ALMS
MCID: ALS001
MIFTS: 64

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 pathologic nystagmus 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 Norepinephrine and Mannitol 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 A syndrome 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 Alström syndrome (AS), also called Alström-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 210)
# Related Disease Score Top Affiliating Genes
1 pathologic nystagmus 30.6 RPGR CEP290 ALMS1
2 yemenite deaf-blind hypopigmentation syndrome 30.4 RPGR CEP290
3 ciliopathy 30.3 RPGRIP1L BBS7 BBS1
4 bardet-biedl syndrome 16 29.5 BBS7 BBS5 BBS4 BBS10 BBS1
5 polycystic kidney disease 29.5 NPHP3 BBS5 BBS4 BBS1
6 inherited retinal disorder 29.2 RPGR CEP290 BBS7 BBS5 BBS2 BBS10
7 polydactyly 28.8 IFT80 CEP290 BBS7 BBS5 BBS4 BBS2
8 bardet-biedl syndrome 1 28.4 NPHP1 CEP295 BBS7 BBS4 BBS2 BBS10
9 retinal degeneration 27.9 RPGRIP1L RPGR NPHP3 NPHP1 CEP290 BBS7
10 leber plus disease 27.0 RPGRIP1L RPGR NPHP3 NPHP1 CEP290 BBS5
11 primary ciliary dyskinesia 26.2 RPGRIP1L RPGR NPHP3 NPHP1 NEK9 KIF3A
12 nephronophthisis 25.8 RPGRIP1L RPGR NPHP3 NPHP1 NEK9 KIF3A
13 fundus dystrophy 25.5 RPGRIP1L RPGR NPHP3 NPHP1 NEK9 KIF3A
14 joubert syndrome 1 25.2 RPGRIP1L RPGR NPHP3 NPHP1 NEK9 KIF3A
15 meckel syndrome, type 1 25.1 RPGRIP1L RPGR NPHP3 NPHP1 NEK9 KIF3A
16 retinitis pigmentosa 25.1 RPGRIP1L RPGR NPHP3 NPHP1 NEK9 KIF3A
17 bardet-biedl syndrome 24.7 RPGRIP1L RPGR NPHP3 NPHP1 NEK9 LEP
18 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.3
19 atrial standstill 1 10.4
20 leber congenital amaurosis / early-onset severe retinal dystrophy 10.4 CEP290 ALMS1
21 nonsyndromic retinitis pigmentosa 10.4 BBS2 BBS1
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
23 sensorineural hearing loss 10.4
24 retinal ciliopathy 10.3 RPGR CEP290
25 acanthosis nigricans 10.3
26 autosomal recessive disease 10.3
27 growth hormone deficiency 10.3
28 fatty liver disease 10.3
29 encephalopathy 10.3
30 scoliosis 10.3
31 neuroretinitis 10.3
32 retinitis 10.3
33 dilated cardiomyopathy 10.2
34 simpson-golabi-behmel syndrome, type 2 10.2 CEP290 BBS4
35 usher syndrome type 2 10.2 RPGR CEP290 BBS1
36 cone-rod dystrophy 13 10.2 RPGRIP1L RPGR
37 night blindness, congenital stationary, autosomal dominant 3 10.2 BBS5 BBS4 BBS10
38 portal hypertension 10.2
39 cone-rod dystrophy 2 10.1
40 hypertriglyceridemia, familial 10.1
41 hypogonadism 10.1
42 hyperinsulinism 10.1
43 varicose veins 10.1
44 non-alcoholic fatty liver disease 10.1
45 hypogonadotropic hypogonadism 10.1
46 esophageal varix 10.1
47 hyperandrogenism 10.1
48 myopathy 10.1
49 liver cirrhosis 10.1
50 lung disease 10.1

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 160)
# 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%) Frequent (79-30%) 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 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
7 type ii diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0005978
8 blindness 58 31 frequent (33%) Very frequent (99-80%) HP:0000618
9 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
10 hypertriglyceridemia 58 31 frequent (33%) Very frequent (99-80%) HP:0002155
11 nystagmus 58 31 frequent (33%) Very frequent (99-80%) HP:0000639
12 pulmonary arterial hypertension 58 31 frequent (33%) Occasional (29-5%) HP:0002092
13 hyperinsulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0000842
14 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
15 acanthosis nigricans 58 31 frequent (33%) Frequent (79-30%) HP:0000956
16 insulin resistance 58 31 frequent (33%) Very frequent (99-80%) HP:0000855
17 chronic otitis media 31 frequent (33%) HP:0000389
18 recurrent respiratory infections 31 frequent (33%) HP:0002205
19 progressive visual loss 31 frequent (33%) HP:0000529
20 respiratory insufficiency 31 frequent (33%) HP:0002093
21 asthma 31 frequent (33%) HP:0002099
22 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
23 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
24 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
25 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
26 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
27 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
28 polycystic ovaries 58 31 occasional (7.5%) Occasional (29-5%) HP:0000147
29 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
30 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
31 decreased testicular size 58 31 occasional (7.5%) Occasional (29-5%) HP:0008734
32 intellectual disability 31 occasional (7.5%) HP:0001249
33 global developmental delay 31 occasional (7.5%) HP:0001263
34 hypothyroidism 31 occasional (7.5%) HP:0000821
35 renal insufficiency 31 occasional (7.5%) HP:0000083
36 pulmonary fibrosis 31 occasional (7.5%) HP:0002206
37 autism 31 occasional (7.5%) HP:0000717
38 depressivity 31 occasional (7.5%) HP:0000716
39 alopecia 31 occasional (7.5%) HP:0001596
40 glomerulopathy 31 occasional (7.5%) HP:0100820
41 obsessive-compulsive behavior 31 occasional (7.5%) HP:0000722
42 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
43 aplasia/hypoplasia of the cerebellum 31 occasional (7.5%) HP:0007360
44 nephrocalcinosis 31 occasional (7.5%) HP:0000121
45 generalized hirsutism 31 occasional (7.5%) HP:0002230
46 precocious puberty 31 occasional (7.5%) HP:0000826
47 renovascular hypertension 31 occasional (7.5%) HP:0100817
48 abnormality of the urethra 31 occasional (7.5%) HP:0000795
49 abnormality of female external genitalia 31 occasional (7.5%) HP:0000055
50 tubulointerstitial nephritis 31 occasional (7.5%) HP:0001970

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
hepatic steatosis
hepatitis, chronic active

Skeletal Feet:
pes planus

Head And Neck Eyes:
blindness
pigmentary retinopathy
cone-rod dystrophy
photophobia (infancy)
nystagmus (infancy)
more
Laboratory Abnormalities:
hypertriglyceridemia
hyperuricemia
hyperinsulinemia
low hdl-cholesterol
normal total cholesterol
more
Head And Neck Teeth:
gingivitis
discolored enamel

Skin Nails Hair Hair:
alopecia

Respiratory Airways:
asthma
recurrent pulmonary infections

Skin Nails Hair Skin:
acanthosis nigricans

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

Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Endocrine Features:
hypothyroidism
diabetes insipidus
growth hormone deficiency
multinodular goiter
menstrual irregularities
more
Cardiovascular Heart:
congestive heart failure
dilated cardiomyopathy (infancy)

Cardiovascular Vascular:
hypertension
atherosclerosis

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

Chest Breasts:
gynecomastia

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 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS5
2 cellular MP:0005384 10.32 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS7
3 nervous system MP:0003631 10.31 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS5
4 cardiovascular system MP:0005385 10.3 BBS1 BBS4 BBS5 BBS7 CEP290 KIF3A
5 growth/size/body region MP:0005378 10.29 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS5
6 behavior/neurological MP:0005386 10.28 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS5
7 renal/urinary system MP:0005367 10.17 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS7
8 adipose tissue MP:0005375 10.15 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS5
9 craniofacial MP:0005382 10.1 BBS1 BBS4 BBS7 CEP290 IFT80 KIF3A
10 limbs/digits/tail MP:0005371 9.98 BBS1 BBS2 BBS7 IFT80 KIF3A LEP
11 reproductive system MP:0005389 9.91 ALMS1 BBS1 BBS2 BBS4 BBS7 CEP290
12 pigmentation MP:0001186 9.77 ALMS1 BBS4 CEP290 LEP RPGR
13 respiratory system MP:0005388 9.7 BBS1 BBS4 CEP290 CROCC KIF3A LEP
14 vision/eye MP:0005391 9.47 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS7
15 taste/olfaction MP:0005394 9.35 BBS1 BBS2 BBS4 BBS7 CEP290

Drugs & Therapeutics for Alstrom Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Norepinephrine Approved Phase 4 51-41-2 439260
2
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4 Liver Extracts Phase 4
5 Anti-Bacterial Agents Phase 4
6 Antibiotics, Antitubercular Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of HA 330-II for Hemofiltration in Patients With Acute Liver Failure as a Bridge to Liver Transplantation: Clinical Evaluation Protocol. Recruiting NCT04243655 Phase 4 Standard medical treatment (SMT)
2 Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
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 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 Active, not recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
5 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
6 Rapid and Easy Evaluation of Cardiac Systolic Function by Means of Mitral Valve Movements in the Emergency Department Completed NCT02657824
7 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, Bone

Publications for Alstrom Syndrome

Articles related to Alstrom Syndrome:

(show top 50) (show all 283)
# Title Authors PMID Year
1
Novel Alu retrotransposon insertion leading to Alström syndrome. 24 6 56
21877133 2012
2
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. 24 6 56
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. 56 24 61
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. 6 56
17850632 2007
7
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. 6 56
11941369 2002
8
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. 56 24 61
11343329 2001
9
Homozygosity mapping at Alström syndrome to chromosome 2p. 6 56
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. 24 61
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. 24 61
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. 24 61
25296579 2015
17
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. 24 61
24503146 2014
18
Alström syndrome: cardiac magnetic resonance findings. 24 61
22498418 2013
19
Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome. 24 61
22447358 2013
20
The progression from obesity to type 2 diabetes in Alström syndrome. 24 61
21722283 2012
21
Coronary artery disease in Alström syndrome. 24 61
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. 24 61
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. 24 61
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 1280) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALMS1 NM_015120.4(ALMS1):c.7247C>A (p.Ser2416Ter)SNV Pathogenic 403943 rs1060500039 2:73680898-73680898 2:73453771-73453771
2 ALMS1 NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs)indel Pathogenic 403929 rs1060500034 2:73786185-73786185 2:73559058-73559058
3 ALMS1 NM_015120.4(ALMS1):c.363_366dup (p.Tyr123fs)duplication Pathogenic 403953 rs753301358 2:73635784-73635785 2:73408656-73408657
4 ALMS1 NM_015120.4(ALMS1):c.5590C>T (p.Gln1864Ter)SNV Pathogenic 403915 rs769440001 2:73679241-73679241 2:73452114-73452114
5 ALMS1 NM_015120.4(ALMS1):c.6571_6574del (p.Ser2191fs)deletion Pathogenic 434133 rs1034630858 2:73680220-73680223 2:73453093-73453096
6 ALMS1 NM_015120.4(ALMS1):c.4648dup (p.Arg1550fs)duplication Pathogenic 437922 rs1553403917 2:73678298-73678299 2:73451171-73451172
7 ALMS1 NM_015120.4(ALMS1):c.3300_3301del (p.Lys1103fs)deletion Pathogenic 438277 rs1553403653 2:73676950-73676951 2:73449823-73449824
8 ALMS1 NM_015120.4(ALMS1):c.9116del (p.Pro3039fs)deletion Pathogenic 438278 rs1425609364 2:73718198-73718198 2:73491071-73491071
9 ALMS1 NM_015120.4(ALMS1):c.10885C>T (p.Arg3629Ter)SNV Pathogenic 434136 rs1473611414 2:73799886-73799886 2:73572759-73572759
10 ALMS1 NM_015120.4(ALMS1):c.1819G>T (p.Gly607Ter)SNV Pathogenic 459853 rs1553403321 2:73675470-73675470 2:73448343-73448343
11 ALMS1 NM_015120.4(ALMS1):c.4183C>T (p.Gln1395Ter)SNV Pathogenic 459866 rs969786171 2:73677834-73677834 2:73450707-73450707
12 ALMS1 NM_015120.4(ALMS1):c.7302_7303AG[1] (p.Glu2435fs)short repeat Pathogenic 459884 rs1246023978 2:73680953-73680954 2:73453826-73453827
13 ALMS1 NM_015120.4(ALMS1):c.11418_11422AATTA[1] (p.Lys3808fs)short repeat Pathogenic 459849 rs1553418609 2:73800419-73800423 2:73573292-73573296
14 ALMS1 NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter)SNV Pathogenic 459845 rs1275113273 2:73651844-73651844 2:73424716-73424716
15 ALMS1 NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter)SNV Pathogenic 488677 rs1192396248 2:73799826-73799826 2:73572699-73572699
16 ALMS1 NM_015120.4(ALMS1):c.8008C>T (p.Arg2670Ter)SNV Pathogenic 529386 rs549857076 2:73717091-73717091 2:73489964-73489964
17 ALMS1 NM_015120.4(ALMS1):c.6167_6168AT[3] (p.Leu2058fs)short repeat Pathogenic 529393 rs759603306 2:73679817-73679818 2:73452690-73452691
18 ALMS1 NM_015120.4(ALMS1):c.4393C>T (p.Gln1465Ter)SNV Pathogenic 529397 rs904289501 2:73678044-73678044 2:73450917-73450917
19 ALMS1 NM_015120.4(ALMS1):c.563dup (p.Ser190fs)duplication Pathogenic 529371 rs1439541639 2:73646358-73646359 2:73419230-73419231
20 ALMS1 NM_015120.4(ALMS1):c.6375del (p.Pro2126fs)deletion Pathogenic 529396 rs1553404220 2:73680025-73680025 2:73452898-73452898
21 ALMS1 NM_015120.4(ALMS1):c.7674+1G>ASNV Pathogenic 545447 rs1417025395 2:73682423-73682423 2:73455296-73455296
22 ALMS1 NM_015120.4(ALMS1):c.11787G>A (p.Trp3929Ter)SNV Pathogenic 545448 rs1318520999 2:73827920-73827920 2:73600793-73600793
23 ALMS1 NM_015120.4(ALMS1):c.7375_7376del (p.Thr2458_Asp2459insTer)deletion Pathogenic 550572 rs1225343345 2:73681025-73681026 2:73453898-73453899
24 ALMS1 NM_015120.4(ALMS1):c.4913_4916TAAA[1] (p.Asn1639fs)short repeat Pathogenic 550038 rs779366889 2:73678564-73678567 2:73451437-73451440
25 ALMS1 NM_015120.4(ALMS1):c.5630dup (p.Gly1878fs)duplication Pathogenic 550511 rs1553404109 2:73679280-73679281 2:73452153-73452154
26 ALMS1 NM_015120.4(ALMS1):c.6590del (p.Lys2197fs)deletion Pathogenic 557712 rs1553404283 2:73680240-73680240 2:73453113-73453113
27 ALMS1 NM_015120.4(ALMS1):c.8394dup (p.Leu2799fs)duplication Pathogenic 550848 rs1553409715 2:73717472-73717473 2:73490345-73490346
28 ALMS1 NM_015120.4(ALMS1):c.10788_10789TG[1] (p.Val3597fs)short repeat Pathogenic 556135 rs1218465638 2:73799789-73799790 2:73572662-73572663
29 ALMS1 NM_015120.4(ALMS1):c.10829_10830AG[1] (p.Arg3611fs)short repeat Pathogenic 552413 rs755616266 2:73799830-73799831 2:73572703-73572704
30 ALMS1 NM_015120.4(ALMS1):c.11385del (p.Phe3795fs)deletion Pathogenic 551457 rs768759374 2:73800383-73800383 2:73573256-73573256
31 ALMS1 NM_015120.4(ALMS1):c.11618_11619delshort repeat Pathogenic 553694 rs1476205467 2:73826593-73826594 2:73599466-73599467
32 ALMS1 NM_015120.4(ALMS1):c.11314_11315AG[1] (p.Glu3773fs)short repeat Pathogenic 550797 rs747272625 2:73800315-73800318 2:73573188-73573191
33 ALMS1 NM_015120.4(ALMS1):c.11651_11652insGTTA (p.Asn3885fs)insertion Pathogenic 550627 rs760264695 2:73826628-73826629 2:73599501-73599502
34 ALMS1 NM_015120.4(ALMS1):c.6411_6412insCCTA (p.Ala2138fs)insertion Pathogenic 559892 rs1553404233 2:73680061-73680062 2:73452934-73452935
35 ALMS1 NM_015120.4(ALMS1):c.7090del (p.Leu2364fs)deletion Pathogenic 559893 rs1553404395 2:73680741-73680741 2:73453614-73453614
36 ALMS1 NM_015120.4(ALMS1):c.7316C>A (p.Ser2439Ter)SNV Pathogenic 560536 rs1558651680 2:73680967-73680967 2:73453840-73453840
37 ALMS1 NM_015120.4(ALMS1):c.9541C>T (p.Arg3181Ter)SNV Pathogenic 583154 rs563393715 2:73718624-73718624 2:73491497-73491497
38 ALMS1 NM_015120.4(ALMS1):c.6850dup (p.Leu2284fs)duplication Pathogenic 583303 rs1558651349 2:73680497-73680498 2:73453370-73453371
39 ALMS1 NM_015120.4(ALMS1):c.9422_9423del (p.Gln3141fs)deletion Pathogenic 566263 rs1558667882 2:73718505-73718506 2:73491378-73491379
40 ALMS1 NM_015120.4(ALMS1):c.11449C>T (p.Gln3817Ter)SNV Pathogenic 620477 rs940576720 2:73800450-73800450 2:73573323-73573323
41 ALMS1 NM_015120.4(ALMS1):c.60_61insTAGGAG (p.Glu21Ter)insertion Pathogenic 653256 2:73613048-73613049 2:73385920-73385921
42 ALMS1 NM_015120.4(ALMS1):c.301G>T (p.Glu101Ter)SNV Pathogenic 661135 2:73613294-73613294 2:73386166-73386166
43 ALMS1 NM_015120.4(ALMS1):c.2273del (p.Pro758fs)deletion Pathogenic 655483 2:73675923-73675923 2:73448796-73448796
44 ALMS1 NM_015120.4(ALMS1):c.3870T>G (p.Tyr1290Ter)SNV Pathogenic 648250 2:73677521-73677521 2:73450394-73450394
45 ALMS1 NM_015120.4(ALMS1):c.5735del (p.Pro1912fs)deletion Pathogenic 646515 2:73679385-73679385 2:73452258-73452258
46 ALMS1 NM_015120.4(ALMS1):c.5906C>G (p.Ser1969Ter)SNV Pathogenic 662562 2:73679557-73679557 2:73452430-73452430
47 ALMS1 NM_015120.4(ALMS1):c.8766C>A (p.Cys2922Ter)SNV Pathogenic 659575 2:73717849-73717849 2:73490722-73490722
48 ALMS1 NM_015120.4(ALMS1):c.9832_9835dup (p.Tyr3279fs)duplication Pathogenic 660080 2:73761997-73761998 2:73534870-73534871
49 ALMS1 NM_015120.4(ALMS1):c.10679del (p.Val3560fs)deletion Pathogenic 663965 2:73799680-73799680 2:73572553-73572553
50 ALMS1 NM_015120.4(ALMS1):c.11450_11451AG[1] (p.Arg3818fs)short repeat Pathogenic 652293 2:73800451-73800452 2:73573324-73573325

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
12.16 RPGRIP1L NPHP3 NPHP1 KIF3A IFT80 CEP290
2
Show member pathways
11.53 NPHP3 BBS7 BBS5 BBS4 BBS2 BBS10

GO Terms for Alstrom Syndrome

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.43 RPGRIP1L RPGR NPHP1 NEK9 LEP KIF3A
2 cytosol GO:0005829 10.39 RPGRIP1L NPHP3 NPHP1 NEK9 LEP KIF3A
3 cytoskeleton GO:0005856 10.21 RPGRIP1L RPGR NPHP1 KIF3A IFT80 CROCC
4 microtubule organizing center GO:0005815 10.06 RPGRIP1L RPGR CROCC CEP295 CEP290 BBS7
5 cell GO:0005623 10.05 SLC4A5 KIF3A BBS7 BBS5 BBS4 BBS2
6 centriole GO:0005814 9.95 KIF3A CROCC CEP295 CEP290 BBS4 ALMS1
7 centrosome GO:0005813 9.93 RPGRIP1L RPGR NEK9 KIF3A IFT80 CROCC
8 ciliary basal body GO:0036064 9.91 RPGRIP1L RPGR IFT80 CEP290 BBS7 BBS5
9 motile cilium GO:0031514 9.89 RPGR NPHP1 KIF3A BBS4 BBS2
10 ciliary membrane GO:0060170 9.85 BBS7 BBS5 BBS4 BBS2 BBS1
11 axoneme GO:0005930 9.84 RPGRIP1L KIF3A BBS7 BBS1
12 photoreceptor connecting cilium GO:0032391 9.83 RPGRIP1L NPHP1 KIF3A CEP290 BBS4
13 cell projection GO:0042995 9.83 RPGRIP1L RPGR NPHP3 NPHP1 KIF3A IFT80
14 BBSome GO:0034464 9.8 BBS7 BBS5 BBS4 BBS2 BBS1
15 photoreceptor outer segment GO:0001750 9.73 RPGR BBS7 BBS4
16 ciliary transition zone GO:0035869 9.72 RPGRIP1L CEP290 BBS4
17 ciliary rootlet GO:0035253 9.57 RPGRIP1L CROCC
18 cilium GO:0005929 9.5 RPGRIP1L RPGR NPHP3 NPHP1 KIF3A IFT80

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.05 KIF3A CEP290 BBS7 BBS5 BBS4 BBS2
2 response to stimulus GO:0050896 10.02 RPGR BBS7 BBS5 BBS4 BBS2 BBS10
3 visual perception GO:0007601 9.87 RPGR BBS7 BBS5 BBS4 BBS2 BBS10
4 cell projection organization GO:0030030 9.85 RPGR NPHP1 KIF3A CROCC CEP290 BBS7
5 ciliary basal body-plasma membrane docking GO:0097711 9.84 RPGRIP1L NPHP1 CEP290 ALMS1
6 protein localization GO:0008104 9.83 CROCC BBS7 BBS4 BBS2
7 kidney development GO:0001822 9.82 RPGRIP1L NPHP3 KIF3A
8 determination of left/right symmetry GO:0007368 9.8 RPGRIP1L NPHP3 KIF3A BBS7
9 fat cell differentiation GO:0045444 9.77 BBS7 BBS4 BBS2
10 heart looping GO:0001947 9.77 NPHP3 KIF3A BBS7 BBS5 BBS4
11 smoothened signaling pathway GO:0007224 9.76 KIF3A IFT80 BBS7
12 intracellular transport GO:0046907 9.73 BBS7 BBS5 BBS4
13 photoreceptor cell maintenance GO:0045494 9.73 NPHP3 CROCC BBS4 BBS2 BBS10 BBS1
14 protein localization to organelle GO:0033365 9.72 CROCC BBS4 BBS2
15 melanosome transport GO:0032402 9.71 BBS7 BBS5 BBS4 BBS2
16 positive regulation of intracellular protein transport GO:0090316 9.65 KIF3A CEP290
17 motile cilium assembly GO:0044458 9.65 KIF3A BBS5
18 brain morphogenesis GO:0048854 9.65 BBS4 BBS2
19 regulation of stress fiber assembly GO:0051492 9.64 BBS4 ALMS1
20 positive regulation of cilium assembly GO:0045724 9.63 CROCC BBS4
21 striatum development GO:0021756 9.63 BBS4 BBS2
22 leptin-mediated signaling pathway GO:0033210 9.63 LEP BBS4 BBS2
23 adult feeding behavior GO:0008343 9.62 LEP IFT80
24 response to leptin GO:0044321 9.62 BBS4 BBS2
25 centriole-centriole cohesion GO:0010457 9.61 KIF3A CROCC
26 regulation of centriole replication GO:0046599 9.61 CEP295 ALMS1
27 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.61 LEP BBS4 BBS2
28 microtubule anchoring at centrosome GO:0034454 9.6 KIF3A BBS4
29 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.58 BBS4 BBS2
30 bone mineralization involved in bone maturation GO:0035630 9.57 LEP IFT80
31 non-motile cilium assembly GO:1905515 9.56 RPGRIP1L KIF3A IFT80 BBS7 BBS4 BBS2
32 cilium assembly GO:0060271 9.36 RPGRIP1L RPGR NPHP3 KIF3A IFT80 CEP290

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 BBS7 BBS5 BBS4 BBS2 BBS10 BBS1

Sources for Alstrom Syndrome

3 CDC
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