocious puberty10.1TGFA, LEP
10acute liver failure10.1
11acute lymphoblastic leukemia10.1
12hepatitis10.1
13leukemia10.1
14liver disease10.1
15lymphoblastic leukemia10.1
16cushing's syndrome10.1LEP, SST
17pituitary gland disease10.1INS, SST
18hyperinsulinemic hypoglycemia10.1INS, SST
19duodenal ulcer10.1INS, 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 disease9.9LEP, INS
36diarrhea9.9SST, INS
37hypogonadism9.9LEP, INS
38glucose intolerance9.9INS, LEP
39hypertriglyceridemia9.8INS, LEP
40hypopituitarism9.8INS, LEP, SST
41acromegaly9.8SST, LEP, INS
42hyperthyroidism9.8INS, LEP, SST
43galactosemia9.8INS, LEP, SST
44hyperinsulinism9.8SST, LEP, INS
45type 1 diabetes mellitus9.8SST, LEP, INS
46acanthosis nigricans9.8TGFA, LEP, INS
47hyperglycemia9.8SST, LEP, INS
48primary hyperoxaluria9.8INS, LEP
49insulin resistance9.8SST, LEP, INS
50diabetes mellitus9.7SST, 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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Symptoms by clinical synopsis from OMIM:

203800

Clinical features from OMIM:

203800

Symptoms:

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

HPO human phenotypes related to Alstrom Syndrome:

(show all 97)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 chorioretinal abnormality hallmark (90%) HP:0000532
3 truncal obesity hallmark (90%) HP:0001956
4 short stature hallmark (90%) HP:0004322
5 otitis media typical (50%) HP:0000388
6 visual impairment typical (50%) HP:0000505
7 cataract typical (50%) HP:0000518
8 photophobia typical (50%) HP:0000613
9 nystagmus typical (50%) HP:0000639
10 hyperinsulinemia typical (50%) HP:0000842
11 insulin resistance typical (50%) HP:0000855
12 acanthosis nigricans typical (50%) HP:0000956
13 hypertrophic cardiomyopathy typical (50%) HP:0001639
14 pulmonary hypertension typical (50%) HP:0002092
15 respiratory insufficiency typical (50%) HP:0002093
16 asthma typical (50%) HP:0002099
17 recurrent respiratory infections typical (50%) HP:0002205
18 abnormality of lipid metabolism typical (50%) HP:0003119
19 type ii diabetes mellitus typical (50%) HP:0005978
20 abnormality of the testis occasional (7.5%) HP:0000035
21 abnormality of female external genitalia occasional (7.5%) HP:0000055
22 vesicoureteral reflux occasional (7.5%) HP:0000076
23 renal insufficiency occasional (7.5%) HP:0000083
24 abnormality of the renal tubule occasional (7.5%) HP:0000091
25 nephrocalcinosis occasional (7.5%) HP:0000121
26 decreased fertility occasional (7.5%) HP:0000144
27 polycystic ovaries occasional (7.5%) HP:0000147
28 round face occasional (7.5%) HP:0000311
29 deeply set eye occasional (7.5%) HP:0000490
30 autism occasional (7.5%) HP:0000717
31 obsessive-compulsive behavior occasional (7.5%) HP:0000722
32 abnormality of the urethra occasional (7.5%) HP:0000795
33 hypothyroidism occasional (7.5%) HP:0000821
34 precocious puberty occasional (7.5%) HP:0000826
35 hypertrichosis occasional (7.5%) HP:0000998
36 seizures occasional (7.5%) HP:0001250
37 cirrhosis occasional (7.5%) HP:0001394
38 hepatic steatosis occasional (7.5%) HP:0001397
39 portal hypertension occasional (7.5%) HP:0001409
40 alopecia occasional (7.5%) HP:0001596
41 congestive heart failure occasional (7.5%) HP:0001635
42 splenomegaly occasional (7.5%) HP:0001744
43 pulmonary fibrosis occasional (7.5%) HP:0002206
44 hepatomegaly occasional (7.5%) HP:0002240
45 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
46 abnormality of adipose tissue occasional (7.5%) HP:0009124
47 cognitive impairment occasional (7.5%) HP:0100543
48 chronic hepatic failure occasional (7.5%) HP:0100626
49 renovascular hypertension occasional (7.5%) HP:0100817
50 glomerulopathy occasional (7.5%) HP:0100820
51 autosomal recessive inheritance HP:0000007
52 renal insufficiency HP:0000083
53 nephritis HP:0000123
54 abnormality of the teeth HP:0000164
55 gingivitis HP:0000230
56 otitis media HP:0000388
57 progressive sensorineural hearing impairment HP:0000408
58 subcapsular cataract HP:0000523
59 cone-rod dystrophy HP:0000548
60 pigmentary retinopathy HP:0000580
61 photophobia HP:0000613
62 blindness HP:0000618
63 nystagmus HP:0000639
64 gynecomastia HP:0000771
65 hypergonadotropic hypogonadism HP:0000815
66 hypothyroidism HP:0000821
67 hypertension HP:0000822
68 growth hormone deficiency HP:0000824
69 insulin-resistant diabetes mellitus HP:0000831
70 hyperinsulinemia HP:0000842
71 menstrual irregularities HP:0000858
72 diabetes insipidus HP:0000873
73 acanthosis nigricans HP:0000956
74 abnormality of the hand HP:0001155
75 global developmental delay HP:0001263
76 hepatic steatosis HP:0001397
77 alopecia HP:0001596
78 congestive heart failure HP:0001635
79 dilated cardiomyopathy HP:0001644
80 pes planus HP:0001763
81 truncal obesity HP:0001956
82 tubulointerstitial nephritis HP:0001970
83 asthma HP:0002099
84 hyperuricemia HP:0002149
85 hypertriglyceridemia HP:0002155
86 hepatomegaly HP:0002240
87 atherosclerosis HP:0002621
88 scoliosis HP:0002650
89 kyphosis HP:0002808
90 elevated hepatic transaminases HP:0002910
91 hypoalphalipoproteinemia HP:0003233
92 short stature HP:0004322
93 hyperostosis frontalis interna HP:0004438
94 accelerated skeletal maturation HP:0005616
95 multinodular goiter HP:0005987
96 recurrent pneumonia HP:0006532
97 chronic active hepatitis HP:0200120

Drugs & Therapeutics for Alstrom Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Alstrom Syndrome

Genetic Tests for Alstrom Syndrome

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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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MalaCards organs/tissues related to Alstrom Syndrome:

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

Animal Models for Alstrom Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Alstrom Syndrome:

36
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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Articles related to Alstrom Syndrome:

(show all 23)
idTitleAuthorsYear
1
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. (24503146)
2014
2
Presentation and course of diabetes in children and adolescents with Alstrom syndrome. (21518413)
2011
3
Alstrom syndrome: A rare genetic disorder and its anaesthetic significance. (20661355)
2010
4
Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype. (20108498)
2009
5
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879439)
2007
6
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879432)
2007
7
Alstrom syndrome (OMIM 203800): a case report and literature review. (18154657)
2007
8
Alstrom syndrome in four sibs from northern Jordan. (17146208)
2006
9
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
10
Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. (16669965)
2006
11
Alstrom syndrome. (12038666)
2002
12
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. (11941369)
2002
13
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. (11941370)
2002
14
Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. (11386758)
2001
15
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. (11343329)
2001
16
Alstrom syndrome in two siblings. (11265260)
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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Clinvar genetic disease variations for Alstrom Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1ALMS1ALMS1, 333-BP ALU INS, EX16insertionPathogenic
2ALMS1ALMS1, 19-BP INSinsertionPathogenic
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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Expression patterns in normal tissues for genes affiliated with Alstrom Syndrome

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Pathways for genes affiliated with Alstrom Syndrome

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Compounds for genes affiliated with Alstrom Syndrome

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Compounds related to Alstrom Syndrome according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1glipizide44 50 1112.1SST, INS
2exenatide44 1111.1LEP, INS
3pramlintide44 1111.1INS, LEP
4sibutramine44 1111.1INS, LEP
5beta-hydroxybutyrate4410.1INS, LEP
6nash4410.1LEP, INS
7telmisartan44 28 1112.0INS, LEP
8cortisone44 2411.0LEP, INS
9orlistat44 61 1112.0INS, LEP
10diazoxide44 61 28 1113.0SST, INS
11tolbutamide44 28 50 1113.0SST, INS
12thiazolidinedione4410.0INS, LEP
13naloxone44 28 50 1113.0SST, LEP
148-isoprostane4410.0INS, LEP
15aicar44 24 1111.9LEP, INS
16clonidine44 50 28 1112.9SST, LEP
17streptozotocin449.9INS, SST
18dehydroepiandrosterone sulfate449.9LEP, INS
19cyproteroneacetate449.9INS, TGFA
20fenofibrate44 50 1111.8LEP, INS
21acipimox44 2810.8SST, LEP, INS
22intralipid449.8SST, LEP, INS
23Hydrogen carbonate249.8SLC4A5, SLC4A4
24c-peptide449.8SST, LEP, INS
25sodium bicarbonate44 1110.8SLC4A4, SLC4A5
26glibenclamide44 28 50 6112.8LEP, INS
27thyroxine44 2410.7SST, LEP, INS
28octreotide44 61 28 1112.7INS, SST
29acth449.7SST, LEP, INS
30dhea449.7LEP, INS
31oxyntomodulin44 6110.7LEP, TGFA, SST
32hydrocortisone44 2 61 1112.6SST, TGFA, INS
33metformin44 50 1111.6LEP, INS
34gaba449.6SST, TGFA, LEP
35acetylcholine44 50 28 24 1113.5SST, TGFA, LEP
36ly294002449.4INS, LEP, TGFA
37olanzapine44 50 28 24 1113.4LEP, INS
38gnrh449.3SST, TGFA, LEP, INS
39epinephrine44 24 1111.3INS, LEP, TGFA, SST
40norepinephrine44 24 1111.2INS, LEP, TGFA, SST
41rapamycin449.2SST, TGFA, LEP, INS
42testosterone44 61 24 1112.2SST, TGFA, LEP, INS
43lactate449.2INS, TGFA, SST, SLC4A4
44arginine449.1SST, TGFA, LEP, INS
45glutamate448.8INS, LEP, TGFA, SST, SLC4A4

GO Terms for genes affiliated with Alstrom Syndrome

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet