ALMS
MCID: ALS001
MIFTS: 55

Alstrom Syndrome (ALMS)

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

Aliases & Classifications for Alstrom Syndrome

MalaCards integrated aliases for Alstrom Syndrome:

Name: Alstrom Syndrome 57 12 76 24 53 25 75 37 29 13 55 6 44 15 40 73
Alström Syndrome 24 53 25 59
Alms 57 53 25 75
Alstrom's Syndrome 76 53
Alss 57 53
Alstrom-Hallgren Syndrome 25
Alstroem Syndrome 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive


HPO:

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


GeneReviews:

24
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 : 53 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.

MalaCards based summary : Alstrom Syndrome, also known as alström syndrome, is related to hyperinsulinism and retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1, Centrosome And Basal Body Associated Protein). The drugs Hormone Antagonists and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and liver, and related phenotypes are nystagmus and depressivity

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.

Genetics Home Reference : 25 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 : 57 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 : 75 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 : 76 Alström syndrome (AS), also called Alström�??Hallgren syndrome, is a rare genetic disorder caused by... more...

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 53)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinism 29.8 INS KCNJ11 LEP
2 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.1
3 bardet-biedl syndrome 16 10.2 ALMS1 BBS1
4 lipodystrophy, familial partial, type 1 10.1 INS LEP
5 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.1 INS LEP
6 complete generalized lipodystrophy 10.1 INS LEP
7 abdominal obesity-metabolic syndrome 1 10.1 INS LEP
8 lipodystrophy, congenital generalized, type 1 10.1 INS LEP
9 lipodystrophy, familial partial, type 2 10.1 INS LEP
10 nonalcoholic steatohepatitis 10.1 INS LEP
11 nonsyndromic retinitis pigmentosa 10.1 BBS1 BBS2
12 bardet-biedl syndrome 6 10.1 BBS1 BBS2
13 bardet-biedl syndrome 8 10.1 BBS1 BBS2
14 fatty liver disease, nonalcoholic 1 10.1 INS LEP
15 acanthosis nigricans 10.1 ALMS1 INS LEP
16 fetal macrosomia 10.0 INS LEP
17 mckusick-kaufman syndrome 10.0 BBS1 BBS2
18 bardet-biedl syndrome 3 10.0 BBS1 BBS2
19 bardet-biedl syndrome 14 10.0 BBS1 BBS2
20 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.0
21 dilated cardiomyopathy 10.0
22 lipid metabolism disorder 10.0
23 bardet-biedl syndrome 13 10.0 ALMS1 BBS1 BBS2
24 bardet-biedl syndrome 1 10.0 BBS1 BBS2 LEP
25 bardet-biedl syndrome 4 10.0 BBS1 BBS2
26 prediabetes syndrome 10.0 INS LEP
27 bardet-biedl syndrome 18 10.0 BBS1 BBS2 VPS13B
28 lymphoma, hodgkin, classic 9.9
29 leukemia, acute lymphoblastic 9.9
30 infantile liver failure syndrome 1 9.9
31 bardet-biedl syndrome 2 9.9
32 bardet-biedl syndrome 10 9.9
33 bardet-biedl syndrome 11 9.9
34 bardet-biedl syndrome 12 9.9
35 acute liver failure 9.9
36 leukemia 9.9
37 liver disease 9.9
38 lymphoma 9.9
39 lymphocytic leukemia 9.9
40 bardet-biedl syndrome 9.9
41 maturity-onset diabetes of the young, type 10 9.9 INS KCNJ11
42 acute insulin response 9.9 INS KCNJ11
43 apnea, obstructive sleep 9.9 INS LEP
44 maturity-onset diabetes of the young, type 13 9.8 INS KCNJ11
45 endocrine pancreas disease 9.8 INS KCNJ11 LEP
46 pancreas disease 9.8 INS KCNJ11 LEP
47 glucose metabolism disease 9.8 INS KCNJ11 LEP
48 acquired metabolic disease 9.8 INS KCNJ11 LEP
49 gestational diabetes 9.8 INS KCNJ11 LEP
50 hyperglycemia 9.8 INS KCNJ11 LEP

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:

57
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:

59 32 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
3 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
4 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
5 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
8 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
9 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
10 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
11 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
12 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
13 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
14 type ii diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0005978
15 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
16 blindness 59 32 frequent (33%) Frequent (79-30%) HP:0000618
17 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
18 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
19 portal hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001409
20 pulmonary fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002206
21 hypertriglyceridemia 59 32 frequent (33%) Frequent (79-30%) HP:0002155
22 pulmonary arterial hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0002092
23 acanthosis nigricans 59 32 frequent (33%) Frequent (79-30%) HP:0000956
24 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
25 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
26 progressive visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000529
27 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
28 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
29 hyperinsulinemia 59 32 frequent (33%) Frequent (79-30%) HP:0000842
30 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
31 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
32 dilated cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001644
33 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
34 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
35 male hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000026
36 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
37 decreased testicular size 59 32 occasional (7.5%) Occasional (29-5%) HP:0008734
38 polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0000147
39 round face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000311
40 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
41 asthma 59 32 frequent (33%) Frequent (79-30%) HP:0002099
42 nephrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000121
43 obsessive-compulsive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000722
44 renovascular hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0100817
45 abnormality of the urethra 59 32 occasional (7.5%) Occasional (29-5%) HP:0000795
46 truncal obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001956
47 abnormality of female external genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000055
48 insulin resistance 59 32 frequent (33%) Frequent (79-30%) HP:0000855
49 tubulointerstitial nephritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001970
50 chronic hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0100626

MGI Mouse Phenotypes related to Alstrom Syndrome:

46
# 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 nervous system MP:0003631 10.02 ALMS1 BBS1 BBS2 INS KCNJ11 LEP
4 endocrine/exocrine gland MP:0005379 9.98 ALMS1 BBS2 DLX3 INS KCNJ11 LEP
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 9.7 ALMS1 BBS1 BBS2 INS LEP SLC4A4
8 pigmentation MP:0001186 9.56 ALMS1 KCNJ11 LEP RPGR
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 2, Phase 3
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
3 alpha-MSH Phase 2, Phase 3 581-05-5
4 Hormones Phase 2, Phase 3
5 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
2 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
3 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Enrolling by invitation NCT03184584 Phase 2, Phase 3 PBI-4050
4 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Completed NCT02739217 Phase 2 PBI-4050
5 Clinical Study of a Single Ciliopathy: Alström Syndrome Unknown status NCT02890550
6 Clinical and Molecular Investigations Into Ciliopathies Completed 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 29 ALMS1

Anatomical Context for Alstrom Syndrome

MalaCards organs/tissues related to Alstrom Syndrome:

41
Kidney, Heart, Liver, Eye, Bone, Cerebellum, Pancreas

Publications for Alstrom Syndrome

Articles related to Alstrom Syndrome:

(show all 40)
# Title Authors Year
1
Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center. ( 30064963 )
2018
2
Immunodeficiency in a Child with Alström Syndrome. ( 30155784 )
2018
3
Defining renal phenotype in Alström syndrome. ( 30307515 )
2018
4
Morphological and functional findings in Alström syndrome: a study of two families. ( 30328943 )
2018
5
Role of Alström syndrome 1 in the regulation of blood pressure and renal function. ( 30385718 )
2018
6
ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits. ( 30421101 )
2018
7
Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial. ( 30477455 )
2018
8
Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy. ( 30484169 )
2018
9
Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. ( 28135309 )
2017
10
Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness. ( 27605748 )
2016
11
Differential effects on I^-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. ( 26494903 )
2015
12
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. ( 25864795 )
2015
13
High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease. ( 26603037 )
2015
14
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. ( 25296579 )
2015
15
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. ( 24503146 )
2014
16
Presentation and course of diabetes in children and adolescents with Alstrom syndrome. ( 21518413 )
2011
17
Alstrom syndrome: A rare genetic disorder and its anaesthetic significance. ( 20661355 )
2010
18
Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype. ( 20108498 )
2009
19
Caloric restriction in Alström syndrome prevents hyperinsulinemia. ( 19283853 )
2009
20
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. ( 17879432 )
2007
21
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. ( 17879439 )
2007
22
Alstrom syndrome (OMIM 203800): a case report and literature review. ( 18154657 )
2007
23
Alstrom syndrome in four sibs from northern Jordan. ( 17146208 )
2006
24
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
25
Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. ( 16669965 )
2006
26
Alstrom syndrome. ( 12038666 )
2002
27
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. ( 11941369 )
2002
28
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. ( 11941370 )
2002
29
The Alström syndrome: is it a rare or unknown disease? ( 12532560 )
2002
30
Alstrom syndrome in two siblings. ( 11265260 )
2001
31
Alstrom syndrome: a case report. ( 11732744 )
2001
32
Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. ( 11386758 )
2001
33
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. ( 11343329 )
2001
34
Acute lymphoblastic leukemia in one of two siblings with Alstrom syndrome. ( 11061078 )
2000
35
Alstrom syndrome with hepatic dysfunction: report of one case. ( 11100527 )
2000
36
Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs. ( 10882760 )
2000
37
TGFA: exon-intron structure and evaluation as a candidate gene for Alstrom syndrome. ( 10066034 )
1999
38
Human DCTN1: genomic structure and evaluation as a candidate for Alstrom syndrome. ( 9799602 )
1998
39
The Alstrom syndrome: a new variant? ( 8181924 )
1994
40
Alstrom syndrome. ( 1800358 )
1991

Variations for Alstrom Syndrome

ClinVar genetic disease variations for Alstrom Syndrome:

6 (show top 50) (show all 2076)
# 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.8383C> T (p.Gln2795Ter) single nucleotide variant Pathogenic rs193919338 GRCh38 Chromosome 2, 73490339: 73490339
4 ALMS1 NM_015120.4(ALMS1): c.10775delC (p.Thr3592Lysfs) deletion Pathogenic rs387906312 GRCh37 Chromosome 2, 73799776: 73799776
5 ALMS1 NM_015120.4(ALMS1): c.10775delC (p.Thr3592Lysfs) deletion Pathogenic rs387906312 GRCh38 Chromosome 2, 73572649: 73572649
6 ALMS1 NM_015120.4(ALMS1): c.2141_2142delCT (p.Ser714Tyrfs) deletion Pathogenic rs387906313 GRCh37 Chromosome 2, 73675792: 73675793
7 ALMS1 NM_015120.4(ALMS1): c.2141_2142delCT (p.Ser714Tyrfs) deletion Pathogenic rs387906313 GRCh38 Chromosome 2, 73448665: 73448666
8 ALMS1 NM_015120.4(ALMS1): c.10992G> A (p.Trp3664Ter) single nucleotide variant Pathogenic rs193919339 GRCh37 Chromosome 2, 73799993: 73799993
9 ALMS1 NM_015120.4(ALMS1): c.10992G> A (p.Trp3664Ter) single nucleotide variant Pathogenic rs193919339 GRCh38 Chromosome 2, 73572866: 73572866
10 ALMS1 NM_015120.4(ALMS1): c.8164C> T (p.Arg2722Ter) single nucleotide variant Pathogenic rs193919340 GRCh37 Chromosome 2, 73717247: 73717247
11 ALMS1 NM_015120.4(ALMS1): c.8164C> T (p.Arg2722Ter) single nucleotide variant Pathogenic rs193919340 GRCh38 Chromosome 2, 73490120: 73490120
12 ALMS1 NM_015120.4(ALMS1): c.1868A> G (p.Tyr623Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922693 GRCh37 Chromosome 2, 73675519: 73675519
13 ALMS1 NM_015120.4(ALMS1): c.1868A> G (p.Tyr623Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922693 GRCh38 Chromosome 2, 73448392: 73448392
14 ALMS1 ALMS1, 333-BP ALU INS, EX16 insertion Pathogenic
15 ALMS1 NM_015120.4(ALMS1): c.10945G> T (p.Glu3649Ter) single nucleotide variant Pathogenic rs397514576 GRCh37 Chromosome 2, 73799946: 73799946
16 ALMS1 NM_015120.4(ALMS1): c.10945G> T (p.Glu3649Ter) single nucleotide variant Pathogenic rs397514576 GRCh38 Chromosome 2, 73572819: 73572819
17 ALMS1 NM_015120.4(ALMS1): c.10336C> T (p.Pro3446Ser) single nucleotide variant Uncertain significance rs267599448 GRCh37 Chromosome 2, 73786218: 73786218
18 ALMS1 NM_015120.4(ALMS1): c.10336C> T (p.Pro3446Ser) single nucleotide variant Uncertain significance rs267599448 GRCh38 Chromosome 2, 73559091: 73559091
19 ALMS1 NM_015120.4(ALMS1): c.10336C> T (p.Pro3446Ser) single nucleotide variant Uncertain significance rs267599448 NCBI36 Chromosome 2, 73639726: 73639726
20 ALMS1 NM_015120.4(ALMS1): c.12499C> T (p.Pro4167Ser) single nucleotide variant Uncertain significance rs267599450 GRCh37 Chromosome 2, 73836728: 73836728
21 ALMS1 NM_015120.4(ALMS1): c.12499C> T (p.Pro4167Ser) single nucleotide variant Uncertain significance rs267599450 GRCh38 Chromosome 2, 73609601: 73609601
22 ALMS1 NM_015120.4(ALMS1): c.12499C> T (p.Pro4167Ser) single nucleotide variant Uncertain significance rs267599450 NCBI36 Chromosome 2, 73690236: 73690236
23 ALMS1 NM_015120.4(ALMS1): c.1794_1801dupGGCTTTGA (p.Lys601Argfs) duplication Pathogenic rs398122991 GRCh37 Chromosome 2, 73675445: 73675452
24 ALMS1 NM_015120.4(ALMS1): c.1794_1801dupGGCTTTGA (p.Lys601Argfs) duplication Pathogenic rs398122991 GRCh38 Chromosome 2, 73448318: 73448325
25 ALMS1 NM_015120.4(ALMS1): c.11116_11134del19 (p.Arg3706Leufs) deletion Pathogenic rs398122992 GRCh37 Chromosome 2, 73800117: 73800135
26 ALMS1 NM_015120.4(ALMS1): c.11116_11134del19 (p.Arg3706Leufs) deletion Pathogenic rs398122992 GRCh38 Chromosome 2, 73572990: 73573008
27 ALMS1 NM_015120.4(ALMS1): c.4296_4299delCACA (p.His1432Glnfs) deletion Pathogenic rs398122993 GRCh37 Chromosome 2, 73677947: 73677950
28 ALMS1 NM_015120.4(ALMS1): c.4296_4299delCACA (p.His1432Glnfs) deletion Pathogenic rs398122993 GRCh38 Chromosome 2, 73450820: 73450823
29 ALMS1 NM_015120.4(ALMS1): c.5926delG (p.Glu1976Serfs) deletion Pathogenic rs398122994 GRCh37 Chromosome 2, 73679577: 73679577
30 ALMS1 NM_015120.4(ALMS1): c.5926delG (p.Glu1976Serfs) deletion Pathogenic rs398122994 GRCh38 Chromosome 2, 73452450: 73452450
31 ALMS1 NM_015120.4(ALMS1): c.1900C> T (p.Gln634Ter) single nucleotide variant Pathogenic rs398122995 GRCh37 Chromosome 2, 73675551: 73675551
32 ALMS1 NM_015120.4(ALMS1): c.1900C> T (p.Gln634Ter) single nucleotide variant Pathogenic rs398122995 GRCh38 Chromosome 2, 73448424: 73448424
33 ALMS1 NM_015120.4(ALMS1): c.9789G> A (p.Gln3263=) single nucleotide variant Likely benign rs757139660 GRCh37 Chromosome 2, 73761955: 73761955
34 ALMS1 NM_015120.4(ALMS1): c.9789G> A (p.Gln3263=) single nucleotide variant Likely benign rs757139660 GRCh38 Chromosome 2, 73534828: 73534828
35 ALMS1 NM_015120.4(ALMS1): c.11824G> A (p.Gly3942Ser) single nucleotide variant Benign/Likely benign rs61741524 GRCh37 Chromosome 2, 73827957: 73827957
36 ALMS1 NM_015120.4(ALMS1): c.11824G> A (p.Gly3942Ser) single nucleotide variant Benign/Likely benign rs61741524 GRCh38 Chromosome 2, 73600830: 73600830
37 ALMS1 NM_015120.4(ALMS1): c.75_77delGGA (p.Glu29del) deletion Benign/Likely benign rs70965731 GRCh37 Chromosome 2, 73613068: 73613070
38 ALMS1 NM_015120.4(ALMS1): c.75_77delGGA (p.Glu29del) deletion Benign/Likely benign rs70965731 GRCh38 Chromosome 2, 73385940: 73385942
39 ALMS1 NM_015120.4(ALMS1): c.72_77delGGAGGA (p.Glu28_Glu29del) deletion Benign/Likely benign rs61156725 GRCh37 Chromosome 2, 73613065: 73613070
40 ALMS1 NM_015120.4(ALMS1): c.72_77delGGAGGA (p.Glu28_Glu29del) deletion Benign/Likely benign rs61156725 GRCh38 Chromosome 2, 73385937: 73385942
41 ALMS1 NM_015120.4(ALMS1): c.72_77dupGGAGGA (p.Glu29_Ala30insGluGlu) duplication Conflicting interpretations of pathogenicity rs55889738 GRCh37 Chromosome 2, 73613065: 73613070
42 ALMS1 NM_015120.4(ALMS1): c.72_77dupGGAGGA (p.Glu29_Ala30insGluGlu) duplication Conflicting interpretations of pathogenicity rs55889738 GRCh38 Chromosome 2, 73385937: 73385942
43 ALMS1 NM_015120.4(ALMS1): c.11020C> A (p.Leu3674Ile) single nucleotide variant Uncertain significance rs549757247 GRCh37 Chromosome 2, 73800021: 73800021
44 ALMS1 NM_015120.4(ALMS1): c.11020C> A (p.Leu3674Ile) single nucleotide variant Uncertain significance rs549757247 GRCh38 Chromosome 2, 73572894: 73572894
45 ALMS1 NM_015120.4(ALMS1): c.3095C> G (p.Thr1032Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs199922877 GRCh37 Chromosome 2, 73676746: 73676746
46 ALMS1 NM_015120.4(ALMS1): c.3095C> G (p.Thr1032Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs199922877 GRCh38 Chromosome 2, 73449619: 73449619
47 ALMS1 NM_015120.4(ALMS1): c.3735G> A (p.Lys1245=) single nucleotide variant Likely benign rs140670994 GRCh37 Chromosome 2, 73677386: 73677386
48 ALMS1 NM_015120.4(ALMS1): c.3735G> A (p.Lys1245=) single nucleotide variant Likely benign rs140670994 GRCh38 Chromosome 2, 73450259: 73450259
49 ALMS1 NM_015120.4(ALMS1): c.1456A> G (p.Ile486Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73945001 GRCh37 Chromosome 2, 73675110: 73675110
50 ALMS1 NM_015120.4(ALMS1): c.1456A> G (p.Ile486Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73945001 GRCh38 Chromosome 2, 73447980: 73447980

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 microtubule organizing center GO:0005815 9.56 ALMS1 BBS1 BBS2 RPGR
2 ciliary basal body GO:0036064 9.33 BBS1 BBS2 RPGR
3 cilium GO:0005929 9.26 ALMS1 BBS1 BBS2 RPGR
4 BBSome GO:0034464 8.62 BBS1 BBS2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.67 BBS1 BBS2 RPGR
2 cell projection organization GO:0030030 9.65 BBS1 BBS2 RPGR
3 inorganic anion transport GO:0015698 9.46 SLC4A4 SLC4A5
4 Golgi to plasma membrane protein transport GO:0043001 9.43 BBS1 BBS2
5 regulation of intracellular pH GO:0051453 9.4 SLC4A4 SLC4A5
6 anion transport GO:0006820 9.37 SLC4A4 SLC4A5
7 glucose metabolic process GO:0006006 9.33 INS KCNJ11 LEP
8 positive regulation of insulin receptor signaling pathway GO:0046628 9.32 INS LEP
9 leptin-mediated signaling pathway GO:0033210 9.26 BBS2 LEP
10 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 8.96 BBS2 LEP
11 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 anion transmembrane transporter activity GO:0008509 9.16 SLC4A4 SLC4A5
2 inorganic anion exchanger activity GO:0005452 8.96 SLC4A4 SLC4A5
3 sodium:bicarbonate symporter activity GO:0008510 8.62 SLC4A4 SLC4A5

Sources for Alstrom Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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40 LOVD
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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