ALMS
MCID: ALS001
MIFTS: 65

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 57 12 73 20 43 58 72 36 29 13 54 6 44 15 39 70
Alms 57 20 43 72
Alström Syndrome 25 20 43
Alstrom's Syndrome 73 20
Alss 57 20
Alstrom-Hallgren Syndrome 43
Alstroem Syndrome 72

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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
alstrom syndrome:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0050473
OMIM® 57 203800
KEGG 36 H00417
MeSH 44 D056769
NCIt 50 C84549
SNOMED-CT 67 63702009
MESH via Orphanet 45 D056769
ICD10 via Orphanet 33 E34.8
UMLS via Orphanet 71 C0268425
Orphanet 58 ORPHA64
MedGen 41 C0268425
UMLS 70 C0268425

Summaries for Alstrom Syndrome

MedlinePlus Genetics : 43 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 10 and ciliopathy. 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 Aluminum sulfate and BCG vaccine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and eye, and related phenotypes are nystagmus and short stature

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.

GARD : 20 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® : 57 Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age (summary by Collin et al., 2002; Marshall et al., 2007). (203800) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 220)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 10 30.1 BBS10 BBS1 ALMS1
2 ciliopathy 29.9 RPGRIP1L CEP290 BBS7 BBS1
3 retinal degeneration 29.9 RPGRIP1L RPGR CEP290 BBS7 BBS4 BBS10
4 achromatopsia 29.8 RPGR IQCB1 CEP290
5 cone-rod dystrophy 2 28.5 RPGR IQCB1 CEP290 BBS9 BBS7 BBS4
6 bardet-biedl syndrome 1 28.5 CEP295 CEP290 BBS9 BBS7 BBS5 BBS4
7 polydactyly 28.4 RPGRIP1L IFT80 CEP290 BBS9 BBS7 BBS5
8 primary ciliary dyskinesia 28.1 RPGRIP1L RPGR NEK9 KIF3A IQCB1 IFT80
9 leber plus disease 27.5 RPGRIP1L RPGR KIF3A IQCB1 CEP290 BBS9
10 fundus dystrophy 27.1 RPGRIP1L RPGR NEK9 KIF3A IQCB1 IFT80
11 retinitis pigmentosa 27.0 RPGRIP1L RPGR NEK9 KIF3A IQCB1 IFT80
12 nephronophthisis 26.8 RPGRIP1L RPGR NEK9 KIF3A IQCB1 IFT80
13 meckel syndrome, type 1 26.8 RPGRIP1L RPGR NEK9 KIF3A IQCB1 IFT80
14 bardet-biedl syndrome 26.6 RPGRIP1L RPGR NEK9 LEP KIF3A IQCB1
15 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.0
16 atrial standstill 1 10.4
17 leber congenital amaurosis / early-onset severe retinal dystrophy 10.3 CEP290 ALMS1
18 genetic obesity 10.3 LEP CEP290
19 growth hormone deficiency 10.3
20 sensorineural hearing loss 10.3
21 cogan syndrome 10.3 RPGRIP1L CEP290
22 nonsyndromic retinitis pigmentosa 10.3 BBS2 BBS1
23 simpson-golabi-behmel syndrome, type 2 10.3 CEP290 BBS4
24 joubert syndrome 6 10.3 RPGRIP1L CEP290
25 acanthosis nigricans 10.2
26 autosomal recessive disease 10.2
27 joubert syndrome 2 10.2 RPGRIP1L CEP290
28 joubert syndrome 24 10.2 RPGRIP1L CEP290
29 scoliosis 10.2
30 neuroretinitis 10.2
31 retinitis 10.2
32 joubert syndrome 9 10.2 RPGRIP1L CEP290
33 joubert syndrome 13 10.2 RPGRIP1L CEP290
34 retinitis pigmentosa 34 10.2 RPGR IQCB1
35 joubert syndrome 8 10.1 RPGRIP1L CEP290
36 retinal aplasia 10.1 IQCB1 CEP290
37 fibrosis of extraocular muscles, congenital, 1 10.1
38 body mass index quantitative trait locus 11 10.1
39 body mass index quantitative trait locus 9 10.1
40 body mass index quantitative trait locus 8 10.1
41 body mass index quantitative trait locus 4 10.1
42 body mass index quantitative trait locus 10 10.1
43 body mass index quantitative trait locus 7 10.1
44 body mass index quantitative trait locus 12 10.1
45 body mass index quantitative trait locus 14 10.1
46 body mass index quantitative trait locus 18 10.1
47 body mass index quantitative trait locus 19 10.1
48 portal hypertension 10.1
49 yemenite deaf-blind hypopigmentation syndrome 10.1
50 dilated cardiomyopathy 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 141)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
4 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
5 otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000388
6 insulin resistance 58 31 hallmark (90%) Very frequent (99-80%) HP:0000855
7 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
8 cone/cone-rod dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000548
9 progressive sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000408
10 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
11 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
12 type ii diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0005978
13 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
14 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
15 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
16 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
17 hyperinsulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0000842
18 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
19 recurrent pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0006532
20 acanthosis nigricans 58 31 frequent (33%) Frequent (79-30%) HP:0000956
21 truncal obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001956
22 optic disc pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000543
23 hypergonadotropic hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000815
24 sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0003474
25 restrictive ventilatory defect 58 31 frequent (33%) Frequent (79-30%) HP:0002091
26 polyphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002591
27 thoracic scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002943
28 recurrent sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0011108
29 retinal pigment epithelial atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007722
30 hyperostosis frontalis interna 58 31 frequent (33%) Frequent (79-30%) HP:0004438
31 lumbar scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0004626
32 receptive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0010863
33 dorsocervical fat pad 58 31 frequent (33%) Frequent (79-30%) HP:0025383
34 chronic bronchitis 58 31 frequent (33%) Frequent (79-30%) HP:0004469
35 abnormal liver physiology 58 31 frequent (33%) Frequent (79-30%) HP:0031865
36 elevated gamma-glutamyltransferase level 31 frequent (33%) HP:0030948
37 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
38 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
39 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
40 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
41 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
42 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
43 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
44 hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001395
45 short toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0001831
46 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
47 polycystic ovaries 58 31 occasional (7.5%) Occasional (29-5%) HP:0000147
48 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
49 gingivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000230
50 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis

Cardiovascular Vascular:
hypertension
atherosclerosis

Skeletal Feet:
pes planus

Head And Neck Eyes:
blindness
pigmentary retinopathy
cone-rod dystrophy
photophobia (infancy)
nystagmus (infancy)
more
Cardiovascular Heart:
congestive heart failure
dilated cardiomyopathy (infancy)

Head And Neck Teeth:
gingivitis
discolored enamel

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

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

Growth Height:
short stature

Laboratory Abnormalities:
hypertriglyceridemia
hyperuricemia
hyperinsulinemia
low hdl-cholesterol
normal total cholesterol
more
Skin Nails Hair Hair:
alopecia

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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Alstrom Syndrome:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS5
2 growth/size/body region MP:0005378 10.29 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS5
3 cardiovascular system MP:0005385 10.26 BBS1 BBS4 BBS5 BBS7 CEP290 KIF3A
4 cellular MP:0005384 10.25 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS7
5 nervous system MP:0003631 10.25 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS5
6 adipose tissue MP:0005375 10.24 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS5
7 craniofacial MP:0005382 10.1 BBS1 BBS2 BBS4 BBS7 CEP290 IFT80
8 renal/urinary system MP:0005367 10.1 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS7
9 limbs/digits/tail MP:0005371 10.09 BBS1 BBS2 BBS5 BBS7 BBS9 IFT80
10 respiratory system MP:0005388 9.86 BBS1 BBS2 BBS4 CEP290 CROCC KIF3A
11 skeleton MP:0005390 9.81 BBS2 BBS4 BBS5 BBS9 CEP290 IFT80
12 pigmentation MP:0001186 9.77 ALMS1 BBS4 CEP290 LEP RPGR
13 vision/eye MP:0005391 9.47 ALMS1 BBS1 BBS10 BBS2 BBS4 BBS5
14 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 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum sulfate Approved Phase 2, Phase 3 10043-01-3
2
BCG vaccine Approved, Investigational Phase 2, Phase 3
3 Immunologic Factors Phase 2, Phase 3
4 Adjuvants, Immunologic Phase 2, Phase 3
5 Vaccines Phase 2, Phase 3
6 Pharmaceutical Solutions Phase 1, Phase 2
7 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Safety, Immunogenicity & Efficacy Study of Autoclaved Leishmania Major Plus BCG vs. BCG (Double Blind) or Placebo (Open), in Healthy High Risk Iranian Volunteers With no Response to Leishmanin Completed NCT00429715 Phase 2, Phase 3
2 A Randomized, Safety, Immunogenicity & Efficacy Study of Autoclaved Leishmania Major Plus BCG vs. BCG (Double Blind) or Placebo (Open), in Healthy High Risk Iranian Volunteers With Positive Response to Leishmanin (LST>0) Completed NCT00429780 Phase 2, Phase 3
3 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
4 An Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Terminated NCT03184584 Phase 2, Phase 3 PBI-4050
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 Phase 1/2 Trial of ALM-488 in Patients Undergoing Head & Neck Surgery Recruiting NCT04420689 Phase 1, Phase 2 ALM-488
7 Can the Sit-to-Stand Test be Used as a Screening Tool to Detect Sarcopenia in Community-dwelling Older People? Unknown status NCT03308903
8 COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique Recruiting NCT04461444
9 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
10 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
Heart, Kidney, Eye, Liver, Thyroid, Bone, Smooth Muscle

Publications for Alstrom Syndrome

Articles related to Alstrom Syndrome:

(show top 50) (show all 317)
# Title Authors PMID Year
1
Novel Alu retrotransposon insertion leading to Alström syndrome. 6 25 57
21877133 2012
2
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. 25 6 57
11941370 2002
3
Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families. 61 57 6
9409865 1997
4
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. 61 57 25
25864795 2015
5
Alström Syndrome: Mutation Spectrum of ALMS1. 61 6 25
25846608 2015
6
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. 6 25 61
25296579 2015
7
Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome. 6 25 61
22447358 2013
8
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. 57 6
17594715 2007
9
Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome. 57 6
17850632 2007
10
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. 6 61 25
16720663 2006
11
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. 57 6
11941369 2002
12
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. 57 25 61
11343329 2001
13
Homozygosity mapping at Alström syndrome to chromosome 2p. 6 57
9063741 1997
14
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. 6 25
29079548 2018
15
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia. 25 6
28432734 2017
16
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. 25 6
26010121 2016
17
Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study. 6 25
26104972 2015
18
Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy. 25 6
25706677 2015
19
Mutations in Alström protein impair terminal differentiation of cardiomyocytes. 25 6
24595103 2014
20
Modification of severe insulin resistant diabetes in response to lifestyle changes in Alström syndrome. 25 6
24462884 2014
21
Alström syndrome. 57 25
17940554 2007
22
The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. 25 6
15689433 2005
23
Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. 61 6
27665122 2017
24
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. 61 6
22773737 2012
25
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. 61 6
21157496 2011
26
The Alstrom syndrome: a new variant? 61 57
8181924 1994
27
Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child. 61 25
30600744 2019
28
Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial. 61 25
30477455 2018
29
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. 25 61
29193673 2018
30
Five novel ALMS1 gene mutations in six patients with Alström syndrome. 6
29715191 2018
31
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. 6
29588463 2018
32
A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico. 6
28402684 2017
33
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 6
26992781 2016
34
A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family. 6
26285675 2016
35
Genetic evaluation of patients with Alström syndrome in the Polish population. 6
26283575 2016
36
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 6
26969326 2016
37
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 6
26047050 2015
38
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. 6
24400638 2015
39
Histopathology of the human inner ear in Alström's syndrome. 6
26111748 2015
40
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. 61 25
24503146 2014
41
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 6
23847139 2013
42
Alström syndrome: cardiac magnetic resonance findings. 61 25
22498418 2013
43
Novel ALMS1 mutations in Chinese patients with Alström syndrome. 6
24049434 2013
44
Differences in the clinical spectrum of two adolescent male patients with Alström syndrome. 6
23188138 2013
45
Active human retrotransposons: variation and disease. 6
22406018 2012
46
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 6
22555271 2012
47
The progression from obesity to type 2 diabetes in Alström syndrome. 25 61
21722283 2012
48
Coronary artery disease in Alström syndrome. 25 61
21897446 2012
49
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families. 6
22876109 2012
50
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. 6
21901789 2011

Variations for Alstrom Syndrome

ClinVar genetic disease variations for Alstrom Syndrome:

6 (show top 50) (show all 1524)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALMS1 ALMS1, 19-BP INS Insertion Pathogenic 3969 GRCh37:
GRCh38:
2 ALMS1 NM_015120.4(ALMS1):c.8383C>T (p.Gln2795Ter) SNV Pathogenic 3970 rs193919338 GRCh37: 2:73717466-73717466
GRCh38: 2:73490339-73490339
3 ALMS1 NM_015120.4(ALMS1):c.10992G>A (p.Trp3664Ter) SNV Pathogenic 3974 rs193919339 GRCh37: 2:73799993-73799993
GRCh38: 2:73572866-73572866
4 ALMS1 NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter) SNV Pathogenic 3975 rs193919340 GRCh37: 2:73717247-73717247
GRCh38: 2:73490120-73490120
5 ALMS1 ALMS1, 333-BP ALU INS, EX16 Insertion Pathogenic 37246 GRCh37:
GRCh38:
6 ALMS1 NM_015120.4(ALMS1):c.10945G>T (p.Glu3649Ter) SNV Pathogenic 39748 rs397514576 GRCh37: 2:73799946-73799946
GRCh38: 2:73572819-73572819
7 ALMS1 NM_015120.4(ALMS1):c.1794_1801dup (p.Lys601delinsArgLeuTer) Duplication Pathogenic 92190 rs398122991 GRCh37: 2:73675442-73675443
GRCh38: 2:73448315-73448316
8 ALMS1 NM_015120.4(ALMS1):c.5926del (p.Glu1976fs) Deletion Pathogenic 92193 rs398122994 GRCh37: 2:73679577-73679577
GRCh38: 2:73452450-73452450
9 ALMS1 NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) SNV Pathogenic 92240 rs398122995 GRCh37: 2:73675551-73675551
GRCh38: 2:73448424-73448424
10 ALMS1 NM_015120.4(ALMS1):c.11116_11134del (p.Arg3706fs) Deletion Pathogenic 92191 rs398122992 GRCh37: 2:73800117-73800135
GRCh38: 2:73572990-73573008
11 ALMS1 NM_015120.4(ALMS1):c.4292_4293CA[2] (p.His1432fs) Microsatellite Pathogenic 92192 rs398122993 GRCh37: 2:73677943-73677946
GRCh38: 2:73450816-73450819
12 ALMS1 NM_015120.4(ALMS1):c.9433dup (p.Thr3145fs) Duplication Pathogenic 241016 rs878855003 GRCh37: 2:73718512-73718513
GRCh38: 2:73491385-73491386
13 ALMS1 NM_015120.4(ALMS1):c.363_366dup (p.Tyr123fs) Duplication Pathogenic 403953 rs753301358 GRCh37: 2:73635784-73635785
GRCh38: 2:73408656-73408657
14 ALMS1 NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs) Indel Pathogenic 403929 rs1060500034 GRCh37: 2:73786185-73786185
GRCh38: 2:73559058-73559058
15 ALMS1 NM_015120.4(ALMS1):c.5590C>T (p.Gln1864Ter) SNV Pathogenic 403915 rs769440001 GRCh37: 2:73679241-73679241
GRCh38: 2:73452114-73452114
16 ALMS1 NM_015120.4(ALMS1):c.7247C>A (p.Ser2416Ter) SNV Pathogenic 403943 rs1060500039 GRCh37: 2:73680898-73680898
GRCh38: 2:73453771-73453771
17 ALMS1 NM_015120.4(ALMS1):c.6571_6574del (p.Ser2191fs) Deletion Pathogenic 434133 rs1034630858 GRCh37: 2:73680220-73680223
GRCh38: 2:73453093-73453096
18 ALMS1 NM_015120.4(ALMS1):c.10885C>T (p.Arg3629Ter) SNV Pathogenic 434136 rs1473611414 GRCh37: 2:73799886-73799886
GRCh38: 2:73572759-73572759
19 ALMS1 NM_015120.4(ALMS1):c.3300_3301del (p.Lys1103fs) Deletion Pathogenic 438277 rs1553403653 GRCh37: 2:73676950-73676951
GRCh38: 2:73449823-73449824
20 ALMS1 NM_015120.4(ALMS1):c.9116del (p.Pro3039fs) Deletion Pathogenic 438278 rs1425609364 GRCh37: 2:73718198-73718198
GRCh38: 2:73491071-73491071
21 ALMS1 NM_015120.4(ALMS1):c.1819G>T (p.Gly607Ter) SNV Pathogenic 459853 rs1553403321 GRCh37: 2:73675470-73675470
GRCh38: 2:73448343-73448343
22 ALMS1 NM_015120.4(ALMS1):c.7304_7305del Microsatellite Pathogenic 459884 rs1246023978 GRCh37: 2:73680953-73680954
GRCh38: 2:73453826-73453827
23 ALMS1 NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter) SNV Pathogenic 459845 rs1275113273 GRCh37: 2:73651844-73651844
GRCh38: 2:73424716-73424716
24 ALMS1 NM_015120.4(ALMS1):c.4183C>T (p.Gln1395Ter) SNV Pathogenic 459866 rs969786171 GRCh37: 2:73677834-73677834
GRCh38: 2:73450707-73450707
25 ALMS1 NM_015120.4(ALMS1):c.11418_11422AATTA[1] (p.Lys3808fs) Microsatellite Pathogenic 459849 rs1553418609 GRCh37: 2:73800419-73800423
GRCh38: 2:73573292-73573296
26 ALMS1 NM_015120.4(ALMS1):c.4648dup (p.Arg1550fs) Duplication Pathogenic 437922 rs1553403917 GRCh37: 2:73678298-73678299
GRCh38: 2:73451171-73451172
27 ALMS1 NM_015120.4(ALMS1):c.563dup (p.Ser190fs) Duplication Pathogenic 529371 rs1439541639 GRCh37: 2:73646358-73646359
GRCh38: 2:73419230-73419231
28 ALMS1 NM_015120.4(ALMS1):c.8008C>T (p.Arg2670Ter) SNV Pathogenic 529386 rs549857076 GRCh37: 2:73717091-73717091
GRCh38: 2:73489964-73489964
29 ALMS1 NM_015120.4(ALMS1):c.6167_6168AT[3] (p.Leu2058fs) Microsatellite Pathogenic 529393 rs759603306 GRCh37: 2:73679817-73679818
GRCh38: 2:73452690-73452691
30 ALMS1 NM_015120.4(ALMS1):c.7674+1G>A SNV Pathogenic 545447 rs1417025395 GRCh37: 2:73682423-73682423
GRCh38: 2:73455296-73455296
31 ALMS1 NM_015120.4(ALMS1):c.11787G>A (p.Trp3929Ter) SNV Pathogenic 545448 rs1318520999 GRCh37: 2:73827920-73827920
GRCh38: 2:73600793-73600793
32 ALMS1 NM_015120.4(ALMS1):c.6375del (p.Pro2126fs) Deletion Pathogenic 529396 rs1553404220 GRCh37: 2:73680025-73680025
GRCh38: 2:73452898-73452898
33 ALMS1 NM_015120.4(ALMS1):c.4393C>T (p.Gln1465Ter) SNV Pathogenic 529397 rs904289501 GRCh37: 2:73678044-73678044
GRCh38: 2:73450917-73450917
34 ALMS1 NM_015120.4(ALMS1):c.4913_4916TAAA[1] (p.Asn1639fs) Microsatellite Pathogenic 550038 rs779366889 GRCh37: 2:73678564-73678567
GRCh38: 2:73451437-73451440
35 ALMS1 NM_015120.4(ALMS1):c.7375_7376del (p.Thr2458_Asp2459insTer) Deletion Pathogenic 550572 rs1225343345 GRCh37: 2:73681025-73681026
GRCh38: 2:73453898-73453899
36 ALMS1 NM_015120.4(ALMS1):c.5630dup (p.Gly1878fs) Duplication Pathogenic 550511 rs1553404109 GRCh37: 2:73679280-73679281
GRCh38: 2:73452153-73452154
37 ALMS1 NM_015120.4(ALMS1):c.11651_11652insGTTA (p.Asn3885fs) Insertion Pathogenic 550627 rs760264695 GRCh37: 2:73826628-73826629
GRCh38: 2:73599501-73599502
38 ALMS1 NM_015120.4(ALMS1):c.11316_11319del Microsatellite Pathogenic 550797 rs747272625 GRCh37: 2:73800315-73800318
GRCh38: 2:73573188-73573191
39 ALMS1 NM_015120.4(ALMS1):c.8394dup (p.Leu2799fs) Duplication Pathogenic 550848 rs1553409715 GRCh37: 2:73717472-73717473
GRCh38: 2:73490345-73490346
40 ALMS1 NM_015120.4(ALMS1):c.11385del (p.Phe3795fs) Deletion Pathogenic 551457 rs768759374 GRCh37: 2:73800383-73800383
GRCh38: 2:73573256-73573256
41 ALMS1 NM_015120.4(ALMS1):c.10829_10830AG[1] (p.Arg3611fs) Microsatellite Pathogenic 552413 rs755616266 GRCh37: 2:73799830-73799831
GRCh38: 2:73572703-73572704
42 ALMS1 NM_015120.4(ALMS1):c.10788_10789TG[1] (p.Val3597fs) Microsatellite Pathogenic 556135 rs1218465638 GRCh37: 2:73799789-73799790
GRCh38: 2:73572662-73572663
43 ALMS1 NM_015120.4(ALMS1):c.6590del (p.Lys2197fs) Deletion Pathogenic 557712 rs1553404283 GRCh37: 2:73680240-73680240
GRCh38: 2:73453113-73453113
44 ALMS1 NM_015120.4(ALMS1):c.6411_6412insCCTA (p.Ala2138fs) Insertion Pathogenic 559892 rs1553404233 GRCh37: 2:73680061-73680062
GRCh38: 2:73452934-73452935
45 ALMS1 NM_015120.4(ALMS1):c.7090del (p.Leu2364fs) Deletion Pathogenic 559893 rs1553404395 GRCh37: 2:73680741-73680741
GRCh38: 2:73453614-73453614
46 ALMS1 NM_015120.4(ALMS1):c.9422_9423del (p.Gln3141fs) Deletion Pathogenic 566263 rs1558667882 GRCh37: 2:73718505-73718506
GRCh38: 2:73491378-73491379
47 ALMS1 NM_015120.4(ALMS1):c.6850dup (p.Leu2284fs) Duplication Pathogenic 583303 rs1558651349 GRCh37: 2:73680497-73680498
GRCh38: 2:73453370-73453371
48 ALMS1 NM_015120.4(ALMS1):c.7316C>A (p.Ser2439Ter) SNV Pathogenic 560536 rs1558651680 GRCh37: 2:73680967-73680967
GRCh38: 2:73453840-73453840
49 ALMS1 NM_015120.4(ALMS1):c.11726del (p.Thr3909fs) Deletion Pathogenic 645734 rs1573053412 GRCh37: 2:73827859-73827859
GRCh38: 2:73600732-73600732
50 ALMS1 NM_015120.4(ALMS1):c.5735del (p.Pro1912fs) Deletion Pathogenic 646515 rs763048583 GRCh37: 2:73679385-73679385
GRCh38: 2:73452258-73452258

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 KIF3A IQCB1 IFT80 CEP290 BBS9
2
Show member pathways
11.53 BBS9 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 10.44 RPGRIP1L RPGR NEK9 LEP KIF3A IQCB1
2 cytosol GO:0005829 10.4 RPGRIP1L NEK9 LEP KIF3A IQCB1 CROCC
3 cell projection GO:0042995 10.25 RPGRIP1L RPGR KIF3A IFT80 CROCC CEP290
4 cytoskeleton GO:0005856 10.2 RPGRIP1L RPGR KIF3A IQCB1 IFT80 CROCC
5 ciliary basal body GO:0036064 10.02 RPGRIP1L RPGR IFT80 CEP290 BBS7 BBS5
6 centriole GO:0005814 10 KIF3A IQCB1 CROCC CEP295 CEP290 BBS4
7 microtubule organizing center GO:0005815 9.97 RPGRIP1L RPGR IQCB1 CROCC CEP295 CEP290
8 ciliary membrane GO:0060170 9.91 BBS9 BBS7 BBS5 BBS4 BBS2 BBS1
9 axoneme GO:0005930 9.89 RPGRIP1L KIF3A BBS7 BBS5 BBS1
10 centriolar satellite GO:0034451 9.84 CEP290 BBS9 BBS5 BBS4
11 ciliary transition zone GO:0035869 9.78 RPGRIP1L CEP290 BBS9 BBS4
12 centrosome GO:0005813 9.77 RPGRIP1L RPGR NEK9 KIF3A IQCB1 IFT80
13 photoreceptor outer segment GO:0001750 9.73 RPGR IQCB1 BBS7
14 BBSome GO:0034464 9.73 BBS9 BBS7 BBS5 BBS4 BBS2 BBS1
15 photoreceptor connecting cilium GO:0032391 9.72 RPGRIP1L IQCB1 CEP290
16 pericentriolar material GO:0000242 9.58 BBS9 BBS4
17 ciliary rootlet GO:0035253 9.57 RPGRIP1L CROCC
18 cilium GO:0005929 9.5 RPGRIP1L RPGR KIF3A IQCB1 IFT80 CROCC

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.06 KIF3A CEP290 BBS9 BBS7 BBS5 BBS4
2 response to stimulus GO:0050896 10.03 RPGR BBS9 BBS7 BBS5 BBS4 BBS2
3 visual perception GO:0007601 9.92 RPGR BBS9 BBS7 BBS5 BBS4 BBS2
4 ciliary basal body-plasma membrane docking GO:0097711 9.81 RPGRIP1L IQCB1 CEP290 ALMS1
5 protein localization GO:0008104 9.78 CROCC BBS7 BBS2
6 fat cell differentiation GO:0045444 9.78 BBS9 BBS7 BBS4 BBS2
7 heart looping GO:0001947 9.74 BBS7 BBS5 BBS4
8 photoreceptor cell maintenance GO:0045494 9.73 IQCB1 CROCC BBS4 BBS2 BBS10 BBS1
9 protein localization to cilium GO:0061512 9.71 BBS9 BBS4 BBS1
10 intracellular transport GO:0046907 9.7 BBS7 BBS5 BBS4
11 non-motile cilium assembly GO:1905515 9.7 RPGRIP1L IFT80 BBS7 BBS4 BBS2 BBS10
12 cell projection organization GO:0030030 9.7 RPGR KIF3A IQCB1 CROCC CEP290 BBS9
13 protein localization to organelle GO:0033365 9.67 CROCC BBS4 BBS2
14 melanosome transport GO:0032402 9.67 BBS7 BBS5 BBS4 BBS2
15 positive regulation of intracellular protein transport GO:0090316 9.63 KIF3A CEP290
16 brain morphogenesis GO:0048854 9.63 BBS4 BBS2
17 positive regulation of cilium assembly GO:0045724 9.62 CROCC BBS4
18 striatum development GO:0021756 9.62 BBS4 BBS2
19 centriole-centriole cohesion GO:0010457 9.61 KIF3A CROCC
20 regulation of centriole replication GO:0046599 9.6 CEP295 ALMS1
21 retinal rod cell development GO:0046548 9.59 RPGRIP1L BBS4
22 microtubule anchoring at centrosome GO:0034454 9.58 KIF3A BBS4
23 leptin-mediated signaling pathway GO:0033210 9.58 LEP BBS2
24 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.58 LEP BBS4 BBS2
25 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.56 BBS4 BBS2
26 bone mineralization involved in bone maturation GO:0035630 9.55 LEP IFT80
27 cilium assembly GO:0060271 9.4 RPGRIP1L RPGR KIF3A IQCB1 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....