MCID: ALS001
MIFTS: 51

Alstrom Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Alstrom Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 68Wikipedia, 51Orphanet, 35MedlinePlus, 22GeneTests, 24GTR, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Alstrom Syndrome:

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


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

OMIM49 203800
Disease Ontology10 DOID:0050473
MeSH36 D056769
Orphanet51 64
MESH via Orphanet37 D056769
UMLS via Orphanet66 C0268425
MedGen34 C0268425

Summaries for Alstrom Syndrome

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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 obesity and acute liver failure, and has symptoms including sensorineural hearing impairment, chorioretinal abnormality and truncal obesity. An important gene associated with Alstrom Syndrome is ALMS1 (Alstrom Syndrome Protein 1). Affiliated tissues include kidney, eye and heart, and related mouse phenotypes are endocrine/exocrine gland and vision/eye.

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.

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.

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

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

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.

Wikipedia:68 Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the... more...

GeneReviews summary for alstrom

Related Diseases for Alstrom Syndrome

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Graphical network of 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:

 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 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/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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical 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 Syndrome22 24 ALMS1

Anatomical Context for Alstrom Syndrome

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MalaCards organs/tissues related to Alstrom Syndrome:

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

Animal Models for Alstrom Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Alstrom Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.2ALMS1, DLX3, KCNJ11, LEP, SLC4A5, TGFA
2MP:00053918.2ALMS1, LEP, NODAL, RPGR, SLC4A4, TGFA
3MP:00053808.1DCTN1, DLX3, LBX2, LEP, NODAL, RTL1
4MP:00053857.7DLX3, KCNJ11, LEP, NODAL, SLC4A4, SLC4A5
5MP:00053787.2ALMS1, DLX3, KCNJ11, LEP, NODAL, RTL1
6MP:00036316.6DCTN1, KCNJ11, LBX2, LEP, NODAL, RPGR

Publications for Alstrom Syndrome

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Articles related to Alstrom Syndrome:

(show all 25)
idTitleAuthorsYear
1
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. (25864795)
2015
2
Differential effects on I^-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. (26494903)
2015
3
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. (24503146)
2014
4
Presentation and course of diabetes in children and adolescents with Alstrom syndrome. (21518413)
2011
5
Alstrom syndrome: A rare genetic disorder and its anaesthetic significance. (20661355)
2010
6
Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype. (20108498)
2009
7
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879439)
2007
8
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879432)
2007
9
Alstrom syndrome (OMIM 203800): a case report and literature review. (18154657)
2007
10
Alstrom syndrome in four sibs from northern Jordan. (17146208)
2006
11
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
12
Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. (16669965)
2006
13
Alstrom syndrome. (12038666)
2002
14
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. (11941369)
2002
15
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. (11941370)
2002
16
Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. (11386758)
2001
17
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. (11343329)
2001
18
Alstrom syndrome in two siblings. (11265260)
2001
19
Alstrom syndrome: a case report. (11732744)
2001
20
Alstrom syndrome with hepatic dysfunction: report of one case. (11100527)
2000
21
Acute lymphoblastic leukemia in one of two siblings with Alstrom syndrome. (11061078)
2000
22
Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs. (10882760)
2000
23
TGFA: exon-intron structure and evaluation as a candidate gene for Alstrom syndrome. (10066034)
1999
24
Human DCTN1: genomic structure and evaluation as a candidate for Alstrom syndrome. (9799602)
1998
25
Alstrom syndrome. (1800358)
1991

Variations for Alstrom Syndrome

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Clinvar genetic disease variations for Alstrom Syndrome:

5 (show all 12)
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
5ALMS1ALMS1, 333-BP ALU INS, EX16insertionPathogenic
6ALMS1ALMS1, 19-BP INSinsertionPathogenic
7ALMS1NM_015120.4(ALMS1): c.8383C> T (p.Gln2795Ter)single nucleotide variantPathogenicrs193919338GRCh37Chr 2, 73717466: 73717466
8ALMS1NM_015120.4(ALMS1): c.10775delC (p.Thr3592Lysfs)deletionPathogenicrs387906312GRCh37Chr 2, 73799776: 73799776
9ALMS1NM_015120.4(ALMS1): c.2141_2142delCT (p.Ser714Tyrfs)deletionPathogenicrs387906313GRCh37Chr 2, 73675792: 73675793
10ALMS1NM_015120.4(ALMS1): c.10992G> A (p.Trp3664Ter)single nucleotide variantPathogenicrs193919339GRCh37Chr 2, 73799993: 73799993
11ALMS1NM_015120.4(ALMS1): c.10945G> T (p.Glu3649Ter)single nucleotide variantPathogenicrs397514576GRCh37Chr 2, 73799946: 73799946
12ALMS1NM_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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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
1centrosomeGO:00058139.2ALMS1, ALMS1P, DCTN1, RPGR

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

idNameGO IDScoreTop Affiliating Genes
1regulation of intracellular pHGO:005145310.1SLC4A4, SLC4A5
2anion transportGO:000682010.1SLC4A4, SLC4A5
3bicarbonate transportGO:00157019.8SLC4A4, SLC4A5
4placenta developmentGO:00018909.3DLX3, LEP, NODAL

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

idNameGO IDScoreTop Affiliating Genes
1anion transmembrane transporter activityGO:000850910.3SLC4A4, SLC4A5
2sodium:bicarbonate symporter activityGO:000851010.3SLC4A4, SLC4A5
3inorganic anion exchanger activityGO:000545210.2SLC4A4, SLC4A5
4growth factor activityGO:00080839.1LEP, NODAL, TGFA

Sources for Alstrom Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet