ALMS
MCID: ALS001
MIFTS: 62

Alstrom Syndrome (ALMS)

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

Aliases & Classifications for Alstrom Syndrome

MalaCards integrated aliases for Alstrom Syndrome:

Name: Alstrom Syndrome 56 12 74 52 25 58 73 36 29 13 54 6 43 15 39 71
Alms 56 52 25 73
Alström Syndrome 24 52 25
Alstrom's Syndrome 74 52
Alss 56 52
Alstrom-Hallgren Syndrome 25
Alstroem Syndrome 73

Characteristics:

Orphanet epidemiological data:

58
alstrom 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:

56
Inheritance:
autosomal recessive


HPO:

31
alstrom syndrome:
Clinical modifier death in early adulthood
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Alstrom Syndrome

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. Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes (the most common form of diabetes), and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alström syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alström syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder.

MalaCards based summary : Alstrom Syndrome, also known as alms, is related to bardet-biedl syndrome 2 and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1 Centrosome And Basal Body Associated Protein), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Hormone Antagonists and alpha-MSH 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.

NIH Rare Diseases : 52 Alstrom 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. Alstrom syndrome is caused by mutations in the ALMS1 gene . It is inherited in an autosomal recessive manner. While there is no specific treatment for Alstrom syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan.

OMIM : 56 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)

KEGG : 36 Alstrom syndrome (AS) is a rare autosomal recessive inherited disorder characterized by multiorgan dysfunction. AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. A wide range of clinical variability is observed among individuals with AS, including among sibs. ALMS1 is the only gene currently known to be associated with AS. However, it is not yet known how this gene causes the disorder.

UniProtKB/Swiss-Prot : 73 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 : 74 Alstrom syndrome (AS), also called Alstrom-Hallgren syndrome, is a very rare autosomal recessive genetic... 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 180)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 2 29.9 MKKS BBS2
2 yemenite deaf-blind hypopigmentation syndrome 29.8 RPGR CEP290
3 chromosome 2q35 duplication syndrome 29.6 MKKS BBS2 BBS10 BBS1
4 inherited retinal disorder 29.6 RPGR CEP290 BBS2 BBS10 BBS1
5 bardet-biedl syndrome 16 29.2 BBS7 BBS5 BBS10 BBS1
6 retinal degeneration 29.0 RPGR MKKS CEP290 BBS7 BBS10 BBS1
7 bardet-biedl syndrome 1 29.0 MKKS BBS7 BBS2 BBS10 BBS1 ALMS1
8 polydactyly 28.8 MKKS IFT80 BBS7 BBS2 BBS10 BBS1
9 leber congenital amaurosis 28.2 RPGR MKKS CEP290 BBS5 BBS2 BBS10
10 primary ciliary dyskinesia 27.5 RPGR NEK9 NEK8 KIF3A IFT80 CEP290
11 nephronophthisis 26.3 RPGR NEK9 NEK8 KIF3A IFT80 CEP290
12 fundus dystrophy 26.1 RPGR NEK9 NEK8 MKKS IFT80 CEP290
13 retinitis pigmentosa 25.3 RPGR NEK9 NEK8 MKKS KIF3A IFT80
14 meckel syndrome, type 1 25.1 RPGR NEK9 NEK8 MKKS KIF3A IFT80
15 bardet-biedl syndrome 24.9 RPGR NEK9 NEK8 MKKS LEP KIF3A
16 joubert syndrome 1 24.7 RPGR NEK9 NEK8 MKKS KIF3A IFT80
17 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.3
18 ciliopathy 10.5
19 atrial standstill 1 10.4
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
21 sensorineural hearing loss 10.4
22 acanthosis nigricans 10.3
23 autosomal recessive disease 10.3
24 nonsyndromic retinitis pigmentosa 10.3 BBS2 BBS1
25 growth hormone deficiency 10.3
26 fatty liver disease 10.3
27 encephalopathy 10.3
28 scoliosis 10.3
29 neuroretinitis 10.3
30 retinitis 10.3
31 dilated cardiomyopathy 10.2
32 pathologic nystagmus 10.2
33 leber congenital amaurosis / early-onset severe retinal dystrophy 10.2 CEP290 ALMS1
34 portal hypertension 10.2
35 cone-rod dystrophy 2 10.1
36 hypertriglyceridemia, familial 10.1
37 hypogonadism 10.1
38 hyperinsulinism 10.1
39 hypogonadotropism 10.1
40 night blindness, congenital stationary, autosomal dominant 3 10.1 BBS5 BBS10
41 varicose veins 10.1
42 non-alcoholic fatty liver disease 10.1
43 hypogonadotropic hypogonadism 10.1
44 esophageal varix 10.1
45 hyperandrogenism 10.1
46 myopathy 10.1
47 liver cirrhosis 10.1
48 chronic kidney disease 10.1
49 lung disease 10.1
50 retinal ciliopathy 10.1 RPGR CEP290

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:

58 31 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 truncal obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001956
3 cone/cone-rod dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000548
4 progressive sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000408
5 abnormal chorioretinal morphology 31 hallmark (90%) HP:0000532
6 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
7 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
8 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
9 type ii diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0005978
10 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
11 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
12 blindness 58 31 frequent (33%) Frequent (79-30%) HP:0000618
13 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
14 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
15 pulmonary arterial hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0002092
16 acanthosis nigricans 58 31 frequent (33%) Frequent (79-30%) HP:0000956
17 progressive visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000529
18 hyperinsulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0000842
19 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
20 asthma 58 31 frequent (33%) Frequent (79-30%) HP:0002099
21 insulin resistance 58 31 frequent (33%) Frequent (79-30%) HP:0000855
22 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
23 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
24 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
25 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
26 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
27 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
28 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
29 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
30 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
31 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
32 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
33 pulmonary fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002206
34 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
35 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
36 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
37 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
38 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
39 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
40 glomerulopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100820
41 male hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000026
42 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
43 decreased testicular size 58 31 occasional (7.5%) Occasional (29-5%) HP:0008734
44 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
45 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
46 polycystic ovaries 58 31 occasional (7.5%) Occasional (29-5%) HP:0000147
47 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
48 nephrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000121
49 renovascular hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0100817
50 abnormality of the urethra 58 31 occasional (7.5%) Occasional (29-5%) HP:0000795

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis

Cardiovascular Vascular:
hypertension
atherosclerosis

Skeletal Feet:
pes planus

Skin Nails Hair Hair:
alopecia

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

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

Endocrine Features:
hypothyroidism
diabetes insipidus
growth hormone deficiency
menstrual irregularities
multinodular goiter
more
Abdomen Liver:
hepatomegaly
hepatic steatosis
hepatitis, chronic active

Growth Height:
short stature

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

Head And Neck Teeth:
gingivitis
discolored enamel

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 ALMS1 BBS1 BBS10 BBS2 BBS5 BBS7
2 behavior/neurological MP:0005386 10.22 ALMS1 BBS1 BBS10 BBS2 BBS5 BBS7
3 growth/size/body region MP:0005378 10.21 ALMS1 BBS1 BBS10 BBS2 BBS5 BBS7
4 cardiovascular system MP:0005385 10.2 BBS1 BBS5 BBS7 CEP290 KIF3A LEP
5 nervous system MP:0003631 10.13 ALMS1 BBS1 BBS10 BBS2 BBS5 BBS7
6 renal/urinary system MP:0005367 10 ALMS1 BBS1 BBS10 BBS2 BBS7 CEP290
7 limbs/digits/tail MP:0005371 9.97 BBS1 BBS2 BBS5 BBS7 IFT80 KIF3A
8 respiratory system MP:0005388 9.7 BBS1 CEP290 CROCC KIF3A LEP MKKS
9 vision/eye MP:0005391 9.44 ALMS1 BBS1 BBS10 BBS2 BBS5 BBS7
10 taste/olfaction MP:0005394 9.35 BBS1 BBS2 BBS7 CEP290 MKKS

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 alpha-MSH Phase 2, Phase 3 581-05-5
3 Hormones Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
2 A Phase 3 Trial of Setmelanotide (RM-493), a 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
3 An Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Active, not recruiting NCT03184584 Phase 2, Phase 3 PBI-4050
4 A Phase 2, Single-Arm, Open-Label Study to Evaluate the Safety and Tolerability of PBI-4050 and of Its Effects on the Inflammatory, Fibrosis, Diabetes and Obesity Biomarkers in Subjects With Alström Syndrome Completed NCT02739217 Phase 2 PBI-4050
5 Rapid and Easy Evaluation of Cardiac Systolic Function by Means of Mitral Valve Movements in the Emergency Department Completed NCT02657824
6 Clinical Study of a Single Ciliopathy: Alström Syndrome Terminated NCT02890550

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:

40
Liver, Kidney, Heart, Skin, Lung, Eye, Thyroid

Publications for Alstrom Syndrome

Articles related to Alstrom Syndrome:

(show top 50) (show all 280)
# Title Authors PMID Year
1
Novel Alu retrotransposon insertion leading to Alström syndrome. 24 56 6
21877133 2012
2
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. 24 56 6
11941370 2002
3
Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families. 61 56 6
9409865 1997
4
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. 61 24 56
25864795 2015
5
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. 56 6
17594715 2007
6
Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome. 56 6
17850632 2007
7
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. 56 6
11941369 2002
8
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. 61 24 56
11343329 2001
9
Homozygosity mapping at Alström syndrome to chromosome 2p. 56 6
9063741 1997
10
Alström syndrome. 24 56
17940554 2007
11
The Alstrom syndrome: a new variant? 61 56
8181924 1994
12
Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child. 61 24
30600744 2019
13
Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial. 61 24
30477455 2018
14
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. 61 24
29193673 2018
15
Alström Syndrome: Mutation Spectrum of ALMS1. 61 24
25846608 2015
16
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. 61 24
25296579 2015
17
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. 61 24
24503146 2014
18
Alström syndrome: cardiac magnetic resonance findings. 61 24
22498418 2013
19
Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome. 61 24
22447358 2013
20
The progression from obesity to type 2 diabetes in Alström syndrome. 61 24
21722283 2012
21
Coronary artery disease in Alström syndrome. 61 24
21897446 2012
22
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. 6
21901789 2011
23
Clinical utility gene card for: Alström syndrome. 6
21522186 2011
24
Presentation and course of diabetes in children and adolescents with Alstrom syndrome. 61 24
21518413 2011
25
Alström syndrome and cecal volvulus in 2 siblings. 61 24
19440062 2009
26
Caloric restriction in Alström syndrome prevents hyperinsulinemia. 56
19283853 2009
27
Characterization of the IGF system in 15 patients with Alström syndrome. 61 24
17223998 2007
28
A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. 56
17206865 2007
29
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. 61 24
16720663 2006
30
Alms1-disrupted mice recapitulate human Alström syndrome. 56
16000322 2005
31
A mild form of Alstrom disease associated with metabolic syndrome and very high fasting serum free fatty acids: two cases diagnosed in adult age. 61 24
15166753 2004
32
Alström Syndrome 6
20301444 2003
33
Alström syndrome: further evidence for linkage to human chromosome 2p13. 56
10598815 1999
34
TGFA: exon-intron structure and evaluation as a candidate gene for Alström syndrome. 56
10066034 1999
35
Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family. 56
9921899 1998
36
Alström syndrome. Report of 22 cases and literature review. 56
9663233 1998
37
Hepatic dysfunction in two sibs with Alström syndrome: case report and review of the literature. 56
9066877 1997
38
Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy. 56
8636816 1996
39
A case of Alström syndrome associated with diabetes insipidus. 56
8556827 1995
40
Longitudinal study of the early electroretinographic changes in Alström's syndrome. 56
8488920 1993
41
Growth hormone deficiency in two siblings with Alström syndrome. 56
8418611 1993
42
Hepatic dysfunction in Alström disease. 56
1746604 1991
43
Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction. 56
2231654 1990
44
Late onset dilated cardiomyopathy in a unique familial syndrome of hypogonadism and metabolic abnormalities. 56
3687707 1987
45
Ophthalmologic and systemic manifestations of Alström's disease. 56
3766665 1986
46
Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor. 56
2578425 1985
47
The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. 56
4689172 1973
48
Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities. 56
5824738 1969
49
Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. 56
13649370 1959
50
Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy. 24
30484169 2019

Variations for Alstrom Syndrome

ClinVar genetic disease variations for Alstrom Syndrome:

6 (show top 50) (show all 1006) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALMS1 NM_015120.4(ALMS1):c.4156dup (p.Thr1386fs)duplication Pathogenic 210127 rs797045228 2:73677806-73677807 2:73450679-73450680
2 ALMS1 NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter)SNV Pathogenic 210129 rs770558150 2:73680087-73680087 2:73452960-73452960
3 ALMS1 NM_015120.4(ALMS1):c.10483C>T (p.Gln3495Ter)SNV Pathogenic 210122 rs772624348 2:73799484-73799484 2:73572357-73572357
4 ALMS1 ALMS1, 19-BP INSinsertion Pathogenic 3969
5 ALMS1 NM_015120.4(ALMS1):c.8383C>T (p.Gln2795Ter)SNV Pathogenic 3970 rs193919338 2:73717466-73717466 2:73490339-73490339
6 ALMS1 NM_015120.4(ALMS1):c.10775del (p.Thr3592fs)deletion Pathogenic 3971 rs387906312 2:73799776-73799776 2:73572649-73572649
7 ALMS1 NM_015120.4(ALMS1):c.2137_2138CT[2] (p.Ser714fs)short repeat Pathogenic 3972 rs387906313 2:73675788-73675789 2:73448661-73448662
8 ALMS1 NM_015120.4(ALMS1):c.10992G>A (p.Trp3664Ter)SNV Pathogenic 3974 rs193919339 2:73799993-73799993 2:73572866-73572866
9 ALMS1 NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter)SNV Pathogenic 3975 rs193919340 2:73717247-73717247 2:73490120-73490120
10 ALMS1 NM_015120.4(ALMS1):c.1794_1801dup (p.Lys601delinsArgLeuTer)duplication Pathogenic 92190 rs398122991 2:73675442-73675443 2:73448315-73448316
11 ALMS1 NM_015120.4(ALMS1):c.11116_11134del (p.Arg3706fs)deletion Pathogenic 92191 rs398122992 2:73800117-73800135 2:73572990-73573008
12 ALMS1 NM_015120.4(ALMS1):c.4292_4293CA[2] (p.His1432fs)short repeat Pathogenic 92192 rs398122993 2:73677943-73677946 2:73450816-73450819
13 ALMS1 NM_015120.4(ALMS1):c.5926del (p.Glu1976fs)deletion Pathogenic 92193 rs398122994 2:73679577-73679577 2:73452450-73452450
14 ALMS1 NM_015120.4(ALMS1):c.1900C>T (p.Gln634Ter)SNV Pathogenic 92240 rs398122995 2:73675551-73675551 2:73448424-73448424
15 ALMS1 ALMS1, 333-BP ALU INS, EX16insertion Pathogenic 37246
16 ALMS1 NM_015120.4(ALMS1):c.10945G>T (p.Glu3649Ter)SNV Pathogenic 39748 rs397514576 2:73799946-73799946 2:73572819-73572819
17 ALMS1 NM_015120.4(ALMS1):c.2822T>A (p.Leu941Ter)SNV Pathogenic 224801 rs539612316 2:73676473-73676473 2:73449346-73449346
18 ALMS1 NM_015120.4(ALMS1):c.3019dup (p.Arg1007fs)duplication Pathogenic 240992 rs878854998 2:73676669-73676670 2:73449542-73449543
19 ALMS1 NM_015120.4(ALMS1):c.9433dup (p.Thr3145fs)duplication Pathogenic 241016 rs878855003 2:73718512-73718513 2:73491385-73491386
20 ALMS1 NM_015120.4(ALMS1):c.11207C>A (p.Ser3736Ter)SNV Pathogenic 280474 rs367877017 2:73800208-73800208 2:73573081-73573081
21 ALMS1 NM_015120.4(ALMS1):c.7247C>A (p.Ser2416Ter)SNV Pathogenic 403943 rs1060500039 2:73680898-73680898 2:73453771-73453771
22 ALMS1 NM_015120.4(ALMS1):c.363_366dup (p.Tyr123fs)duplication Pathogenic 403953 rs753301358 2:73635784-73635785 2:73408656-73408657
23 ALMS1 NM_015120.4(ALMS1):c.5590C>T (p.Gln1864Ter)SNV Pathogenic 403915 rs769440001 2:73679241-73679241 2:73452114-73452114
24 ALMS1 NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs)indel Pathogenic 403929 rs1060500034 2:73786185-73786185 2:73559058-73559058
25 ALMS1 NM_015120.4(ALMS1):c.6571_6574del (p.Ser2191fs)deletion Pathogenic 434133 rs1034630858 2:73680220-73680223 2:73453093-73453096
26 ALMS1 NM_015120.4(ALMS1):c.4648dup (p.Arg1550fs)duplication Pathogenic 437922 rs1553403917 2:73678298-73678299 2:73451171-73451172
27 ALMS1 NM_015120.4(ALMS1):c.9116del (p.Pro3039fs)deletion Pathogenic 438278 rs1425609364 2:73718198-73718198 2:73491071-73491071
28 ALMS1 NM_015120.4(ALMS1):c.3300_3301del (p.Lys1103fs)deletion Pathogenic 438277 rs1553403653 2:73676950-73676951 2:73449823-73449824
29 ALMS1 NM_015120.4(ALMS1):c.4183C>T (p.Gln1395Ter)SNV Pathogenic 459866 rs969786171 2:73677834-73677834 2:73450707-73450707
30 ALMS1 NM_015120.4(ALMS1):c.10885C>T (p.Arg3629Ter)SNV Pathogenic 434136 rs1473611414 2:73799886-73799886 2:73572759-73572759
31 ALMS1 NM_015120.4(ALMS1):c.7302_7303AG[1] (p.Glu2435fs)short repeat Pathogenic 459884 rs1246023978 2:73680953-73680954 2:73453826-73453827
32 ALMS1 NM_015120.4(ALMS1):c.11418_11422AATTA[1] (p.Lys3808fs)short repeat Pathogenic 459849 rs1553418609 2:73800419-73800423 2:73573292-73573296
33 ALMS1 NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter)SNV Pathogenic 459845 rs1275113273 2:73651844-73651844 2:73424716-73424716
34 ALMS1 NM_015120.4(ALMS1):c.1819G>T (p.Gly607Ter)SNV Pathogenic 459853 rs1553403321 2:73675470-73675470 2:73448343-73448343
35 ALMS1 NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter)SNV Pathogenic 488677 rs1192396248 2:73799826-73799826 2:73572699-73572699
36 ALMS1 NM_015120.4(ALMS1):c.8008C>T (p.Arg2670Ter)SNV Pathogenic 529386 rs549857076 2:73717091-73717091 2:73489964-73489964
37 ALMS1 NM_015120.4(ALMS1):c.4393C>T (p.Gln1465Ter)SNV Pathogenic 529397 rs904289501 2:73678044-73678044 2:73450917-73450917
38 ALMS1 NM_015120.4(ALMS1):c.6375del (p.Pro2126fs)deletion Pathogenic 529396 rs1553404220 2:73680025-73680025 2:73452898-73452898
39 ALMS1 NM_015120.4(ALMS1):c.7674+1G>ASNV Pathogenic 545447 rs1417025395 2:73682423-73682423 2:73455296-73455296
40 ALMS1 NM_015120.4(ALMS1):c.11787G>A (p.Trp3929Ter)SNV Pathogenic 545448 rs1318520999 2:73827920-73827920 2:73600793-73600793
41 ALMS1 NM_015120.4(ALMS1):c.6167_6168AT[3] (p.Leu2058fs)short repeat Pathogenic 529393 rs759603306 2:73679817-73679818 2:73452690-73452691
42 ALMS1 NM_015120.4(ALMS1):c.563dup (p.Ser190fs)duplication Pathogenic 529371 rs1439541639 2:73646358-73646359 2:73419230-73419231
43 ALMS1 NM_015120.4(ALMS1):c.7375_7376del (p.Thr2458_Asp2459insTer)deletion Pathogenic 550572 rs1225343345 2:73681025-73681026 2:73453898-73453899
44 ALMS1 NM_015120.4(ALMS1):c.4913_4916TAAA[1] (p.Asn1639fs)short repeat Pathogenic 550038 rs779366889 2:73678564-73678567 2:73451437-73451440
45 ALMS1 NM_015120.4(ALMS1):c.5630dup (p.Gly1878fs)duplication Pathogenic 550511 rs1553404109 2:73679280-73679281 2:73452153-73452154
46 ALMS1 NM_015120.4(ALMS1):c.6590del (p.Lys2197fs)deletion Pathogenic 557712 rs1553404283 2:73680240-73680240 2:73453113-73453113
47 ALMS1 NM_015120.4(ALMS1):c.8394dup (p.Leu2799fs)duplication Pathogenic 550848 rs1553409715 2:73717472-73717473 2:73490345-73490346
48 ALMS1 NM_015120.4(ALMS1):c.10788_10789TG[1] (p.Val3597fs)short repeat Pathogenic 556135 rs1218465638 2:73799789-73799790 2:73572662-73572663
49 ALMS1 NM_015120.4(ALMS1):c.10829_10830AG[1] (p.Arg3611fs)short repeat Pathogenic 552413 rs755616266 2:73799830-73799831 2:73572703-73572704
50 ALMS1 NM_015120.4(ALMS1):c.11385del (p.Phe3795fs)deletion Pathogenic 551457 rs768759374 2:73800383-73800383 2:73573256-73573256

Expression for Alstrom Syndrome

Search GEO for disease gene expression data for Alstrom Syndrome.

Pathways for Alstrom Syndrome

Pathways related to Alstrom Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.05 MKKS KIF3A IFT80 CEP290 BBS7 BBS5
2
Show member pathways
11.46 MKKS BBS7 BBS5 BBS2 BBS10 BBS1

GO Terms for Alstrom Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.39 RPGR NEK9 NEK8 MKKS LEP KIF3A
2 cell projection GO:0042995 10.1 RPGR NEK8 KIF3A IFT80 CROCC CEP290
3 cell GO:0005623 10.07 SLC4A5 MKKS KIF3A BBS7 BBS5 BBS2
4 cytoskeleton GO:0005856 10.07 RPGR NEK8 MKKS KIF3A IFT80 CROCC
5 ciliary basal body GO:0036064 9.91 RPGR MKKS CEP290 BBS7 BBS5 BBS2
6 microtubule organizing center GO:0005815 9.9 RPGR NEK8 MKKS CROCC CEP295 CEP290
7 centriole GO:0005814 9.83 KIF3A CROCC CEP295 CEP290 ALMS1
8 motile cilium GO:0031514 9.8 RPGR MKKS KIF3A BBS2
9 axoneme GO:0005930 9.78 KIF3A BBS7 BBS5 BBS1
10 ciliary membrane GO:0060170 9.76 BBS7 BBS5 BBS2 BBS1
11 centrosome GO:0005813 9.73 RPGR NEK9 NEK8 MKKS KIF3A IFT80
12 BBSome GO:0034464 9.71 BBS7 BBS5 BBS2 BBS1
13 cilium GO:0005929 9.4 RPGR NEK8 KIF3A IFT80 CROCC CEP290

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.01 KIF3A CEP290 BBS7 BBS5 BBS2 BBS1
2 response to stimulus GO:0050896 10 RPGR MKKS BBS7 BBS5 BBS2 BBS10
3 heart development GO:0007507 9.91 NEK8 MKKS KIF3A BBS7
4 visual perception GO:0007601 9.87 RPGR MKKS BBS7 BBS5 BBS2 BBS10
5 determination of left/right symmetry GO:0007368 9.8 NEK8 MKKS KIF3A BBS7
6 protein localization GO:0008104 9.79 CROCC BBS7 BBS2
7 heart looping GO:0001947 9.78 MKKS KIF3A BBS7 BBS5
8 cell projection organization GO:0030030 9.76 RPGR KIF3A CROCC CEP290 BBS7 BBS5
9 fat cell differentiation GO:0045444 9.74 MKKS BBS7 BBS2
10 smoothened signaling pathway GO:0007224 9.73 KIF3A IFT80 BBS7
11 intracellular transport GO:0046907 9.7 MKKS BBS7 BBS5
12 melanosome transport GO:0032402 9.67 MKKS BBS7 BBS5 BBS2
13 positive regulation of intracellular protein transport GO:0090316 9.65 KIF3A CEP290
14 motile cilium assembly GO:0044458 9.65 KIF3A BBS5
15 photoreceptor cell maintenance GO:0045494 9.65 MKKS CROCC BBS2 BBS10 BBS1
16 brain morphogenesis GO:0048854 9.64 MKKS BBS2
17 vasodilation GO:0042311 9.64 MKKS BBS2
18 protein localization to organelle GO:0033365 9.63 CROCC BBS2
19 chaperone-mediated protein complex assembly GO:0051131 9.63 MKKS BBS10
20 regulation of stress fiber assembly GO:0051492 9.62 MKKS ALMS1
21 striatum development GO:0021756 9.62 MKKS BBS2
22 leptin-mediated signaling pathway GO:0033210 9.61 MKKS LEP BBS2
23 cilium assembly GO:0060271 9.61 RPGR MKKS KIF3A IFT80 CEP290 BBS7
24 centriole-centriole cohesion GO:0010457 9.6 KIF3A CROCC
25 regulation of centriole replication GO:0046599 9.59 CEP295 ALMS1
26 response to leptin GO:0044321 9.58 MKKS BBS2
27 artery smooth muscle contraction GO:0014824 9.58 MKKS BBS2
28 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.58 MKKS LEP BBS2
29 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.55 MKKS BBS2
30 pigment granule aggregation in cell center GO:0051877 9.51 MKKS BBS7
31 non-motile cilium assembly GO:1905515 9.17 MKKS KIF3A IFT80 BBS7 BBS2 BBS10

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 9.1 MKKS BBS7 BBS5 BBS2 BBS10 BBS1

Sources for Alstrom Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
28 GO
29 GTR
30 HMDB
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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