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 53 12 23 49 24 71 36 28 13 51 41 14 69 72 23 49 24 55
Alms 53 49 24 71
Alstrom's Syndrome 72 49
Alss 53 49
Alstrom-Hallgren Syndrome 24
Alstroem Syndrome 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive


HPO:

31
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 : 49 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 10 and bardet-biedl syndrome 12, and has symptoms including seizures, photophobia and nystagmus. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1, Centrosome And Basal Body Associated Protein). The drugs alpha-MSH and Hormone Antagonists have 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

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.

OMIM : 53 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)

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.

GeneReviews: NBK1267

Related Diseases for Alstrom Syndrome

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 10 29.9 BBS1 BBS2
2 bardet-biedl syndrome 12 29.9 BBS1 BBS2
3 bardet-biedl syndrome 2 29.8 ALMS1 BBS1 BBS2
4 body mass index quantitative trait locus 11 28.9 BBS1 BBS2 INS LEP
5 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.0
6 bardet-biedl syndrome 16 10.4 ALMS1 BBS1
7 orofaciodigital syndrome i 10.3 PKDREJ RPGR
8 nonsyndromic retinitis pigmentosa 10.3 BBS1 BBS2
9 bardet-biedl syndrome 6 10.2 BBS1 BBS2
10 bardet-biedl syndrome 8 10.2 BBS1 BBS2
11 bardet-biedl syndrome 14 10.2 BBS1 BBS2
12 mckusick-kaufman syndrome 10.2 BBS1 BBS2
13 bardet-biedl syndrome 3 10.1 BBS1 BBS2
14 bardet-biedl syndrome 13 10.1 ALMS1 BBS1 BBS2
15 bardet-biedl syndrome 1 10.1 BBS1 BBS2 LEP
16 bardet-biedl syndrome 18 10.1 BBS1 BBS2 VPS13B
17 lipodystrophy, familial partial, type 2 10.1 INS LEP
18 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.1 INS LEP
19 abdominal obesity-metabolic syndrome 1 10.0 INS LEP
20 body mass index quantitative trait locus 9 10.0
21 body mass index quantitative trait locus 8 10.0
22 body mass index quantitative trait locus 4 10.0
23 body mass index quantitative trait locus 10 10.0
24 body mass index quantitative trait locus 7 10.0
25 body mass index quantitative trait locus 12 10.0
26 body mass index quantitative trait locus 14 10.0
27 body mass index quantitative trait locus 18 10.0
28 intestinal volvulus 10.0 KCNJ11 NODAL
29 lutheran suppressor, x-linked 9.9 INS LEP
30 acanthosis nigricans 9.9 ALMS1 INS LEP
31 bardet-biedl syndrome 4 9.9 BBS1 BBS2
32 fetal macrosomia 9.9 INS LEP
33 nonalcoholic steatohepatitis 9.8 INS LEP
34 familial partial lipodystrophy 9.8 INS LEP
35 fundus dystrophy 9.8 BBS1 BBS2 RPGR VPS13B
36 factitious disorder 9.8 INS KCNJ11
37 hyperinsulinemic hypoglycemia, familial, 2 9.8 INS KCNJ11
38 lymphoma, hodgkin, classic 9.8
39 aging 9.8
40 infantile liver failure syndrome 1 9.8
41 bardet-biedl syndrome 11 9.8
42 acute liver failure 9.8
43 hepatitis 9.8
44 leukemia 9.8
45 liver disease 9.8
46 lymphoma 9.8
47 lymphoblastic leukemia 9.8
48 bardet-biedl syndrome 9.8
49 acute insulin response 9.7 INS KCNJ11
50 monogenic diabetes 9.7 INS KCNJ11

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:

53
Endocrine Features:
hypothyroidism
diabetes insipidus
menstrual irregularities
growth hormone deficiency
multinodular goiter
more
Skeletal Spine:
scoliosis
kyphosis

Skeletal Feet:
pes planus

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

Skin Nails Hair Hair:
alopecia

Head And Neck Teeth:
gingivitis
discolored enamel

Chest Breasts:
gynecomastia

Neurologic:
developmental delay

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

Skeletal Hands:
no polydactyly

Cardiovascular Vascular:
hypertension
atherosclerosis

Abdomen Liver:
hepatomegaly
hepatic steatosis
hepatitis, chronic active

Growth Height:
short stature

Laboratory Abnormalities:
hypertriglyceridemia
hyperuricemia
hyperinsulinemia
low hdl-cholesterol
normal total cholesterol
more
Cardiovascular Heart:
congestive heart failure
dilated cardiomyopathy (infancy)

Respiratory Airways:
asthma
recurrent pulmonary infections

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

Skeletal Skull:
hyperostosis frontalis interna

Skeletal:
advanced bone age

Growth Weight:
truncal obesity (onset in childhood)


Clinical features from OMIM:

203800

Human phenotypes related to Alstrom Syndrome:

55 31 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 photophobia 55 31 frequent (33%) Frequent (79-30%) HP:0000613
3 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
4 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
5 precocious puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000826
6 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
7 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
8 chronic otitis media 55 31 frequent (33%) Frequent (79-30%) HP:0000389
9 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
10 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
11 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
12 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
13 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
14 type ii diabetes mellitus 55 31 frequent (33%) Frequent (79-30%) HP:0005978
15 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
16 blindness 55 31 frequent (33%) Frequent (79-30%) HP:0000618
17 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
18 portal hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0001409
19 pulmonary fibrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002206
20 hypertriglyceridemia 55 31 frequent (33%) Frequent (79-30%) HP:0002155
21 pulmonary arterial hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0002092
22 acanthosis nigricans 55 31 frequent (33%) Frequent (79-30%) HP:0000956
23 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
24 generalized hirsutism 55 31 occasional (7.5%) Occasional (29-5%) HP:0002230
25 progressive visual loss 55 31 frequent (33%) Frequent (79-30%) HP:0000529
26 autism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000717
27 hepatic steatosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001397
28 hyperinsulinemia 55 31 frequent (33%) Frequent (79-30%) HP:0000842
29 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
30 cirrhosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001394
31 aplasia/hypoplasia of the cerebellum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007360
32 glomerulopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0100820
33 male hypogonadism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000026
34 deeply set eye 55 31 occasional (7.5%) Occasional (29-5%) HP:0000490
35 decreased testicular size 55 31 occasional (7.5%) Occasional (29-5%) HP:0008734
36 polycystic ovaries 55 31 occasional (7.5%) Occasional (29-5%) HP:0000147
37 round face 55 31 occasional (7.5%) Occasional (29-5%) HP:0000311
38 vesicoureteral reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0000076
39 asthma 55 31 frequent (33%) Frequent (79-30%) HP:0002099
40 nephrocalcinosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000121
41 obsessive-compulsive behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0000722
42 renovascular hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0100817
43 abnormality of the urethra 55 31 occasional (7.5%) Occasional (29-5%) HP:0000795
44 dilated cardiomyopathy 55 31 frequent (33%) Frequent (79-30%) HP:0001644
45 truncal obesity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001956
46 abnormality of female external genitalia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000055
47 insulin resistance 55 31 frequent (33%) Frequent (79-30%) HP:0000855
48 tubulointerstitial nephritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001970
49 chronic hepatic failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0100626
50 progressive sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000408

MGI Mouse Phenotypes related to Alstrom Syndrome:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 BBS1 DLX3 INS KCNJ11 LEP NODAL
2 growth/size/body region MP:0005378 10.13 ALMS1 BBS1 BBS2 DLX3 INS KCNJ11
3 nervous system MP:0003631 10.07 ALMS1 BBS1 BBS2 INS KCNJ11 LEP
4 endocrine/exocrine gland MP:0005379 10 ALMS1 BBS2 DLX3 INS KCNJ11 LEP
5 adipose tissue MP:0005375 9.97 ALMS1 BBS1 BBS2 INS KCNJ11 LEP
6 muscle MP:0005369 9.88 INS KCNJ11 LEP NODAL RPGR SLC4A4
7 renal/urinary system MP:0005367 9.8 INS LEP SLC4A4 SLC4A5 ALMS1 BBS1
8 reproductive system MP:0005389 9.7 ALMS1 BBS1 BBS2 INS LEP NODAL
9 pigmentation MP:0001186 9.62 ALMS1 KCNJ11 LEP RPGR
10 vision/eye MP:0005391 9.23 ALMS1 BBS1 BBS2 INS LEP NODAL
11 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 alpha-MSH Phase 2, Phase 3
2 Hormone Antagonists Phase 2, Phase 3
3 Hormones Phase 2, Phase 3
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
5 Liver Extracts

Interventional clinical trials:


# 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 Unknown status NCT02739217 Phase 2 PBI-4050
4 Clinical Study of a Single Ciliopathy: Alström Syndrome Recruiting NCT02890550
5 Clinical and Molecular Investigations Into Ciliopathies Active, not 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:

# Genetic test Affiliating Genes
1 Alstrom Syndrome 28 ALMS1

Anatomical Context for Alstrom Syndrome

MalaCards organs/tissues related to Alstrom Syndrome:

38
Kidney, Liver, Heart, Eye, Bone, Ovary, Cerebellum

Publications for Alstrom Syndrome

Articles related to Alstrom Syndrome:

(show all 29)
# 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
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. ( 25864795 )
2015
4
Differential effects on I^-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. ( 26494903 )
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
Alstrom syndrome (OMIM 203800): a case report and literature review. ( 18154657 )
2007
11
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. ( 17879432 )
2007
12
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. ( 17879439 )
2007
13
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
14
Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. ( 16669965 )
2006
15
Alstrom syndrome in four sibs from northern Jordan. ( 17146208 )
2006
16
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. ( 11941369 )
2002
17
Alstrom syndrome. ( 12038666 )
2002
18
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. ( 11941370 )
2002
19
Alstrom syndrome: a case report. ( 11732744 )
2001
20
Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. ( 11386758 )
2001
21
Alstrom syndrome in two siblings. ( 11265260 )
2001
22
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. ( 11343329 )
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 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALMS1 ALMS1, 333-BP ALU INS, EX16 insertion Pathogenic
2 ALMS1 NM_015120.4(ALMS1): c.10945G> T (p.Glu3649Ter) single nucleotide variant Pathogenic rs397514576 GRCh37 Chromosome 2, 73799946: 73799946
3 ALMS1 NM_015120.4(ALMS1): c.1794_1801dupGGCTTTGA (p.Lys601Argfs) duplication Pathogenic rs398122991 GRCh37 Chromosome 2, 73675445: 73675452
4 ALMS1 NM_015120.4(ALMS1): c.11116_11134del19 (p.Arg3706Leufs) deletion Pathogenic rs398122992 GRCh37 Chromosome 2, 73800117: 73800135
5 ALMS1 NM_015120.4(ALMS1): c.4296_4299delCACA (p.His1432Glnfs) deletion Pathogenic rs398122993 GRCh37 Chromosome 2, 73677947: 73677950
6 ALMS1 NM_015120.4(ALMS1): c.5926delG (p.Glu1976Serfs) deletion Pathogenic rs398122994 GRCh37 Chromosome 2, 73679577: 73679577
7 ALMS1 NM_015120.4(ALMS1): c.1900C> T (p.Gln634Ter) single nucleotide variant Pathogenic rs398122995 GRCh37 Chromosome 2, 73675551: 73675551
8 ALMS1 ALMS1, 19-BP INS insertion Pathogenic
9 ALMS1 NM_015120.4(ALMS1): c.8383C> T (p.Gln2795Ter) single nucleotide variant Pathogenic rs193919338 GRCh37 Chromosome 2, 73717466: 73717466
10 ALMS1 NM_015120.4(ALMS1): c.10775delC (p.Thr3592Lysfs) deletion Pathogenic rs387906312 GRCh37 Chromosome 2, 73799776: 73799776
11 ALMS1 NM_015120.4(ALMS1): c.2141_2142delCT (p.Ser714Tyrfs) deletion Pathogenic rs387906313 GRCh37 Chromosome 2, 73675792: 73675793
12 ALMS1 NM_015120.4(ALMS1): c.10992G> A (p.Trp3664Ter) single nucleotide variant Pathogenic rs193919339 GRCh37 Chromosome 2, 73799993: 73799993
13 ALMS1 NM_015120.4(ALMS1): c.8164C> T (p.Arg2722Ter) single nucleotide variant Pathogenic rs193919340 GRCh37 Chromosome 2, 73717247: 73717247
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 rs753301358 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 rs1034630858 GRCh38 Chromosome 2, 73453095: 73453098
28 ALMS1 NM_015120.4(ALMS1): c.10885C> T (p.Arg3629Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 73572759: 73572759
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
31 ALMS1 NM_015120.4(ALMS1): c.4183C> T (p.Gln1395Ter) single nucleotide variant Pathogenic rs969786171 GRCh37 Chromosome 2, 73677834: 73677834
32 ALMS1 NM_015120.4(ALMS1): c.7304_7305delAG (p.Glu2435Valfs) deletion Pathogenic GRCh37 Chromosome 2, 73680955: 73680956
33 ALMS1 NM_015120.4(ALMS1): c.11423_11427delAATTA (p.Lys3808Ilefs) deletion Pathogenic GRCh38 Chromosome 2, 73573297: 73573301
34 ALMS1 NM_015120.4(ALMS1): c.1054C> T (p.Arg352Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 73651844: 73651844
35 ALMS1 NM_015120.4(ALMS1): c.1819G> T (p.Gly607Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 73448343: 73448343
36 ALMS1 NM_015120.4(ALMS1): c.5146A> T (p.Arg1716Ter) single nucleotide variant Likely pathogenic rs773513360 GRCh38 Chromosome 2, 73451670: 73451670

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:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.33 BBS1 BBS2 RPGR
2 cilium GO:0005929 9.26 ALMS1 BBS1 BBS2 RPGR
3 BBSome GO:0034464 8.62 BBS1 BBS2

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.65 BBS1 BBS2 RPGR
2 cell projection organization GO:0030030 9.63 BBS1 BBS2 RPGR
3 Golgi to plasma membrane protein transport GO:0043001 9.43 BBS1 BBS2
4 inorganic anion transport GO:0015698 9.4 SLC4A4 SLC4A5
5 anion transport GO:0006820 9.37 SLC4A4 SLC4A5
6 glucose metabolic process GO:0006006 9.33 INS KCNJ11 LEP
7 positive regulation of insulin receptor signaling pathway GO:0046628 9.32 INS LEP
8 leptin-mediated signaling pathway GO:0033210 9.26 BBS2 LEP
9 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 8.96 BBS2 LEP
10 placenta development GO:0001890 8.8 DLX3 LEP NODAL

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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