Alstrom Syndrome malady

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

Aliases & Classifications for Alstrom Syndrome

About this section

Aliases & Descriptions for Alstrom Syndrome:

Name: Alstrom Syndrome 49 10 11 21 45 22 23 47 12 67 36 65
Alström Syndrome 68 21 45 23 51
Alms 45 23 67
Vision Impairment and Blindness 68 35
Alstrom's Syndrome 45 24
Alstrom-Hallgren Syndrome 23
Alstroem Syndrome 67
Alss 45


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:

OMIM49 203800
Disease Ontology10 DOID:0050473
MeSH36 D056769
NCIt42 C84549
SNOMED-CT59 63702009
Orphanet51 64
UMLS via Orphanet66 C0268425
MESH via Orphanet37 D056769
MedGen34 C0268425
UMLS65 C0268425

Summaries for Alstrom Syndrome

About this section
MedlinePlus:35 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 tenosynovial giant cell tumor and chromosome 16p13.3 duplication syndrome, and has symptoms including short stature, truncal obesity and chorioretinal abnormality. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1, Centrosome And Basal Body Associated Protein). Affiliated tissues include kidney, eye and heart, and related mouse phenotypes are renal/urinary system and adipose tissue.

Disease Ontology:10 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.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 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.

Genetics Home Reference:23 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:49 Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to... (203800) more...

Wikipedia:68 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

About this section

Graphical network of diseases related to Alstrom Syndrome:

Diseases related to alstrom syndrome

Symptoms for Alstrom Syndrome

About this section

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



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

UMLS symptoms related to Alstrom Syndrome:


Drugs & Therapeutics for Alstrom Syndrome

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts3572

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström SyndromeRecruitingNCT02739217Phase 2
2Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224

Search NIH Clinical Center for Alstrom Syndrome

Cochrane evidence based reviews: alstrom syndrome

Genetic Tests for Alstrom Syndrome

About this section

Genetic tests related to Alstrom Syndrome:

id Genetic test Affiliating Genes
1 Alstrom Syndrome22 ALMS1

Anatomical Context for Alstrom Syndrome

About this section

MalaCards organs/tissues related to Alstrom Syndrome:

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

Animal Models for Alstrom Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Alstrom Syndrome:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1ALMS1, BBS1, BBS2, LEP, SLC4A4, SLC4A5
2MP:00053758.6ALMS1, BBS1, BBS2, KCNJ11, LEP, TGFA
3MP:00053798.5ALMS1, BBS2, DLX3, KCNJ11, LEP, SLC4A5
4MP:00053918.0ALMS1, BBS1, BBS2, LEP, NODAL, RPGR
5MP:00053857.8BBS1, DLX3, KCNJ11, LEP, NODAL, SLC4A4
6MP:00053787.1ALMS1, BBS1, BBS2, DLX3, KCNJ11, LEP
7MP:00053767.0ALMS1, BBS1, BBS2, DCTN1, KCNJ11, LBX2
8MP:00036316.9BBS1, BBS2, DCTN1, KCNJ11, LBX2, LEP

Publications for Alstrom Syndrome

About this section

Articles related to Alstrom Syndrome:

(show all 27)
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. (25864795)
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)
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)
Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. (11386758)
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. (11343329)
Alstrom syndrome in two siblings. (11265260)
Alstrom syndrome: a case report. (11732744)
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

About this section

Clinvar genetic disease variations for Alstrom Syndrome:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1ALMS1NM_015120.4(ALMS1): c.10483C> T (p.Gln3495Ter)single nucleotide variantPathogenicrs772624348GRCh38Chr 2, 73572357: 73572357
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
6ALMS1ALMS1, 333-BP ALU INS, EX16insertionPathogenic
7ALMS1ALMS1, 19-BP INSinsertionPathogenic
8ALMS1NM_015120.4(ALMS1): c.8383C> T (p.Gln2795Ter)single nucleotide variantPathogenicrs193919338GRCh37Chr 2, 73717466: 73717466
9ALMS1NM_015120.4(ALMS1): c.10775delC (p.Thr3592Lysfs)deletionPathogenicrs387906312GRCh37Chr 2, 73799776: 73799776
10ALMS1NM_015120.4(ALMS1): c.2141_2142delCT (p.Ser714Tyrfs)deletionPathogenicrs387906313GRCh37Chr 2, 73675792: 73675793
11ALMS1NM_015120.4(ALMS1): c.10992G> A (p.Trp3664Ter)single nucleotide variantPathogenicrs193919339GRCh37Chr 2, 73799993: 73799993
12ALMS1NM_015120.4(ALMS1): c.10945G> T (p.Glu3649Ter)single nucleotide variantPathogenicrs397514576GRCh37Chr 2, 73799946: 73799946
13ALMS1NM_015120.4(ALMS1): c.8164C> T (p.Arg2722Ter)single nucleotide variantPathogenicrs193919340GRCh37Chr 2, 73717247: 73717247
14ALMS1NM_015120.4(ALMS1): c.1794_1801dupGGCTTTGA (p.Lys601Argfs)duplicationPathogenicrs398122991GRCh37Chr 2, 73675445: 73675452
15ALMS1NM_015120.4(ALMS1): c.11116_11134del19 (p.Arg3706Leufs)deletionPathogenicrs398122992GRCh37Chr 2, 73800117: 73800135
16ALMS1NM_015120.4(ALMS1): c.4296_4299delCACA (p.His1432Glnfs)deletionPathogenicrs398122993GRCh37Chr 2, 73677947: 73677950
17ALMS1NM_015120.4(ALMS1): c.5926delG (p.Glu1976Serfs)deletionPathogenicrs398122994GRCh37Chr 2, 73679577: 73679577
18ALMS1NM_015120.4(ALMS1): c.1900C> T (p.Gln634Ter)single nucleotide variantPathogenicrs398122995GRCh37Chr 2, 73675551: 73675551

Expression for genes affiliated with Alstrom Syndrome

About this section
Search GEO for disease gene expression data for Alstrom Syndrome.

Pathways for genes affiliated with Alstrom Syndrome

About this section

GO Terms for genes affiliated with Alstrom Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1spindle poleGO:000092210.0ALMS1, DCTN1

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

idNameGO IDScoreTop Affiliating Genes
1anion transmembrane transportGO:009865610.1SLC4A4, SLC4A5
2negative regulation of multicellular organism growthGO:004001510.0ALMS1, BBS2
3Golgi to plasma membrane protein transportGO:004300110.0BBS1, BBS2
4regulation of intracellular pHGO:005145310.0SLC4A4, SLC4A5
5placenta developmentGO:00018909.9LEP, NODAL
6bicarbonate transportGO:00157019.7SLC4A4, SLC4A5

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

idNameGO IDScoreTop Affiliating Genes
1sodium:bicarbonate symporter activityGO:000851010.0SLC4A4, SLC4A5

Sources for Alstrom Syndrome

About this section
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet