MCID: ALS001
MIFTS: 55

Alstrom Syndrome

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

Aliases & Classifications for Alstrom Syndrome

MalaCards integrated aliases for Alstrom Syndrome:

Name: Alstrom Syndrome 54 12 23 50 24 25 71 29 13 52 42 14 69 72 23 50 25 56
Alms 50 25 71
Alstrom-Hallgren Syndrome 25
Alstrom's Syndrome 50
Alstroem Syndrome 71
Alss 50

Characteristics:

Orphanet epidemiological data:

56
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;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
alstrom syndrome:
Mortality/Aging death in early adulthood
Inheritance autosomal recessive inheritance


GeneReviews:

23
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]...

Classifications:



Summaries for Alstrom Syndrome

NIH Rare Diseases : 50 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 alms, is related to bardet-biedl syndrome 16 and lipodystrophy, familial partial, type 2, and has symptoms including progressive visual loss, short stature and nystagmus. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1, Centrosome And Basal Body Associated Protein). The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are cardiovascular system and growth/size/body region

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age (summary by Collin et al., 2002; Marshall et al., 2007). (203800)

Disease Ontology : 12 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.

Wikipedia : 72 Alström syndrome, also called Alstrom-Halgren syndrome, is a rare genetic disorder caused by mutations... more...

GeneReviews: NBK1267

Related Diseases for Alstrom Syndrome

Diseases related to Alstrom Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
id Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 16 10.6 ALMS1 BBS1
2 lipodystrophy, familial partial, type 2 10.4 INS LEP
3 myh-9 related disease 10.4 INS LEP
4 otof-related deafness 10.3 BBS1 BBS2
5 joubert syndrome 10 10.3 PKDREJ RPGR
6 epileptic encephalopathy, early infantile, 12 10.3 BBS1 BBS2
7 retinitis pigmentosa 51 10.2 BBS1 BBS2
8 mucinoses 10.2 ALMS1 INS LEP
9 celiac disease 6 10.2 BBS1 BBS2
10 hypomagnesemia 3, renal 10.2 INS LEP
11 deafness, autosomal recessive 84a 10.2 BBS1 BBS2
12 corneal dystrophy, congenital stromal 10.2 BBS1 BBS2
13 ataxia-telangiectasia-like disorder 2 10.2 BBS1 BBS2
14 fetal parvovirus syndrome 10.1 INS LEP
15 retinitis pigmentosa 55 10.1 BBS1 BBS2
16 retinitis pigmentosa 74 10.1 ALMS1 BBS1 BBS2
17 joubert syndrome 28 10.1 ALMS1 BBS1 BBS2
18 cardiomyopathy, dilated, 1dd 10.0 BBS1 BBS2 VPS13B
19 lissencephaly 10.0 INS LEP
20 obesity 10.0
21 macrocephaly, dysmorphic facies, and psychomotor retardation 10.0 BBS1 BBS2
22 labyrinthine unilateral reactive loss 9.8 INS KCNJ11
23 hyperlipoproteinemia type iv 9.8 INS LEP
24 acute insulin response 9.7 INS KCNJ11
25 hodgkin lymphoma 9.7
26 acute liver failure 9.7
27 hepatitis 9.7
28 leukemia 9.7
29 liver disease 9.7
30 lymphoma 9.7
31 lymphoblastic leukemia 9.7
32 bardet-biedl syndrome 9.7
33 neurogenic arthropathy 9.7 INS KCNJ11 LEP
34 chondroma 9.6 INS KCNJ11 LEP
35 hypertrichosis 9.6 INS KCNJ11 LEP
36 survival motor neuron spinal muscular atrophy 9.6 INS KCNJ11 LEP
37 morning glory syndrome 9.6 INS KCNJ11
38 antidepressant type abuse 9.6 INS KCNJ11 LEP
39 impetigo 9.6 BBS1 BBS2 RPGR VPS13B
40 exostosis 9.6 INS KCNJ11 LEP
41 peroneal neuropathy 9.5 INS KCNJ11 LEP
42 von hippel-lindau syndrome 9.0 ALMS1 BBS1 BBS2 INS LEP VPS13B

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



Diseases related to Alstrom Syndrome

Symptoms & Phenotypes for Alstrom Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Laboratory- Abnormalities:
hypertriglyceridemia
hyperinsulinemia
hyperuricemia
low hdl-cholesterol
normal total cholesterol
more
Abdomen- Liver:
hepatomegaly
hepatic steatosis
hepatitis, chronic active

Genitourinary- Kidneys:
renal failure
nephritis, chronic
renal structural anomalies (reported in 1 family)
narrowing of the ureteropelvic junctions
deformities of the calyceal system

Cardiovascular- Vascular:
hypertension
atherosclerosis

Skeletal- Feet:
pes planus

Endocrine Features:
growth hormone deficiency
hypothyroidism
diabetes insipidus
menstrual irregularities
insulin resistant diabetes
more
Skeletal- Hands:
no polydactyly

Respiratory- Airways:
asthma
recurrent pulmonary infections

Skeletal:
advanced bone age

Skin Nails & Hair- Skin:
acanthosis nigricans

Skeletal- Spine:
scoliosis
kyphosis

Neurologic:
developmental delay

Head And Neck- Eyes:
pigmentary retinopathy
blindness
cone-rod dystrophy
photophobia (infancy)
nystagmus (infancy)
more
Skin Nails & Hair- Hair:
alopecia

Cardiovascular- Heart:
congestive heart failure
dilated cardiomyopathy (infancy)

Head And Neck- Ears:
otitis media
hearing loss, progressive sensorineural

Head And Neck- Teeth:
gingivitis
discolored enamel

Growth- Weight:
truncal obesity (onset in childhood)

Chest- Breasts:
gynecomastia

Skeletal- Skull:
hyperostosis frontalis interna


Clinical features from OMIM:

203800

Human phenotypes related to Alstrom Syndrome:

56 32 (show top 50) (show all 83)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive visual loss 56 32 frequent (33%) Frequent (79-30%) HP:0000529
2 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
4 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
5 hypertriglyceridemia 56 32 frequent (33%) Frequent (79-30%) HP:0002155
6 nephrocalcinosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000121
7 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
8 splenomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001744
9 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
10 round face 56 32 occasional (7.5%) Occasional (29-5%) HP:0000311
11 alopecia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001596
12 hyperinsulinemia 56 32 frequent (33%) Frequent (79-30%) HP:0000842
13 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
14 dilated cardiomyopathy 56 32 frequent (33%) Frequent (79-30%) HP:0001644
15 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
16 depression 56 32 occasional (7.5%) Occasional (29-5%) HP:0000716
17 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
18 blindness 56 32 frequent (33%) Frequent (79-30%) HP:0000618
19 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
20 photophobia 56 32 frequent (33%) Frequent (79-30%) HP:0000613
21 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
22 vesicoureteral reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0000076
23 cirrhosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001394
24 tubulointerstitial nephritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001970
25 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
26 hepatic steatosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001397
27 respiratory insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0002093
28 renovascular hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0100817
29 portal hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0001409
30 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
31 asthma 56 32 frequent (33%) Frequent (79-30%) HP:0002099
32 acanthosis nigricans 56 32 frequent (33%) Frequent (79-30%) HP:0000956
33 truncal obesity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001956
34 insulin resistance 56 32 frequent (33%) Frequent (79-30%) HP:0000855
35 obsessive-compulsive behavior 56 32 occasional (7.5%) Occasional (29-5%) HP:0000722
36 polycystic ovaries 56 32 occasional (7.5%) Occasional (29-5%) HP:0000147
37 pulmonary fibrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002206
38 precocious puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000826
39 chronic otitis media 56 32 frequent (33%) Frequent (79-30%) HP:0000389
40 decreased testicular size 56 32 occasional (7.5%) Occasional (29-5%) HP:0008734
41 generalized hirsutism 56 32 occasional (7.5%) Occasional (29-5%) HP:0002230
42 type ii diabetes mellitus 56 32 frequent (33%) Frequent (79-30%) HP:0005978
43 aplasia/hypoplasia of the cerebellum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007360
44 glomerulopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0100820
45 male hypogonadism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000026
46 deeply set eye 56 32 occasional (7.5%) Occasional (29-5%) HP:0000490
47 chorioretinal abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0000532
48 abnormality of the urethra 56 32 occasional (7.5%) Occasional (29-5%) HP:0000795
49 abnormality of female external genitalia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000055
50 chronic hepatic failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0100626

MGI Mouse Phenotypes related to Alstrom Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 BBS1 DLX3 INS KCNJ11 LEP NODAL
2 growth/size/body region MP:0005378 10.1 ALMS1 BBS1 BBS2 DLX3 INS KCNJ11
3 endocrine/exocrine gland MP:0005379 9.98 KCNJ11 LEP SLC4A5 ALMS1 BBS2 DLX3
4 nervous system MP:0003631 9.97 BBS2 INS KCNJ11 LEP NODAL RPGR
5 adipose tissue MP:0005375 9.95 ALMS1 BBS1 BBS2 INS KCNJ11 LEP
6 muscle MP:0005369 9.85 INS KCNJ11 LEP NODAL RPGR SLC4A4
7 renal/urinary system MP:0005367 9.8 SLC4A4 SLC4A5 ALMS1 BBS1 BBS2 INS
8 reproductive system MP:0005389 9.7 ALMS1 BBS1 BBS2 INS LEP NODAL
9 vision/eye MP:0005391 9.23 ALMS1 BBS1 BBS2 INS LEP NODAL
10 taste/olfaction MP:0005394 9.13 BBS1 BBS2 NODAL

Drugs & Therapeutics for Alstrom Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
2 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Not yet recruiting NCT03184584 Phase 2, Phase 3 PBI-4050
3 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Recruiting NCT02739217 Phase 2 PBI-4050
4 Clinical Study of a Single Ciliopathy: Alström Syndrome Recruiting NCT02890550
5 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224

Search NIH Clinical Center for Alstrom Syndrome

Cochrane evidence based reviews: alstrom syndrome

Genetic Tests for Alstrom Syndrome

Genetic tests related to Alstrom Syndrome:

id Genetic test Affiliating Genes
1 Alstrom Syndrome 29 24 ALMS1

Anatomical Context for Alstrom Syndrome

MalaCards organs/tissues related to Alstrom Syndrome:

39
Kidney, Liver, Heart, Eye, Bone, Ovary, Cerebellum

Publications for Alstrom Syndrome

Articles related to Alstrom Syndrome:

(show all 29)
id Title Authors Year
1
Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. ( 28135309 )
2017
2
Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness. ( 27605748 )
2016
3
Differential effects on I^-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. ( 26494903 )
2015
4
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. ( 25864795 )
2015
5
High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease. ( 26603037 )
2015
6
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. ( 24503146 )
2014
7
Presentation and course of diabetes in children and adolescents with Alstrom syndrome. ( 21518413 )
2011
8
Alstrom syndrome: A rare genetic disorder and its anaesthetic significance. ( 20661355 )
2010
9
Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype. ( 20108498 )
2009
10
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. ( 17879439 )
2007
11
Alstrom syndrome (OMIM 203800): a case report and literature review. ( 18154657 )
2007
12
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. ( 17879432 )
2007
13
Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. ( 16669965 )
2006
14
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
15
Alstrom syndrome in four sibs from northern Jordan. ( 17146208 )
2006
16
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. ( 11941370 )
2002
17
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. ( 11941369 )
2002
18
Alstrom syndrome. ( 12038666 )
2002
19
Alstrom syndrome in two siblings. ( 11265260 )
2001
20
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. ( 11343329 )
2001
21
Alstrom syndrome: a case report. ( 11732744 )
2001
22
Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. ( 11386758 )
2001
23
Acute lymphoblastic leukemia in one of two siblings with Alstrom syndrome. ( 11061078 )
2000
24
Alstrom syndrome with hepatic dysfunction: report of one case. ( 11100527 )
2000
25
Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs. ( 10882760 )
2000
26
TGFA: exon-intron structure and evaluation as a candidate gene for Alstrom syndrome. ( 10066034 )
1999
27
Human DCTN1: genomic structure and evaluation as a candidate for Alstrom syndrome. ( 9799602 )
1998
28
The Alstrom syndrome: a new variant? ( 8181924 )
1994
29
Alstrom syndrome. ( 1800358 )
1991

Variations for Alstrom Syndrome

ClinVar genetic disease variations for Alstrom Syndrome:

6 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1 ALMS1 ALMS1, 19-BP INS insertion Pathogenic
2 ALMS1 NM_015120.4(ALMS1): c.8383C> T (p.Gln2795Ter) single nucleotide variant Pathogenic rs193919338 GRCh37 Chromosome 2, 73717466: 73717466
3 ALMS1 NM_015120.4(ALMS1): c.10775delC (p.Thr3592Lysfs) deletion Pathogenic rs387906312 GRCh37 Chromosome 2, 73799776: 73799776
4 ALMS1 NM_015120.4(ALMS1): c.2141_2142delCT (p.Ser714Tyrfs) deletion Pathogenic rs387906313 GRCh37 Chromosome 2, 73675792: 73675793
5 ALMS1 NM_015120.4(ALMS1): c.10992G> A (p.Trp3664Ter) single nucleotide variant Pathogenic rs193919339 GRCh37 Chromosome 2, 73799993: 73799993
6 ALMS1 NM_015120.4(ALMS1): c.8164C> T (p.Arg2722Ter) single nucleotide variant Pathogenic rs193919340 GRCh37 Chromosome 2, 73717247: 73717247
7 ALMS1 ALMS1, 333-BP ALU INS, EX16 insertion Pathogenic
8 ALMS1 NM_015120.4(ALMS1): c.10945G> T (p.Glu3649Ter) single nucleotide variant Pathogenic rs397514576 GRCh37 Chromosome 2, 73799946: 73799946
9 ALMS1 NM_015120.4(ALMS1): c.1794_1801dupGGCTTTGA (p.Lys601Argfs) duplication Pathogenic rs398122991 GRCh37 Chromosome 2, 73675445: 73675452
10 ALMS1 NM_015120.4(ALMS1): c.11116_11134del19 (p.Arg3706Leufs) deletion Pathogenic rs398122992 GRCh37 Chromosome 2, 73800117: 73800135
11 ALMS1 NM_015120.4(ALMS1): c.4296_4299delCACA (p.His1432Glnfs) deletion Pathogenic rs398122993 GRCh37 Chromosome 2, 73677947: 73677950
12 ALMS1 NM_015120.4(ALMS1): c.5926delG (p.Glu1976Serfs) deletion Pathogenic rs398122994 GRCh37 Chromosome 2, 73679577: 73679577
13 ALMS1 NM_015120.4(ALMS1): c.1900C> T (p.Gln634Ter) single nucleotide variant Pathogenic rs398122995 GRCh37 Chromosome 2, 73675551: 73675551
14 ALMS1 NM_015120.4(ALMS1): c.4156dupA (p.Thr1386Asnfs) duplication Pathogenic rs797045228 GRCh38 Chromosome 2, 73450680: 73450680
15 ALMS1 NM_015120.4(ALMS1): c.6436C> T (p.Arg2146Ter) single nucleotide variant Pathogenic rs770558150 GRCh37 Chromosome 2, 73680087: 73680087
16 ALMS1 NM_015120.4(ALMS1): c.10483C> T (p.Gln3495Ter) single nucleotide variant Pathogenic rs772624348 GRCh38 Chromosome 2, 73572357: 73572357
17 ALMS1 NM_015120.4(ALMS1): c.5145T> G (p.Tyr1715Ter) single nucleotide variant Pathogenic/Likely pathogenic rs772136379 GRCh38 Chromosome 2, 73451669: 73451669
18 ALMS1 NM_015120.4(ALMS1): c.2822T> A (p.Leu941Ter) single nucleotide variant Pathogenic rs539612316 GRCh38 Chromosome 2, 73449346: 73449346
19 ALMS1 NM_015120.4(ALMS1): c.3784G> T (p.Glu1262Ter) single nucleotide variant Likely pathogenic rs1085307054 GRCh37 Chromosome 2, 73677435: 73677435
20 ALMS1 NM_015120.4(ALMS1): c.3019dupA (p.Arg1007Lysfs) duplication Pathogenic rs878854998 GRCh38 Chromosome 2, 73449543: 73449543
21 ALMS1 NM_015120.4(ALMS1): c.9433dupA (p.Thr3145Asnfs) duplication Pathogenic rs878855003 GRCh37 Chromosome 2, 73718516: 73718516
22 ALMS1 NM_015120.4(ALMS1): c.5625delA (p.Ala1876Glnfs) deletion Likely pathogenic rs1057517445 GRCh37 Chromosome 2, 73679276: 73679276
23 ALMS1 NM_015120.4(ALMS1): c.7247C> A (p.Ser2416Ter) single nucleotide variant Pathogenic rs1060500039 GRCh38 Chromosome 2, 73453771: 73453771
24 ALMS1 NM_015120.4(ALMS1): c.10303delCinsGA (p.Gln3435Glufs) indel Pathogenic rs1060500034 GRCh38 Chromosome 2, 73559058: 73559058
25 ALMS1 NM_015120.4(ALMS1): c.363_366dupAGTA (p.Tyr123Serfs) duplication Pathogenic GRCh38 Chromosome 2, 73408657: 73408660
26 ALMS1 NM_015120.4(ALMS1): c.5590C> T (p.Gln1864Ter) single nucleotide variant Pathogenic rs769440001 GRCh38 Chromosome 2, 73452114: 73452114
27 ALMS1 NM_015120.4(ALMS1): c.6571_6574delTCAC (p.Ser2191Metfs) deletion Pathogenic GRCh38 Chromosome 2, 73453095: 73453098
28 ALMS1 NM_015120.4(ALMS1): c.10885C> T (p.Arg3629Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 73799886: 73799886
29 ALMS1 NM_015120.4(ALMS1): c.3300_3301delAA (p.Lys1103Alafs) deletion Pathogenic GRCh38 Chromosome 2, 73449824: 73449825
30 ALMS1 NM_015120.4(ALMS1): c.9116delC (p.Pro3039Leufs) deletion Pathogenic GRCh38 Chromosome 2, 73491072: 73491072

Expression for Alstrom Syndrome

Search GEO for disease gene expression data for Alstrom Syndrome.

Pathways for Alstrom Syndrome

GO Terms for Alstrom Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.46 ALMS1 BBS1 BBS2 RPGR
2 BBSome GO:0034464 8.96 BBS1 BBS2
3 ciliary basal body GO:0036064 8.92 ALMS1 BBS1 BBS2 RPGR

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.7 BBS1 BBS2 RPGR
2 glucose homeostasis GO:0042593 9.61 ALMS1 INS LEP
3 Golgi to plasma membrane protein transport GO:0043001 9.51 BBS1 BBS2
4 inorganic anion transport GO:0015698 9.49 SLC4A4 SLC4A5
5 anion transport GO:0006820 9.48 SLC4A4 SLC4A5
6 regulation of fat cell differentiation GO:0045598 9.46 ALMS1 LEP
7 cilium assembly GO:0060271 9.46 ALMS1 BBS1 BBS2 RPGR
8 glucose metabolic process GO:0006006 9.43 INS KCNJ11 LEP
9 negative regulation of multicellular organism growth GO:0040015 9.4 ALMS1 BBS2
10 positive regulation of insulin receptor signaling pathway GO:0046628 9.37 INS LEP
11 leptin-mediated signaling pathway GO:0033210 9.32 BBS2 LEP
12 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 8.96 BBS2 LEP
13 placenta development GO:0001890 8.8 DLX3 LEP NODAL

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 9.26 BBS1 BBS2
2 inorganic anion exchanger activity GO:0005452 9.16 SLC4A4 SLC4A5
3 anion transmembrane transporter activity GO:0008509 8.96 SLC4A4 SLC4A5
4 sodium:bicarbonate symporter activity GO:0008510 8.62 SLC4A4 SLC4A5

Sources for Alstrom Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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