ALMS
MCID: ALS001
MIFTS: 60

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 75 53 25 59 74 37 29 13 55 6 44 15 40 72
Alms 57 53 25 74
Alström Syndrome 24 53 25
Alstrom's Syndrome 75 53
Alss 57 53
Alstrom-Hallgren Syndrome 25
Alstroem Syndrome 74

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive


HPO:

32
alstrom syndrome:
Clinical modifier death in early adulthood
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050473
OMIM 57 203800
KEGG 37 H00417
MeSH 44 D056769
NCIt 50 C84549
SNOMED-CT 68 63702009
MESH via Orphanet 45 D056769
UMLS via Orphanet 73 C0268425
Orphanet 59 ORPHA64
MedGen 42 C0268425
UMLS 72 C0268425

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 acanthosis nigricans and bardet-biedl syndrome 16. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1 Centrosome And Basal Body Associated Protein), and among its related pathways/superpathways is Organelle biogenesis and maintenance. The drugs alpha-MSH and Hormones have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and liver, 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 : 53 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)

KEGG : 37
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 : 74 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 : 75 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 159)
# Related Disease Score Top Affiliating Genes
1 acanthosis nigricans 30.7 LEP INS ALMS1
2 bardet-biedl syndrome 16 30.5 BBS1 ALMS1
3 fatty liver disease, nonalcoholic 1 30.2 LEP INS
4 bardet-biedl syndrome 1 30.1 LEP BBS2 BBS1
5 bardet-biedl syndrome 4 30.0 BBS2 BBS1
6 fundus dystrophy 29.6 RPGR BBS2 BBS1 ALMS1
7 hyperinsulinism 29.6 LEP KCNJ11 INS
8 acute insulin response 29.4 KCNJ11 INS
9 hyperglycemia 29.3 LEP KCNJ11 INS
10 retinitis pigmentosa 28.6 SLC4A4 RPGR DNAI1 DNAH5 BBS2 BBS1
11 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.3
12 ciliopathy 10.5
13 atrial standstill 1 10.4
14 sensorineural hearing loss 10.4
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
16 autosomal recessive disease 10.3
17 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.3 LEP INS
18 lipodystrophy, familial partial, type 1 10.3 LEP INS
19 growth hormone deficiency 10.3
20 complete generalized lipodystrophy 10.3 LEP INS
21 retinal degeneration 10.3
22 fatty liver disease 10.3
23 nonsyndromic retinitis pigmentosa 10.3 BBS2 BBS1
24 lipodystrophy, congenital generalized, type 1 10.3 LEP INS
25 abdominal obesity-metabolic syndrome 1 10.3 LEP INS
26 encephalopathy 10.3
27 scoliosis 10.2
28 neuroretinitis 10.2
29 retinitis 10.2
30 lipodystrophy, familial partial, type 2 10.2 LEP INS
31 bardet-biedl syndrome 6 10.2 BBS2 BBS1
32 yemenite deaf-blind hypopigmentation syndrome 10.2
33 dilated cardiomyopathy 10.2
34 bardet-biedl syndrome 8 10.2 BBS2 BBS1
35 portal hypertension 10.2
36 mckusick-kaufman syndrome 10.2 BBS2 BBS1
37 bardet-biedl syndrome 3 10.2 BBS2 BBS1
38 hypertriglyceridemia, familial 10.1
39 hypogonadism 10.1
40 bardet-biedl syndrome 10.1
41 hypogonadotropism 10.1
42 pathologic nystagmus 10.1
43 inherited retinal disorder 10.1
44 bardet-biedl syndrome 14 10.1 BBS2 BBS1
45 fetal macrosomia 10.1 LEP INS
46 varicose veins 10.1
47 non-alcoholic fatty liver disease 10.1
48 hypogonadotropic hypogonadism 10.1
49 esophageal varix 10.1
50 hyperandrogenism 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:

59 32 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 truncal obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001956
3 cone/cone-rod dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000548
4 progressive sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000408
5 abnormal chorioretinal morphology 32 hallmark (90%) HP:0000532
6 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
7 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
8 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
9 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
10 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
11 type ii diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0005978
12 blindness 59 32 frequent (33%) Frequent (79-30%) HP:0000618
13 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
14 hypertriglyceridemia 59 32 frequent (33%) Frequent (79-30%) HP:0002155
15 pulmonary arterial hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0002092
16 acanthosis nigricans 59 32 frequent (33%) Frequent (79-30%) HP:0000956
17 progressive visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000529
18 hyperinsulinemia 59 32 frequent (33%) Frequent (79-30%) HP:0000842
19 dilated cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001644
20 asthma 59 32 frequent (33%) Frequent (79-30%) HP:0002099
21 insulin resistance 59 32 frequent (33%) Frequent (79-30%) HP:0000855
22 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
23 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
24 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
25 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
26 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
27 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
28 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
29 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
30 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
31 portal hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001409
32 pulmonary fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002206
33 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
34 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
35 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
36 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
37 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
38 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
39 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
40 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
41 male hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000026
42 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
43 decreased testicular size 59 32 occasional (7.5%) Occasional (29-5%) HP:0008734
44 obsessive-compulsive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000722
45 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
46 polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0000147
47 round face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000311
48 nephrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000121
49 renovascular hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0100817
50 abnormality of the urethra 59 32 occasional (7.5%) Occasional (29-5%) HP:0000795

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism
diabetes insipidus
menstrual irregularities
growth hormone deficiency
multinodular goiter
more
Skeletal Spine:
scoliosis
kyphosis

Skeletal Feet:
pes planus

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

Head And Neck Teeth:
gingivitis
discolored enamel

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

Cardiovascular Vascular:
hypertension
atherosclerosis

Abdomen Liver:
hepatomegaly
hepatic steatosis
hepatitis, chronic active

Growth Height:
short stature

Laboratory Abnormalities:
hypertriglyceridemia
hyperuricemia
hyperinsulinemia
low hdl-cholesterol
normal total cholesterol
more
Cardiovascular Heart:
congestive heart failure
dilated cardiomyopathy (infancy)

Skin Nails Hair Hair:
alopecia

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 BBS1 DNAH5 DNAI1 INS KCNJ11 LEP
2 nervous system MP:0003631 10.03 ALMS1 BBS1 BBS2 DNAH5 DNAI1 HDAC6
3 growth/size/body region MP:0005378 10.02 ALMS1 BBS1 BBS2 DNAH5 DNAI1 HDAC6
4 adipose tissue MP:0005375 9.91 ALMS1 BBS1 BBS2 INS KCNJ11 LEP
5 endocrine/exocrine gland MP:0005379 9.91 ALMS1 BBS2 DNAH5 INS KCNJ11 LEP
6 renal/urinary system MP:0005367 9.56 ALMS1 BBS1 BBS2 DNAH5 INS LEP
7 pigmentation MP:0001186 9.46 ALMS1 KCNJ11 LEP RPGR
8 vision/eye MP:0005391 9.17 ALMS1 BBS1 BBS2 INS LEP RPGR

Drugs & Therapeutics for Alstrom Syndrome

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


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

41
Kidney, Heart, Liver, Skin, Lung, Eye, Bone

Publications for Alstrom Syndrome

Articles related to Alstrom Syndrome:

(show top 50) (show all 272)
# Title Authors PMID Year
1
Novel Alu retrotransposon insertion leading to Alström syndrome. 4 8 71
21877133 2012
2
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. 4 8 71
11941370 2002
3
Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families. 38 8 71
9409865 1997
4
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. 38 4 8
25864795 2015
5
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. 8 71
17594715 2007
6
Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome. 8 71
17850632 2007
7
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. 8 71
11941369 2002
8
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. 38 4 8
11343329 2001
9
Homozygosity mapping at Alström syndrome to chromosome 2p. 8 71
9063741 1997
10
Alström syndrome. 4 8
17940554 2007
11
The Alstrom syndrome: a new variant? 38 8
8181924 1994
12
Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child. 38 4
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. 38 4
30477455 2018
14
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. 38 4
29193673 2018
15
Alström Syndrome: Mutation Spectrum of ALMS1. 38 4
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. 38 4
25296579 2015
17
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. 38 4
24503146 2014
18
Alström syndrome: cardiac magnetic resonance findings. 38 4
22498418 2013
19
Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome. 38 4
22447358 2013
20
The progression from obesity to type 2 diabetes in Alström syndrome. 38 4
21722283 2012
21
Coronary artery disease in Alström syndrome. 38 4
21897446 2012
22
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. 71
21901789 2011
23
Clinical utility gene card for: Alström syndrome. 71
21522186 2011
24
Presentation and course of diabetes in children and adolescents with Alstrom syndrome. 38 4
21518413 2011
25
Alström syndrome and cecal volvulus in 2 siblings. 38 4
19440062 2009
26
Caloric restriction in Alström syndrome prevents hyperinsulinemia. 8
19283853 2009
27
Characterization of the IGF system in 15 patients with Alström syndrome. 38 4
17223998 2007
28
A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. 8
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. 38 4
16720663 2006
30
Alms1-disrupted mice recapitulate human Alström syndrome. 8
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. 38 4
15166753 2004
32
Alström Syndrome 71
20301444 2003
33
Alström syndrome: further evidence for linkage to human chromosome 2p13. 8
10598815 1999
34
TGFA: exon-intron structure and evaluation as a candidate gene for Alström syndrome. 8
10066034 1999
35
Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family. 8
9921899 1998
36
Alström syndrome. Report of 22 cases and literature review. 8
9663233 1998
37
Hepatic dysfunction in two sibs with Alström syndrome: case report and review of the literature. 8
9066877 1997
38
Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy. 8
8636816 1996
39
A case of Alström syndrome associated with diabetes insipidus. 8
8556827 1995
40
Longitudinal study of the early electroretinographic changes in Alström's syndrome. 8
8488920 1993
41
Growth hormone deficiency in two siblings with Alström syndrome. 8
8418611 1993
42
Hepatic dysfunction in Alström disease. 8
1746604 1991
43
Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction. 8
2231654 1990
44
Late onset dilated cardiomyopathy in a unique familial syndrome of hypogonadism and metabolic abnormalities. 8
3687707 1987
45
Ophthalmologic and systemic manifestations of Alström's disease. 8
3766665 1986
46
Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor. 8
2578425 1985
47
The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. 8
4689172 1973
48
Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities. 8
5824738 1969
49
Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy. 4
30484169 2019
50
ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits. 4
30421101 2019

Variations for Alstrom Syndrome

ClinVar genetic disease variations for Alstrom Syndrome:

6 (show top 50) (show all 1097)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALMS1 NM_015120.4(ALMS1): c.7247C> A (p.Ser2416Ter) single nucleotide variant Pathogenic rs1060500039 2:73680898-73680898 2:73453771-73453771
2 ALMS1 NM_015120.4(ALMS1): c.10303delinsGA (p.Gln3435fs) indel Pathogenic rs1060500034 2:73786185-73786185 2:73559058-73559058
3 ALMS1 NM_015120.4(ALMS1): c.363_366dup (p.Tyr123fs) duplication Pathogenic rs753301358 2:73635785-73635788 2:73408657-73408660
4 ALMS1 NM_015120.4(ALMS1): c.5590C> T (p.Gln1864Ter) single nucleotide variant Pathogenic rs769440001 2:73679241-73679241 2:73452114-73452114
5 ALMS1 NM_015120.4(ALMS1): c.6571_6574del (p.Ser2191fs) deletion Pathogenic rs1034630858 2:73680222-73680225 2:73453095-73453098
6 ALMS1 NM_015120.4(ALMS1): c.10885C> T (p.Arg3629Ter) single nucleotide variant Pathogenic rs1473611414 2:73799886-73799886 2:73572759-73572759
7 ALMS1 NM_015120.4(ALMS1): c.4648dup (p.Arg1550fs) duplication Pathogenic rs1553403917 2:73678299-73678299 2:73451172-73451172
8 ALMS1 NM_015120.4(ALMS1): c.3300_3301del (p.Lys1103fs) deletion Pathogenic rs1553403653 2:73676951-73676952 2:73449824-73449825
9 ALMS1 NM_015120.4(ALMS1): c.9116del (p.Pro3039fs) deletion Pathogenic rs1425609364 2:73718199-73718199 2:73491072-73491072
10 ALMS1 NM_015120.4(ALMS1): c.4183C> T (p.Gln1395Ter) single nucleotide variant Pathogenic rs969786171 2:73677834-73677834 2:73450707-73450707
11 ALMS1 NM_015120.4(ALMS1): c.11418_11422AATTA[1] (p.Lys3808fs) short repeat Pathogenic rs1553418609 2:73800424-73800428 2:73573297-73573301
12 ALMS1 NM_015120.4(ALMS1): c.1054C> T (p.Arg352Ter) single nucleotide variant Pathogenic rs1275113273 2:73651844-73651844 2:73424716-73424716
13 ALMS1 NM_015120.4(ALMS1): c.7302_7303AG[1] (p.Glu2435fs) short repeat Pathogenic rs1246023978 2:73680955-73680956 2:73453828-73453829
14 ALMS1 NM_015120.4(ALMS1): c.1819G> T (p.Gly607Ter) single nucleotide variant Pathogenic rs1553403321 2:73675470-73675470 2:73448343-73448343
15 ALMS1 NM_015120.4(ALMS1): c.6167_6168AT[3] (p.Leu2058fs) short repeat Pathogenic rs759603306 2:73679820-73679821 2:73452693-73452694
16 ALMS1 NM_015120.4(ALMS1): c.8008C> T (p.Arg2670Ter) single nucleotide variant Pathogenic rs549857076 2:73717091-73717091 2:73489964-73489964
17 ALMS1 NM_015120.4(ALMS1): c.4393C> T (p.Gln1465Ter) single nucleotide variant Pathogenic rs904289501 2:73678044-73678044 2:73450917-73450917
18 ALMS1 NM_015120.4(ALMS1): c.6375del (p.Pro2126fs) deletion Pathogenic rs1553404220 2:73680026-73680026 2:73452899-73452899
19 ALMS1 NM_015120.4(ALMS1): c.7674+1G> A single nucleotide variant Pathogenic rs1417025395 2:73682423-73682423 2:73455296-73455296
20 ALMS1 NM_015120.4(ALMS1): c.11787G> A (p.Trp3929Ter) single nucleotide variant Pathogenic rs1318520999 2:73827920-73827920 2:73600793-73600793
21 ALMS1 NM_015120.4(ALMS1): c.563dup (p.Ser190fs) duplication Pathogenic rs1439541639 2:73646360-73646360 2:73419232-73419232
22 ALMS1 NM_015120.4(ALMS1): c.7375_7376del (p.Thr2458_Asp2459insTer) deletion Pathogenic rs1225343345 2:73681024-73681026 2:73453899-73453900
23 ALMS1 NM_015120.4(ALMS1): c.4913_4916TAAA[1] (p.Asn1639fs) short repeat Pathogenic rs779366889 2:73678563-73678567 2:73451441-73451444
24 ALMS1 NM_015120.4(ALMS1): c.5630dup (p.Gly1878fs) duplication Pathogenic rs1553404109 2:73679280-73679280 2:73452154-73452154
25 ALMS1 NM_015120.4(ALMS1): c.6590del (p.Lys2197fs) deletion Pathogenic rs1553404283 2:73680239-73680240 2:73453114-73453114
26 ALMS1 NM_015120.4(ALMS1): c.8394dup (p.Leu2799fs) duplication Pathogenic rs1553409715 2:73717472-73717472 2:73490350-73490350
27 ALMS1 NM_015120.4(ALMS1): c.10788_10789TG[1] (p.Val3597fs) short repeat Pathogenic rs1218465638 2:73799788-73799790 2:73572664-73572665
28 ALMS1 NM_015120.4(ALMS1): c.10829_10830AG[1] (p.Arg3611fs) short repeat Pathogenic rs755616266 2:73799829-73799831 2:73572705-73572706
29 ALMS1 NM_015120.4(ALMS1): c.11385del (p.Phe3795fs) deletion Pathogenic rs768759374 2:73800382-73800383 2:73573259-73573259
30 ALMS1 NM_015120.4(ALMS1): c.11616_11617CT[1] (p.Ser3873fs) short repeat Pathogenic rs1476205467 2:73826592-73826594 2:73599468-73599469
31 ALMS1 NM_015120.4(ALMS1): c.11314_11315AG[1] (p.Glu3773fs) short repeat Pathogenic rs747272625 2:73800314-73800318 2:73573190-73573193
32 ALMS1 NM_015120.4(ALMS1): c.11651_11652insGTTA (p.Asn3885fs) insertion Pathogenic rs760264695 2:73826628-73826628 2:73599501-73599502
33 ALMS1 NM_015120.4(ALMS1): c.6411_6412insCCTA (p.Ala2138fs) insertion Pathogenic rs1553404233 2:73680062-73680063 2:73452935-73452936
34 ALMS1 NM_015120.4(ALMS1): c.7090del (p.Leu2364fs) deletion Pathogenic rs1553404395 2:73680741-73680741 2:73453614-73453614
35 ALMS1 NM_015120.4(ALMS1): c.7316C> A (p.Ser2439Ter) single nucleotide variant Pathogenic 2:73680967-73680967 2:73453840-73453840
36 ALMS1 ALMS1, 19-BP INS insertion Pathogenic
37 ALMS1 NM_015120.4(ALMS1): c.8383C> T (p.Gln2795Ter) single nucleotide variant Pathogenic rs193919338 2:73717466-73717466 2:73490339-73490339
38 ALMS1 NM_015120.4(ALMS1): c.10775del (p.Thr3592fs) deletion Pathogenic rs387906312 2:73799776-73799776 2:73572649-73572649
39 ALMS1 NM_015120.4(ALMS1): c.2137_2138CT[2] (p.Ser714fs) short repeat Pathogenic rs387906313 2:73675792-73675793 2:73448665-73448666
40 ALMS1 NM_015120.4(ALMS1): c.10992G> A (p.Trp3664Ter) single nucleotide variant Pathogenic rs193919339 2:73799993-73799993 2:73572866-73572866
41 ALMS1 NM_015120.4(ALMS1): c.8164C> T (p.Arg2722Ter) single nucleotide variant Pathogenic rs193919340 2:73717247-73717247 2:73490120-73490120
42 ALMS1 ALMS1, 333-BP ALU INS, EX16 insertion Pathogenic
43 ALMS1 NM_015120.4(ALMS1): c.10945G> T (p.Glu3649Ter) single nucleotide variant Pathogenic rs397514576 2:73799946-73799946 2:73572819-73572819
44 ALMS1 NM_015120.4(ALMS1): c.1794_1801dup (p.Lys601delinsArgLeuTer) duplication Pathogenic rs398122991 2:73675445-73675452 2:73448318-73448325
45 ALMS1 NM_015120.4(ALMS1): c.11116_11134del (p.Arg3706fs) deletion Pathogenic rs398122992 2:73800117-73800135 2:73572990-73573008
46 ALMS1 NM_015120.4(ALMS1): c.4292_4293CA[2] (p.His1432fs) short repeat Pathogenic rs398122993 2:73677947-73677950 2:73450820-73450823
47 ALMS1 NM_015120.4(ALMS1): c.5926del (p.Glu1976fs) deletion Pathogenic rs398122994 2:73679577-73679577 2:73452450-73452450
48 ALMS1 NM_015120.4(ALMS1): c.1900C> T (p.Gln634Ter) single nucleotide variant Pathogenic rs398122995 2:73675551-73675551 2:73448424-73448424
49 ALMS1 NM_015120.4(ALMS1): c.4156dup (p.Thr1386fs) duplication Pathogenic rs797045228 2:73677807-73677807 2:73450680-73450680
50 ALMS1 NM_015120.4(ALMS1): c.6436C> T (p.Arg2146Ter) single nucleotide variant Pathogenic rs770558150 2:73680087-73680087 2:73452960-73452960

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
11.65 HDAC6 BBS2 BBS1 ALMS1

GO Terms for Alstrom Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.88 RPGR DNAI1 DNAH5 BBS2 BBS1 ALMS1
2 centrosome GO:0005813 9.76 RPGR DNAI1 BBS1 ALMS1
3 microtubule organizing center GO:0005815 9.73 RPGR BBS2 BBS1 ALMS1
4 ciliary basal body GO:0036064 9.54 RPGR BBS2 BBS1
5 cell projection GO:0042995 9.5 RPGR HDAC6 DNAI1 DNAH5 BBS2 BBS1
6 dynein complex GO:0030286 9.33 HDAC6 DNAI1 DNAH5
7 outer dynein arm GO:0036157 9.32 DNAI1 DNAH5
8 BBSome GO:0034464 9.26 BBS2 BBS1
9 cilium GO:0005929 9.1 RPGR DNAI1 DNAH5 BBS2 BBS1 ALMS1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.72 RPGR BBS2 BBS1
2 anion transmembrane transport GO:0098656 9.56 SLC4A5 SLC4A4
3 cilium movement GO:0003341 9.54 DNAI1 DNAH5
4 inorganic anion transport GO:0015698 9.52 SLC4A5 SLC4A4
5 Golgi to plasma membrane protein transport GO:0043001 9.51 BBS2 BBS1
6 regulation of intracellular pH GO:0051453 9.49 SLC4A5 SLC4A4
7 negative regulation of proteolysis GO:0045861 9.48 INS HDAC6
8 anion transport GO:0006820 9.46 SLC4A5 SLC4A4
9 cell projection organization GO:0030030 9.46 RPGR DNAI1 BBS2 BBS1
10 regulation of fat cell differentiation GO:0045598 9.43 LEP HDAC6
11 glucose metabolic process GO:0006006 9.43 LEP KCNJ11 INS
12 positive regulation of insulin receptor signaling pathway GO:0046628 9.4 LEP INS
13 outer dynein arm assembly GO:0036158 9.37 DNAI1 DNAH5
14 leptin-mediated signaling pathway GO:0033210 9.32 LEP BBS2
15 cilium assembly GO:0060271 9.02 RPGR HDAC6 DNAH5 BBS2 BBS1
16 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 8.96 LEP BBS2

Molecular functions related to Alstrom Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein light chain binding GO:0045503 9.26 DNAI1 DNAH5
2 inorganic anion exchanger activity GO:0005452 9.16 SLC4A5 SLC4A4
3 anion transmembrane transporter activity GO:0008509 8.96 SLC4A5 SLC4A4
4 sodium:bicarbonate symporter activity GO:0008510 8.62 SLC4A5 SLC4A4

Sources for Alstrom Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
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73 UMLS via Orphanet
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