ALMS
MCID: ALS001
MIFTS: 57

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 58 12 77 25 54 26 76 38 30 13 56 6 45 15 41 74
Alström Syndrome 25 54 26 60
Alms 58 54 26 76
Alstrom's Syndrome 77 54
Alss 58 54
Alstrom-Hallgren Syndrome 26
Alstroem Syndrome 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive


HPO:

33
alstrom syndrome:
Clinical modifier death in early adulthood
Inheritance autosomal recessive inheritance


GeneReviews:

25
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 : 54 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 acanthosis nigricans and hyperinsulinism. 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 liver, kidney and heart, and related phenotypes are short stature and truncal obesity

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 : 26 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 : 58 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 : 76 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 : 77 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 88)
# Related Disease Score Top Affiliating Genes
1 acanthosis nigricans 29.9 ALMS1 INS LEP
2 hyperinsulinism 29.4 LEP KCNJ11 INS
3 fundus dystrophy 29.3 ALMS1 BBS1 BBS2 RPGR
4 retinitis pigmentosa 28.5 SLC4A4 RPGR DNAI1 DNAH5 BBS2 BBS1
5 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.2
6 dilated cardiomyopathy 10.3
7 bardet-biedl syndrome 16 10.3 ALMS1 BBS1
8 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.2 LEP INS
9 lipodystrophy, familial partial, type 1 10.2 LEP INS
10 complete generalized lipodystrophy 10.2 INS LEP
11 abdominal obesity-metabolic syndrome 1 10.2 INS LEP
12 lipodystrophy, congenital generalized, type 1 10.2 INS LEP
13 lipodystrophy, familial partial, type 2 10.2 INS LEP
14 nonalcoholic steatohepatitis 10.2 INS LEP
15 fatty liver disease, nonalcoholic 1 10.1 INS LEP
16 fetal macrosomia 10.1 INS LEP
17 prediabetes syndrome 10.1 INS LEP
18 nonsyndromic retinitis pigmentosa 10.1 BBS2 BBS1
19 apnea, obstructive sleep 10.0 INS LEP
20 bardet-biedl syndrome 6 10.0 BBS1 BBS2
21 bardet-biedl syndrome 8 10.0 BBS1 BBS2
22 atrial standstill 1 10.0
23 diabetes mellitus, noninsulin-dependent 10.0
24 liver cirrhosis 10.0
25 portal hypertension 10.0
26 mckusick-kaufman syndrome 10.0 BBS1 BBS2
27 bardet-biedl syndrome 3 10.0 BBS1 BBS2
28 bardet-biedl syndrome 14 10.0 BBS1 BBS2
29 familial partial lipodystrophy 10.0 INS LEP
30 lymphoma, hodgkin, classic 10.0
31 yemenite deaf-blind hypopigmentation syndrome 10.0
32 leukemia, acute lymphoblastic 10.0
33 infantile liver failure syndrome 1 10.0
34 bardet-biedl syndrome 2 10.0
35 bardet-biedl syndrome 10 10.0
36 bardet-biedl syndrome 11 10.0
37 bardet-biedl syndrome 12 10.0
38 acute liver failure 10.0
39 leukemia 10.0
40 liver disease 10.0
41 lymphoma 10.0
42 lymphocytic leukemia 10.0
43 bardet-biedl syndrome 10.0
44 bardet-biedl syndrome 18 10.0 BBS1 BBS2
45 bardet-biedl syndrome 13 9.9 ALMS1 BBS1 BBS2
46 bardet-biedl syndrome 4 9.9 BBS1 BBS2
47 bardet-biedl syndrome 1 9.9 BBS1 BBS2 LEP
48 maturity-onset diabetes of the young, type 10 9.9 INS KCNJ11
49 arteries, anomalies of 9.9
50 varicose veins 9.9

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



Diseases related to Alstrom Syndrome

Symptoms & Phenotypes for Alstrom Syndrome

Human phenotypes related to Alstrom Syndrome:

60 33 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 truncal obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001956
3 cone/cone-rod dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000548
4 progressive sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000408
5 abnormal chorioretinal morphology 33 hallmark (90%) HP:0000532
6 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
7 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
8 chronic otitis media 60 33 frequent (33%) Frequent (79-30%) HP:0000389
9 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
10 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
11 type ii diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0005978
12 blindness 60 33 frequent (33%) Frequent (79-30%) HP:0000618
13 photophobia 60 33 frequent (33%) Frequent (79-30%) HP:0000613
14 hypertriglyceridemia 60 33 frequent (33%) Frequent (79-30%) HP:0002155
15 pulmonary arterial hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0002092
16 acanthosis nigricans 60 33 frequent (33%) Frequent (79-30%) HP:0000956
17 progressive visual loss 60 33 frequent (33%) Frequent (79-30%) HP:0000529
18 hyperinsulinemia 60 33 frequent (33%) Frequent (79-30%) HP:0000842
19 dilated cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001644
20 asthma 60 33 frequent (33%) Frequent (79-30%) HP:0002099
21 insulin resistance 60 33 frequent (33%) Frequent (79-30%) HP:0000855
22 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
23 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
24 precocious puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000826
25 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
26 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
27 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
28 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
29 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
30 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
31 portal hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0001409
32 pulmonary fibrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002206
33 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
34 generalized hirsutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002230
35 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
36 hepatic steatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001397
37 alopecia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001596
38 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
39 aplasia/hypoplasia of the cerebellum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007360
40 glomerulopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0100820
41 male hypogonadism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000026
42 deeply set eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0000490
43 decreased testicular size 60 33 occasional (7.5%) Occasional (29-5%) HP:0008734
44 polycystic ovaries 60 33 occasional (7.5%) Occasional (29-5%) HP:0000147
45 round face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000311
46 vesicoureteral reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0000076
47 nephrocalcinosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000121
48 obsessive-compulsive behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000722
49 renovascular hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0100817
50 abnormality of the urethra 60 33 occasional (7.5%) Occasional (29-5%) HP:0000795

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Alstrom Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 BBS1 DNAH5 DNAI1 INS KCNJ11 LEP
2 nervous system MP:0003631 10 ALMS1 BBS1 BBS2 DNAH5 DNAI1 INS
3 growth/size/body region MP:0005378 9.97 ALMS1 BBS1 BBS2 DNAH5 DNAI1 INS
4 adipose tissue MP:0005375 9.91 ALMS1 BBS1 BBS2 INS KCNJ11 LEP
5 endocrine/exocrine gland MP:0005379 9.91 ALMS1 BBS2 DNAH5 INS KCNJ11 LEP
6 renal/urinary system MP:0005367 9.56 ALMS1 BBS1 BBS2 DNAH5 INS LEP
7 pigmentation MP:0001186 9.46 ALMS1 KCNJ11 LEP RPGR
8 vision/eye MP:0005391 9.17 ALMS1 BBS1 BBS2 INS LEP RPGR

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 3,Phase 2
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
3 Hormones Phase 3,Phase 2
4 alpha-MSH Phase 3,Phase 2 581-05-5
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 Active, not recruiting 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 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 30 ALMS1

Anatomical Context for Alstrom Syndrome

MalaCards organs/tissues related to Alstrom Syndrome:

42
Liver, Kidney, Heart, Eye, Ovary, Cerebellum, Bone

Publications for Alstrom Syndrome

Articles related to Alstrom Syndrome:

(show top 50) (show all 196)
# Title Authors Year
1
ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits. ( 30421101 )
2019
2
Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy. ( 30484169 )
2019
3
Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child. ( 30600744 )
2019
4
Comparison of standard of care treatment with a low steroid and mycophenolate mofetil regimen for lupus nephritis in the ALMS and AURA studies. ( 31066646 )
2019
5
Alström Syndrome: A Rare Cause of Cardiomyopathy. ( 28285938 )
2018
6
A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. ( 29079548 )
2018
7
Five novel ALMS1 gene mutations in six patients with Alström syndrome. ( 29715191 )
2018
8
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls. ( 29718281 )
2018
9
Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome. ( 29720996 )
2018
10
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
11
Immunodeficiency in a Child with Alström Syndrome. ( 30155784 )
2018
12
Defining renal phenotype in Alström syndrome. ( 30307515 )
2018
13
Morphological and functional findings in Alström syndrome: a study of two families. ( 30328943 )
2018
14
Role of Alström syndrome 1 in the regulation of blood pressure and renal function. ( 30385718 )
2018
15
Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial. ( 30477455 )
2018
16
Ciliopathy: Alström Syndrome. ( 30578508 )
2018
17
Respiratory manifestations in 38 patients with Alström syndrome. ( 28029746 )
2017
18
Spectral-domain optical coherence tomography findings in Alström syndrome. ( 28112973 )
2017
19
Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. ( 28135309 )
2017
20
Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes. ( 28272210 )
2017
21
A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico. ( 28402684 )
2017
22
Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy. ( 28407410 )
2017
23
Kidney Transplantation in Alström Syndrome: Case Report. ( 28457383 )
2017
24
Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients. ( 28573831 )
2017
25
Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients. ( 28610912 )
2017
26
Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts. ( 28717663 )
2017
27
Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome. ( 28724398 )
2017
28
Aspects of learning from the perspective of people with Alström syndrome. ( 26084572 )
2016
29
Genetic evaluation of patients with Alström syndrome in the Polish population. ( 26283575 )
2016
30
A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family. ( 26285675 )
2016
31
Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. ( 26494903 )
2016
32
Pituitary morphovolumetric changes in Alström syndrome. ( 26704672 )
2016
33
Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome. ( 26894450 )
2016
34
A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome. ( 26910739 )
2016
35
Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes. ( 27142762 )
2016
36
Advanced non-alcoholic fatty liver disease and adipose tissue fibrosis in patients with Alström syndrome. ( 27178444 )
2016
37
Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome. ( 27523285 )
2016
38
Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness. ( 27605748 )
2016
39
Alström Syndrome with Portal Hypertension. ( 27766814 )
2016
40
Jacques-Louis David, Belisarius Begging for Alms 1781. ( 27994076 )
2016
41
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. ( 25296579 )
2015
42
Degeneration and plasticity of the optic pathway in Alström syndrome. ( 25355816 )
2015
43
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. ( 25619591 )
2015
44
Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy. ( 25706677 )
2015
45
Alström Syndrome: Mutation Spectrum of ALMS1. ( 25846608 )
2015
46
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. ( 25864795 )
2015
47
Diabetes in the young - a case of Alström syndrome with myopathy. ( 25874828 )
2015
48
Follicular variant of papillary thyroid cancer in Alström syndrome. ( 26048691 )
2015
49
Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome. ( 26066530 )
2015
50
Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study. ( 26104972 )
2015

Variations for Alstrom Syndrome

ClinVar genetic disease variations for Alstrom Syndrome:

6 (show top 50) (show all 2084)
# 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 rs55889738 GRCh37 Chromosome 2, 73613068: 73613070
38 ALMS1 NM_015120.4(ALMS1): c.75_77delGGA (p.Glu29del) deletion Benign/Likely benign rs55889738 GRCh38 Chromosome 2, 73385940: 73385942
39 ALMS1 NM_015120.4(ALMS1): c.72_77delGGAGGA (p.Glu28_Glu29del) deletion Benign/Likely benign rs55889738 GRCh37 Chromosome 2, 73613065: 73613070
40 ALMS1 NM_015120.4(ALMS1): c.72_77delGGAGGA (p.Glu28_Glu29del) deletion Benign/Likely benign rs55889738 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 Benign/Likely benign rs140670994 GRCh37 Chromosome 2, 73677386: 73677386
48 ALMS1 NM_015120.4(ALMS1): c.3735G> A (p.Lys1245=) single nucleotide variant Benign/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 cytoskeleton GO:0005856 9.8 ALMS1 BBS1 BBS2 DNAH5 DNAI1 RPGR
2 centrosome GO:0005813 9.73 ALMS1 BBS1 DNAI1 RPGR
3 microtubule organizing center GO:0005815 9.71 ALMS1 BBS1 BBS2 RPGR
4 ciliary basal body GO:0036064 9.54 BBS1 BBS2 RPGR
5 dynein complex GO:0030286 9.46 DNAH5 DNAI1
6 cell projection GO:0042995 9.43 ALMS1 BBS1 BBS2 DNAH5 DNAI1 RPGR
7 BBSome GO:0034464 9.26 BBS1 BBS2
8 outer dynein arm GO:0036157 9.16 DNAH5 DNAI1
9 cilium GO:0005929 9.1 ALMS1 BBS1 BBS2 DNAH5 DNAI1 RPGR

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.7 BBS1 BBS2 RPGR
2 photoreceptor cell maintenance GO:0045494 9.55 BBS1 BBS2
3 anion transmembrane transport GO:0098656 9.54 SLC4A4 SLC4A5
4 cilium movement GO:0003341 9.51 DNAH5 DNAI1
5 inorganic anion transport GO:0015698 9.49 SLC4A4 SLC4A5
6 Golgi to plasma membrane protein transport GO:0043001 9.48 BBS1 BBS2
7 regulation of intracellular pH GO:0051453 9.46 SLC4A4 SLC4A5
8 cilium assembly GO:0060271 9.46 BBS1 BBS2 DNAH5 RPGR
9 anion transport GO:0006820 9.43 SLC4A4 SLC4A5
10 glucose metabolic process GO:0006006 9.43 INS KCNJ11 LEP
11 outer dynein arm assembly GO:0036158 9.4 DNAH5 DNAI1
12 positive regulation of insulin receptor signaling pathway GO:0046628 9.37 INS LEP
13 leptin-mediated signaling pathway GO:0033210 9.32 BBS2 LEP
14 cell projection organization GO:0030030 9.26 BBS1 BBS2 DNAI1 RPGR
15 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 8.62 BBS2 LEP

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 9.32 BBS1 BBS2
2 dynein light chain binding GO:0045503 9.26 DNAH5 DNAI1
3 anion transmembrane transporter activity GO:0008509 9.16 SLC4A4 SLC4A5
4 inorganic anion exchanger activity GO:0005452 8.96 SLC4A4 SLC4A5
5 sodium:bicarbonate symporter activity GO:0008510 8.62 SLC4A4 SLC4A5

Sources for Alstrom Syndrome

3 CDC
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17 EFO
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70 SNOMED-CT via HPO
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