Alstrom Syndrome 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 50 11 22 46 23 24 13 68 12 48 37 66
Alström Syndrome 69 22 46 24 52
Alms 46 24 68
Alstrom's Syndrome 46 25
Alstrom-Hallgren Syndrome 24
Alstroem Syndrome 68
Alss 46


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


External Ids:

OMIM50 203800
Disease Ontology11 DOID:0050473
MeSH37 D056769
NCIt43 C84549
SNOMED-CT60 63702009
Orphanet52 ORPHA64
UMLS via Orphanet67 C0268425
MESH via Orphanet38 D056769
MedGen35 C0268425

Summaries for Alstrom Syndrome

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NIH Rare Diseases:46 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 obesity and lipodystrophy, familial partial, 2, and has symptoms including sensorineural hearing impairment, chorioretinal abnormality and truncal obesity. 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 renal/urinary system and digestive/alimentary.

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.

Genetics Home Reference:24 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.

OMIM:50 Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to... (203800) more...

UniProtKB/Swiss-Prot:68 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:69 Alström syndrome, also called Alstrom-Halgren Syndrome, is a rare genetic disorder caused by mutations... more...

GeneReviews summary 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 for Alstrom Syndrome

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 52 (show all 55)
  • male hypogonadism
  • abnormality of female external genitalia
  • vesicoureteral reflux
  • renal insufficiency
  • nephrocalcinosis
  • polycystic ovaries
  • round face
  • chronic otitis media
  • progressive sensorineural hearing impairment
  • deeply set eye
  • cataract
  • progressive visual loss
  • chorioretinal abnormality
  • cone-rod dystrophy
  • photophobia
  • blindness
  • nystagmus
  • depression
  • autism
  • obsessive-compulsive behavior
  • abnormality of the urethra
  • hypothyroidism
  • precocious puberty
  • hyperinsulinemia
  • insulin resistance
  • acanthosis nigricans
  • intellectual disability
  • seizures
  • global developmental delay
  • cirrhosis
  • hepatic steatosis
  • portal hypertension
  • alopecia
  • congestive heart failure
  • dilated cardiomyopathy
  • splenomegaly
  • truncal obesity
  • tubulointerstitial nephritis
  • pulmonary hypertension
  • respiratory insufficiency
  • asthma
  • hypertriglyceridemia
  • recurrent respiratory infections
  • pulmonary fibrosis
  • generalized hirsutism
  • hepatomegaly
  • short stature
  • type ii diabetes mellitus
  • aplasia/hypoplasia of the cerebellum
  • decreased testicular size
  • abnormality of adipose tissue
  • death in early adulthood
  • chronic hepatic failure
  • renovascular hypertension
  • glomerulopathy

HPO human phenotypes related to Alstrom Syndrome:

(show all 96)
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 renal insufficiency HP:0000083
52 nephritis HP:0000123
53 abnormality of the teeth HP:0000164
54 gingivitis HP:0000230
55 otitis media HP:0000388
56 progressive sensorineural hearing impairment HP:0000408
57 subcapsular cataract HP:0000523
58 cone/cone-rod dystrophy HP:0000548
59 pigmentary retinopathy HP:0000580
60 photophobia HP:0000613
61 blindness HP:0000618
62 nystagmus HP:0000639
63 gynecomastia HP:0000771
64 hypergonadotropic hypogonadism HP:0000815
65 hypothyroidism HP:0000821
66 hypertension HP:0000822
67 growth hormone deficiency HP:0000824
68 insulin-resistant diabetes mellitus HP:0000831
69 hyperinsulinemia HP:0000842
70 menstrual irregularities HP:0000858
71 diabetes insipidus HP:0000873
72 acanthosis nigricans HP:0000956
73 abnormality of the hand HP:0001155
74 global developmental delay HP:0001263
75 hepatic steatosis HP:0001397
76 alopecia HP:0001596
77 congestive heart failure HP:0001635
78 dilated cardiomyopathy HP:0001644
79 pes planus HP:0001763
80 truncal obesity HP:0001956
81 tubulointerstitial nephritis HP:0001970
82 asthma HP:0002099
83 hyperuricemia HP:0002149
84 hypertriglyceridemia HP:0002155
85 hepatomegaly HP:0002240
86 atherosclerosis HP:0002621
87 scoliosis HP:0002650
88 kyphosis HP:0002808
89 elevated hepatic transaminases HP:0002910
90 hypoalphalipoproteinemia HP:0003233
91 short stature HP:0004322
92 hyperostosis frontalis interna HP:0004438
93 accelerated skeletal maturation HP:0005616
94 multinodular goiter HP:0005987
95 recurrent pneumonia HP:0006532
96 chronic active hepatitis HP:0200120

UMLS symptoms related to Alstrom Syndrome:


Drugs & Therapeutics for Alstrom Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström SyndromeRecruitingNCT02739217Phase 2
2Clinical Study of a Single Ciliopathy: Alström SyndromeRecruitingNCT02890550
3Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224

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 Syndrome25 23 ALMS1

Anatomical Context for Alstrom Syndrome

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MalaCards organs/tissues related to Alstrom Syndrome:

Kidney, Heart, Liver, Eye, Testis, Ovary, Cerebellum

Animal Models for Alstrom Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Alstrom Syndrome:

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3ALMS1, BBS1, BBS2, INS, LEP, SLC4A4
2MP:00053818.3BBS2, INS, LEP, NODAL, SLC4A4, TGFA
3MP:00107718.1BBS2, DLX3, INS, KCNJ11, LEP, SLC4A4
4MP:00053758.0ALMS1, BBS1, BBS2, INS, KCNJ11, LEP
5MP:00053808.0DCTN1, DLX3, INS, LBX2, LEP, NODAL
6MP:00053797.7ALMS1, BBS2, DLX3, INS, KCNJ11, LEP
7MP:00053917.2ALMS1, BBS1, BBS2, INS, LEP, NODAL
8MP:00053857.2BBS1, DLX3, INS, KCNJ11, LEP, NODAL
9MP:00053786.5ALMS1, BBS1, BBS2, DLX3, INS, KCNJ11
10MP:00053766.3ALMS1, BBS1, BBS2, DCTN1, INS, KCNJ11
11MP:00036316.2BBS1, BBS2, DCTN1, INS, KCNJ11, LBX2

Publications for Alstrom Syndrome

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Articles related to Alstrom Syndrome:

(show all 28)
Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness. (27605748)
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. (25864795)
High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease. (26603037)
Differential effects on I^-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. (26494903)
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. (17879439)
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879432)
Alstrom syndrome (OMIM 203800): a case report and literature review. (18154657)
Alstrom syndrome in four sibs from northern Jordan. (17146208)
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. (16720663)
Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. (16669965)
Alstrom syndrome. (12038666)
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. (11941369)
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. (11941370)
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. (11343329)
Alstrom syndrome: a case report. (11732744)
Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. (11386758)
Alstrom syndrome in two siblings. (11265260)
Alstrom syndrome with hepatic dysfunction: report of one case. (11100527)
Acute lymphoblastic leukemia in one of two siblings with Alstrom syndrome. (11061078)
Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs. (10882760)
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 20)
id Gene Variation Type Significance SNP ID Assembly Location
1ALMS1NM_015120.4(ALMS1): c.10483C> T (p.Gln3495Ter)single nucleotide variantPathogenicrs772624348GRCh37Chr 2, 73799484: 73799484
2ALMS1NM_015120.4(ALMS1): c.4156dupA (p.Thr1386Asnfs)duplicationPathogenicrs797045228GRCh37Chr 2, 73677807: 73677807
3ALMS1NM_015120.4(ALMS1): c.6436C> T (p.Arg2146Ter)single nucleotide variantPathogenicrs770558150GRCh37Chr 2, 73680087: 73680087
4ALMS1NM_015120.4(ALMS1): c.5145T> G (p.Tyr1715Ter)single nucleotide variantLikely pathogenicrs772136379GRCh37Chr 2, 73678796: 73678796
5ALMS1NM_015120.4(ALMS1): c.2822T> A (p.Leu941Ter)single nucleotide variantPathogenicrs539612316GRCh38Chr 2, 73449346: 73449346
6ALMS1NM_015120.4(ALMS1): c.3019dupA (p.Arg1007Lysfs)duplicationPathogenicrs878854998GRCh38Chr 2, 73449543: 73449543
7ALMS1NM_015120.4(ALMS1): c.9433dupA (p.Thr3145Asnfs)duplicationPathogenicrs878855003GRCh37Chr 2, 73718516: 73718516
8ALMS1ALMS1, 333-BP ALU INS, EX16insertionPathogenic
9ALMS1ALMS1, 19-BP INSinsertionPathogenic
10ALMS1NM_015120.4(ALMS1): c.8383C> T (p.Gln2795Ter)single nucleotide variantPathogenicrs193919338GRCh37Chr 2, 73717466: 73717466
11ALMS1NM_015120.4(ALMS1): c.10775delC (p.Thr3592Lysfs)deletionPathogenicrs387906312GRCh37Chr 2, 73799776: 73799776
12ALMS1NM_015120.4(ALMS1): c.2141_2142delCT (p.Ser714Tyrfs)deletionPathogenicrs387906313GRCh37Chr 2, 73675792: 73675793
13ALMS1NM_015120.4(ALMS1): c.10992G> A (p.Trp3664Ter)single nucleotide variantPathogenicrs193919339GRCh37Chr 2, 73799993: 73799993
14ALMS1NM_015120.4(ALMS1): c.10945G> T (p.Glu3649Ter)single nucleotide variantPathogenicrs397514576GRCh37Chr 2, 73799946: 73799946
15ALMS1NM_015120.4(ALMS1): c.8164C> T (p.Arg2722Ter)single nucleotide variantPathogenicrs193919340GRCh37Chr 2, 73717247: 73717247
16ALMS1NM_015120.4(ALMS1): c.1794_1801dupGGCTTTGA (p.Lys601Argfs)duplicationPathogenicrs398122991GRCh37Chr 2, 73675445: 73675452
17ALMS1NM_015120.4(ALMS1): c.11116_11134del19 (p.Arg3706Leufs)deletionPathogenicrs398122992GRCh37Chr 2, 73800117: 73800135
18ALMS1NM_015120.4(ALMS1): c.4296_4299delCACA (p.His1432Glnfs)deletionPathogenicrs398122993GRCh37Chr 2, 73677947: 73677950
19ALMS1NM_015120.4(ALMS1): c.5926delG (p.Glu1976Serfs)deletionPathogenicrs398122994GRCh37Chr 2, 73679577: 73679577
20ALMS1NM_015120.4(ALMS1): c.1900C> T (p.Gln634Ter)single nucleotide variantPathogenicrs398122995GRCh37Chr 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:003446410.0BBS1, BBS2
2ciliary basal bodyGO:00360649.1ALMS1, BBS1, BBS2, RPGR

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1regulation of stress fiber assemblyGO:005149210.6ALMS1, ALMS1P1
2inorganic anion transportGO:001569810.5SLC4A4, SLC4A5
3negative regulation of multicellular organism growthGO:004001510.4ALMS1, BBS2
4negative regulation of appetite by leptin-mediated signaling pathwayGO:003810810.4BBS2, LEP
5leptin-mediated signaling pathwayGO:003321010.4BBS2, LEP
6Golgi to plasma membrane protein transportGO:004300110.3BBS1, BBS2
7positive regulation of insulin receptor signaling pathwayGO:004662810.2INS, LEP
8regulation of fat cell differentiationGO:004559810.2ALMS1, LEP
9melanosome transportGO:003240210.1BBS2, DCTN1
10nonmotile primary cilium assemblyGO:00350589.7BBS1, BBS2
11glucose homeostasisGO:00425939.7ALMS1, INS, LEP
12placenta developmentGO:00018909.4DLX3, LEP, NODAL
13ER to Golgi vesicle-mediated transportGO:00068889.3DCTN1, INS, TGFA
14positive regulation of mitotic nuclear divisionGO:00458409.3INS, TGFA
15glucose metabolic processGO:00060069.3INS, KCNJ11, LEP
16cilium assemblyGO:00423849.2ALMS1, BBS1, BBS2, RPGR

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

idNameGO IDScoreTop Affiliating Genes
1sodium:bicarbonate symporter activityGO:000851010.4SLC4A4, SLC4A5
2inorganic anion exchanger activityGO:000545210.4SLC4A4, SLC4A5
3RNA polymerase II repressing transcription factor bindingGO:00011039.7BBS1, BBS2
4growth factor activityGO:00080839.0LEP, NODAL, TGFA

Sources for Alstrom Syndrome

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29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet