Alstrom Syndrome (ALMS) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Alstrom Syndrome

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Aliases & Descriptions for Alstrom Syndrome:

Name: Alstrom Syndrome 52 11 23 48 24 25 70 12 50 39 13 68
Alström Syndrome 23 48 25 54
Alms 48 25 70
Alstrom's Syndrome 48 27
Alstrom-Hallgren Syndrome 25
Alstroem Syndrome 70
Alss 48


Orphanet epidemiological data:

alström syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal; Age of death: adolescent,adult,early childhood,infantile,late childhood,young Adult


alstrom syndrome:
Inheritance: autosomal recessive inheritance
Mortality/Aging: death in early adulthood


Penetrance: no clinically unaffected individuals with two alms1 pathogenic variants in trans have been reported; thus, penetrance appears to be 100% [marshall et al 2011a]...


External Ids:

OMIM52 203800
Disease Ontology11 DOID:0050473
MeSH39 D056769
NCIt45 C84549
SNOMED-CT62 63702009
Orphanet54 ORPHA64
MESH via Orphanet40 D056769
UMLS via Orphanet69 C0268425
MedGen37 C0268425

Summaries for Alstrom Syndrome

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NIH Rare Diseases:48 Alström syndrome is a rare genetic disorder that affects many body systems. symptoms develop gradually, beginning in infancy, and can be variable. in childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease (cardiomyopathy). over time, diabetes mellitus, liver problems, and slowly progressive kidney dysfunction which can lead to kidney failure may develop. alström syndrome is caused by mutations in the alms1 gene. it is inherited in an autosomal recessive manner. while there is no specific treatment for alström syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan. last updated: 6/22/2016

MalaCards based summary: Alstrom Syndrome, also known as alström syndrome, is related to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 and pnpla6-related disorders, and has symptoms including Array, Array and Array. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1, Centrosome And Basal Body Associated Protein). Affiliated tissues include kidney, heart and liver, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and renal/urinary system.

Disease Ontology:11 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.

OMIM:52 Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to... (203800) more...

UniProtKB/Swiss-Prot:70 Alstrom syndrome: A rare autosomal recessive disorder characterized by progressive cone- rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome.

Wikipedia:71 Alström syndrome, also called Alstrom-Halgren Syndrome, is a rare genetic disorder caused by... more...

GeneReviews for NBK1267

Related Diseases for Alstrom Syndrome

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

Diseases related to alstrom syndrome

Symptoms & Phenotypes for Alstrom Syndrome

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Alstrom Syndrome:

 54 64 (show all 83)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 male hypogonadism64 54 Occasional (29-5%) HP:0000026
2 abnormality of female external genitalia64 54 Occasional (29-5%) HP:0000055
3 vesicoureteral reflux64 54 Occasional (29-5%) HP:0000076
4 renal insufficiency64 54 Occasional (29-5%) HP:0000083
5 nephrocalcinosis64 54 Occasional (29-5%) HP:0000121
6 polycystic ovaries64 54 Occasional (29-5%) HP:0000147
7 round face64 54 Occasional (29-5%) HP:0000311
8 chronic otitis media64 54 Frequent (79-30%) HP:0000389
9 progressive sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000408
10 deeply set eye64 54 Occasional (29-5%) HP:0000490
11 cataract64 54 Frequent (79-30%) HP:0000518
12 progressive visual loss64 54 Frequent (79-30%) HP:0000529
13 chorioretinal abnormality64 54 Very frequent (99-80%) HP:0000532
14 cone-rod dystrophy54 Very frequent (99-80%)
15 photophobia64 54 Frequent (79-30%) HP:0000613
16 blindness64 54 Frequent (79-30%) HP:0000618
17 nystagmus64 54 Frequent (79-30%) HP:0000639
18 depression64 54 Occasional (29-5%) HP:0000716
19 autism64 54 Occasional (29-5%) HP:0000717
20 obsessive-compulsive behavior64 54 Occasional (29-5%) HP:0000722
21 abnormality of the urethra64 54 Occasional (29-5%) HP:0000795
22 hypothyroidism64 54 Occasional (29-5%) HP:0000821
23 precocious puberty64 54 Occasional (29-5%) HP:0000826
24 hyperinsulinemia64 54 Frequent (79-30%) HP:0000842
25 insulin resistance64 54 Frequent (79-30%) HP:0000855
26 acanthosis nigricans64 54 Frequent (79-30%) HP:0000956
27 intellectual disability64 54 Occasional (29-5%) HP:0001249
28 seizures64 54 Occasional (29-5%) HP:0001250
29 global developmental delay64 54 Occasional (29-5%) HP:0001263
30 cirrhosis64 54 Occasional (29-5%) HP:0001394
31 hepatic steatosis64 54 Occasional (29-5%) HP:0001397
32 portal hypertension64 54 Occasional (29-5%) HP:0001409
33 alopecia64 54 Occasional (29-5%) HP:0001596
34 congestive heart failure64 54 Occasional (29-5%) HP:0001635
35 dilated cardiomyopathy64 54 Frequent (79-30%) HP:0001644
36 splenomegaly64 54 Occasional (29-5%) HP:0001744
37 truncal obesity64 54 Very frequent (99-80%) HP:0001956
38 tubulointerstitial nephritis64 54 Occasional (29-5%) HP:0001970
39 pulmonary hypertension54 Frequent (79-30%)
40 respiratory insufficiency64 54 Frequent (79-30%) HP:0002093
41 asthma64 54 Frequent (79-30%) HP:0002099
42 hypertriglyceridemia64 54 Frequent (79-30%) HP:0002155
43 recurrent respiratory infections64 54 Frequent (79-30%) HP:0002205
44 pulmonary fibrosis64 54 Occasional (29-5%) HP:0002206
45 generalized hirsutism64 54 Occasional (29-5%) HP:0002230
46 hepatomegaly64 54 Occasional (29-5%) HP:0002240
47 short stature64 54 Very frequent (99-80%) HP:0004322
48 type ii diabetes mellitus64 54 Frequent (79-30%) HP:0005978
49 aplasia/hypoplasia of the cerebellum64 54 Occasional (29-5%) HP:0007360
50 decreased testicular size64 54 Occasional (29-5%) HP:0008734
51 abnormality of adipose tissue64 54 Occasional (29-5%) HP:0009124
52 death in early adulthood54 Frequent (79-30%)
53 chronic hepatic failure64 54 Occasional (29-5%) HP:0100626
54 renovascular hypertension64 54 Occasional (29-5%) HP:0100817
55 glomerulopathy64 54 Occasional (29-5%) HP:0100820
56 nephritis64 HP:0000123
57 abnormality of the teeth64 HP:0000164
58 gingivitis64 HP:0000230
59 otitis media64 HP:0000388
60 subcapsular cataract64 HP:0000523
61 cone/cone-rod dystrophy64 HP:0000548
62 pigmentary retinopathy64 HP:0000580
63 gynecomastia64 HP:0000771
64 hypergonadotropic hypogonadism64 HP:0000815
65 hypertension64 HP:0000822
66 growth hormone deficiency64 HP:0000824
67 insulin-resistant diabetes mellitus64 HP:0000831
68 menstrual irregularities64 HP:0000858
69 diabetes insipidus64 HP:0000873
70 abnormality of the hand64 HP:0001155
71 pes planus64 HP:0001763
72 hyperuricemia64 HP:0002149
73 atherosclerosis64 HP:0002621
74 scoliosis64 HP:0002650
75 kyphosis64 HP:0002808
76 elevated hepatic transaminases64 HP:0002910
77 hypoalphalipoproteinemia64 HP:0003233
78 hyperostosis frontalis interna64 HP:0004438
79 accelerated skeletal maturation64 HP:0005616
80 multinodular goiter64 HP:0005987
81 recurrent pneumonia64 HP:0006532
82 chronic active hepatitis64 HP:0200120
83 pulmonary arterial hypertension64 HP:0002092

GenomeRNAi Phenotypes related to Alstrom Syndrome according to GeneCards Suite gene sharing:

idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1928.7DLX3, NODAL, RPGR, TGFA

MGI Mouse Phenotypes related to Alstrom Syndrome according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.8ALMS1, BBS1, BBS2, INS, LEP, SLC4A4
2MP:00053808.5DCTN1, DLX3, INS, LBX2, LEP, NODAL
3MP:00053757.9ALMS1, BBS1, BBS2, INS, KCNJ11, LEP
4MP:00053697.8INS, KCNJ11, LEP, NODAL, RPGR, SLC4A4
5MP:00053897.7ALMS1, BBS1, BBS2, INS, LEP, NODAL
6MP:00053797.7ALMS1, BBS2, DLX3, INS, KCNJ11, LEP
7MP:00053917.5ALMS1, BBS1, BBS2, INS, LEP, NODAL
8MP:00053767.2ALMS1, BBS1, BBS2, DCTN1, INS, KCNJ11
9MP:00053857.0BBS1, DLX3, INS, KCNJ11, LEP, NODAL
10MP:00036316.8BBS1, BBS2, DCTN1, INS, KCNJ11, LBX2
11MP:00053786.8ALMS1, BBS1, BBS2, DLX3, INS, KCNJ11

Drugs & Therapeutics for Alstrom Syndrome

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Drugs for Alstrom Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts4067

Interventional clinical trials:

idNameStatusNCT IDPhase
1Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of ObesityRecruitingNCT03013543Phase 2, Phase 3
2Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström SyndromeRecruitingNCT02739217Phase 2
3Clinical Study of a Single Ciliopathy: Alström SyndromeRecruitingNCT02890550
4Clinical and Molecular Investigations Into CiliopathiesActive, not recruitingNCT00068224

Search NIH Clinical Center for Alstrom Syndrome

Cochrane evidence based reviews: alstrom syndrome

Genetic Tests for Alstrom Syndrome

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Genetic tests related to Alstrom Syndrome:

id Genetic test Affiliating Genes
1 Alstrom Syndrome27 24 ALMS1

Anatomical Context for Alstrom Syndrome

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MalaCards organs/tissues related to Alstrom Syndrome:

Kidney, Heart, Liver, Eye, Ovary, Cerebellum

Publications for Alstrom Syndrome

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Articles related to Alstrom Syndrome:

(show all 29)
Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. (28135309)
Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness. (27605748)
Differential effects on I^-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. (26494903)
High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease. (26603037)
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. (25864795)
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. (24503146)
Presentation and course of diabetes in children and adolescents with Alstrom syndrome. (21518413)
Alstrom syndrome: A rare genetic disorder and its anaesthetic significance. (20661355)
Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype. (20108498)
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879432)
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879439)
Alstrom syndrome (OMIM 203800): a case report and literature review. (18154657)
Alstrom syndrome in four sibs from northern Jordan. (17146208)
Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. (16669965)
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. (16720663)
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. (11941370)
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. (11941369)
Alstrom syndrome. (12038666)
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. (11343329)
Alstrom syndrome: a case report. (11732744)
Alstrom syndrome in two siblings. (11265260)
Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. (11386758)
Alstrom syndrome with hepatic dysfunction: report of one case. (11100527)
Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs. (10882760)
Acute lymphoblastic leukemia in one of two siblings with Alstrom syndrome. (11061078)
TGFA: exon-intron structure and evaluation as a candidate gene for Alstrom syndrome. (10066034)
Human DCTN1: genomic structure and evaluation as a candidate for Alstrom syndrome. (9799602)
The Alstrom syndrome: a new variant? (8181924)
Alstrom syndrome. (1800358)

Variations for Alstrom Syndrome

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Clinvar genetic disease variations for Alstrom Syndrome:

5 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1ALMS1NM_ 015120.4(ALMS1): c.10483C> T (p.Gln3495Ter)SNVPathogenicrs772624348GRCh37Chr 2, 73799484: 73799484
2ALMS1NM_ 015120.4(ALMS1): c.4156dupA (p.Thr1386Asnfs)duplicationPathogenicrs797045228GRCh37Chr 2, 73677807: 73677807
3ALMS1NM_ 015120.4(ALMS1): c.5145T> G (p.Tyr1715Ter)SNVLikely pathogenicrs772136379GRCh37Chr 2, 73678796: 73678796
4ALMS1NM_ 015120.4(ALMS1): c.2822T> A (p.Leu941Ter)SNVPathogenicrs539612316GRCh38Chr 2, 73449346: 73449346
5ALMS1NM_ 015120.4(ALMS1): c.3019dupA (p.Arg1007Lysfs)duplicationPathogenicrs878854998GRCh38Chr 2, 73449543: 73449543
6ALMS1NM_ 015120.4(ALMS1): c.9433dupA (p.Thr3145Asnfs)duplicationPathogenicrs878855003GRCh37Chr 2, 73718516: 73718516
7ALMS1NM_ 015120.4(ALMS1): c.6436C> T (p.Arg2146Ter)SNV, CompoundHeterozygotePathogenicrs770558150GRCh37Chr 2, 73680087: 73680087
8ALMS1NM_ 015120.4(ALMS1): c.5625delA (p.Ala1876Glnfs)deletionLikely pathogenicrs1057517445GRCh37Chr 2, 73679276: 73679276
9ALMS1ALMS1, 333-BP ALU INS, EX16insertionPathogenic
10ALMS1ALMS1, 19-BP INSinsertionPathogenic
11ALMS1NM_ 015120.4(ALMS1): c.8383C> T (p.Gln2795Ter)SNVPathogenicrs193919338GRCh37Chr 2, 73717466: 73717466
12ALMS1NM_ 015120.4(ALMS1): c.10775delC (p.Thr3592Lysfs)deletionPathogenicrs387906312GRCh37Chr 2, 73799776: 73799776
13ALMS1NM_ 015120.4(ALMS1): c.2141_ 2142delCT (p.Ser714Tyrfs)deletionPathogenicrs387906313GRCh37Chr 2, 73675792: 73675793
14ALMS1NM_ 015120.4(ALMS1): c.10992G> A (p.Trp3664Ter)SNVPathogenicrs193919339GRCh37Chr 2, 73799993: 73799993
15ALMS1NM_ 015120.4(ALMS1): c.10945G> T (p.Glu3649Ter)SNVPathogenicrs397514576GRCh37Chr 2, 73799946: 73799946
16ALMS1NM_ 015120.4(ALMS1): c.8164C> T (p.Arg2722Ter)SNVPathogenicrs193919340GRCh37Chr 2, 73717247: 73717247
17ALMS1NM_ 015120.4(ALMS1): c.5590C> T (p.Gln1864Ter)SNVPathogenicrs769440001GRCh38Chr 2, 73452114: 73452114
18ALMS1NM_ 015120.4(ALMS1): c.10303delCinsGA (p.Gln3435Glufs)indelPathogenicrs1060500034GRCh38Chr 2, 73559058: 73559058
19ALMS1NM_ 015120.4(ALMS1): c.7247C> A (p.Ser2416Ter)SNVPathogenicrs1060500039GRCh38Chr 2, 73453771: 73453771
20ALMS1NM_ 015120.4(ALMS1): c.363_ 366dupAGTA (p.Tyr123Serfs)duplicationPathogenicGRCh38Chr 2, 73408657: 73408660
21ALMS1NM_ 015120.4(ALMS1): c.1794_ 1801dupGGCTTTGA (p.Lys601Argfs)duplicationPathogenicrs398122991GRCh37Chr 2, 73675445: 73675452
22ALMS1NM_ 015120.4(ALMS1): c.11116_ 11134del19 (p.Arg3706Leufs)deletionPathogenicrs398122992GRCh37Chr 2, 73800117: 73800135
23ALMS1NM_ 015120.4(ALMS1): c.4296_ 4299delCACA (p.His1432Glnfs)deletionPathogenicrs398122993GRCh37Chr 2, 73677947: 73677950
24ALMS1NM_ 015120.4(ALMS1): c.5926delG (p.Glu1976Serfs)deletionPathogenicrs398122994GRCh37Chr 2, 73679577: 73679577
25ALMS1NM_ 015120.4(ALMS1): c.1900C> T (p.Gln634Ter)SNVPathogenicrs398122995GRCh37Chr 2, 73675551: 73675551

Expression for genes affiliated with Alstrom Syndrome

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Search GEO for disease gene expression data for Alstrom Syndrome.

Pathways for genes affiliated with Alstrom Syndrome

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GO Terms for genes affiliated with Alstrom Syndrome

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Cellular components related to Alstrom Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BBSomeGO:003446410.5BBS1, BBS2
2ciliary basal bodyGO:003606410.0ALMS1, BBS1, BBS2, RPGR
3ciliumGO:00059299.9ALMS1, BBS1, BBS2, RPGR
4microtubule organizing centerGO:00058159.3BBS1, BBS2, DCTN1, RPGR

Biological processes related to Alstrom Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1anion transportGO:000682010.7SLC4A4, SLC4A5
2inorganic anion transportGO:001569810.6SLC4A4, SLC4A5
3leptin-mediated signaling pathwayGO:003321010.5BBS2, LEP
4melanosome transportGO:003240210.5BBS2, DCTN1
5negative regulation of multicellular organism growthGO:004001510.5ALMS1, BBS2
6negative regulation of appetite by leptin-mediated signaling pathwayGO:003810810.5BBS2, LEP
7Golgi to plasma membrane protein transportGO:004300110.4BBS1, BBS2
8positive regulation of insulin receptor signaling pathwayGO:004662810.2INS, LEP
9glucose homeostasisGO:004259310.2ALMS1, INS, LEP
10non-motile cilium assemblyGO:190551510.1BBS1, BBS2, DCTN1
11placenta developmentGO:000189010.1DLX3, LEP, NODAL
12regulation of fat cell differentiationGO:004559810.1ALMS1, LEP
13glucose metabolic processGO:000600610.0INS, KCNJ11, LEP
14cilium assemblyGO:00602719.9ALMS1, BBS1, BBS2, RPGR
15positive regulation of mitotic nuclear divisionGO:00458409.5INS, TGFA

Molecular functions related to Alstrom Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1anion transmembrane transporter activityGO:000850910.4SLC4A4, SLC4A5
2inorganic anion exchanger activityGO:000545210.1SLC4A4, SLC4A5
3sodium:bicarbonate symporter activityGO:000851010.0SLC4A4, SLC4A5

Sources for Alstrom Syndrome

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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet