MCID: ALS001
MIFTS: 52

Alstrom Syndrome malady

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

Aliases & Classifications for Alstrom Syndrome

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Aliases & Descriptions for Alstrom Syndrome:

Name: Alstrom Syndrome 52 11 23 48 24 25 70 12 50 39 13 68
Alström Syndrome 71 23 48 25 54
Alms 48 25 70
Alstrom's Syndrome 48 27
 
Alstrom-Hallgren Syndrome 25
Alstroem Syndrome 70
Alss 48

Characteristics:

Orphanet epidemiological data:

54
alström syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal; Age of death: adolescent,adult,early childhood,infantile,late childhood,young Adult

HPO:

64
alstrom syndrome:
Inheritance: autosomal recessive inheritance

GeneReviews:

23
Penetrance: no clinically unaffected individuals with two alms1 pathogenic variants in trans have been reported; thus, penetrance appears to be 100% [marshall et al 2011a]...


Classifications:



External Ids:

OMIM52 203800
Disease Ontology11 DOID:0050473
MeSH39 D056769
NCIt45 C84549
SNOMED-CT62 63702009
Orphanet54 ORPHA64
MESH via Orphanet40 D056769
UMLS via Orphanet69 C0268425
MedGen37 C0268425

Summaries for Alstrom Syndrome

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NIH Rare Diseases:48 Alström syndrome is a rare genetic disorder that affects many body systems. Symptoms develop gradually, beginning in infancy, and can be variable. In childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease (cardiomyopathy). Over time, diabetes mellitus, liver problems, and slowly progressive kidney dysfunction which can lead to kidney failure may develop. Alström syndrome is caused by mutations in the ALMS1 gene. It is inherited in an autosomal recessive manner. While there is no specific treatment for Alström syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan. Last updated: 6/22/2016

MalaCards based summary: Alstrom Syndrome, also known as alström syndrome, is related to obesity and lipodystrophy, familial partial, 2, and has symptoms including sensorineural hearing impairment, chorioretinal abnormality and truncal obesity. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1, Centrosome And Basal Body Associated Protein). Affiliated tissues include kidney, liver and heart, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and renal/urinary system.

Disease Ontology:11 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.

UniProtKB/Swiss-Prot:70 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.

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.

OMIM:52 Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to... (203800) more...

Wikipedia:71 Alström syndrome, also called Alstrom-Halgren Syndrome, is a rare genetic disorder caused by mutations... more...

GeneReviews for NBK1267

Related Diseases for Alstrom Syndrome

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



Diseases related to alstrom syndrome

Symptoms & Phenotypes for Alstrom Syndrome

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Symptoms by clinical synopsis from OMIM:

203800

Clinical features from OMIM:

203800

Human phenotypes related to Alstrom Syndrome:

 64 54 (show all 91)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment64 hallmark (90%) HP:0000407
2 chorioretinal abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0000532
3 truncal obesity64 54 hallmark (90%) Very frequent (99-80%) HP:0001956
4 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
5 otitis media64 typical (50%) HP:0000388
6 visual impairment64 typical (50%) HP:0000505
7 cataract64 54 typical (50%) Frequent (79-30%) HP:0000518
8 photophobia64 54 typical (50%) Frequent (79-30%) HP:0000613
9 nystagmus64 54 typical (50%) Frequent (79-30%) HP:0000639
10 hyperinsulinemia64 54 typical (50%) Frequent (79-30%) HP:0000842
11 insulin resistance64 54 typical (50%) Frequent (79-30%) HP:0000855
12 acanthosis nigricans64 54 typical (50%) Frequent (79-30%) HP:0000956
13 hypertrophic cardiomyopathy64 typical (50%) HP:0001639
14 pulmonary hypertension64 54 typical (50%) Frequent (79-30%) HP:0002092
15 respiratory insufficiency64 54 typical (50%) Frequent (79-30%) HP:0002093
16 asthma64 54 typical (50%) Frequent (79-30%) HP:0002099
17 recurrent respiratory infections64 54 typical (50%) Frequent (79-30%) HP:0002205
18 abnormality of lipid metabolism64 typical (50%) HP:0003119
19 type ii diabetes mellitus64 54 typical (50%) Frequent (79-30%) HP:0005978
20 abnormality of the testis64 occasional (7.5%) HP:0000035
21 abnormality of female external genitalia64 54 occasional (7.5%) Occasional (29-5%) HP:0000055
22 vesicoureteral reflux64 54 occasional (7.5%) Occasional (29-5%) HP:0000076
23 renal insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0000083
24 abnormality of the renal tubule64 occasional (7.5%) HP:0000091
25 nephrocalcinosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000121
26 decreased fertility64 occasional (7.5%) HP:0000144
27 polycystic ovaries64 54 occasional (7.5%) Occasional (29-5%) HP:0000147
28 round face64 54 occasional (7.5%) Occasional (29-5%) HP:0000311
29 deeply set eye64 54 occasional (7.5%) Occasional (29-5%) HP:0000490
30 autism64 54 occasional (7.5%) Occasional (29-5%) HP:0000717
31 obsessive-compulsive behavior64 54 occasional (7.5%) Occasional (29-5%) HP:0000722
32 abnormality of the urethra64 54 occasional (7.5%) Occasional (29-5%) HP:0000795
33 hypothyroidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000821
34 precocious puberty64 54 occasional (7.5%) Occasional (29-5%) HP:0000826
35 hypertrichosis64 occasional (7.5%) HP:0000998
36 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
37 cirrhosis64 54 occasional (7.5%) Occasional (29-5%) HP:0001394
38 hepatic steatosis64 54 occasional (7.5%) Occasional (29-5%) HP:0001397
39 portal hypertension64 54 occasional (7.5%) Occasional (29-5%) HP:0001409
40 alopecia64 54 occasional (7.5%) Occasional (29-5%) HP:0001596
41 congestive heart failure64 54 occasional (7.5%) Occasional (29-5%) HP:0001635
42 splenomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0001744
43 pulmonary fibrosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002206
44 hepatomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0002240
45 aplasia/hypoplasia of the cerebellum64 54 occasional (7.5%) Occasional (29-5%) HP:0007360
46 abnormality of adipose tissue64 54 occasional (7.5%) Occasional (29-5%) HP:0009124
47 cognitive impairment64 occasional (7.5%) HP:0100543
48 chronic hepatic failure64 54 occasional (7.5%) Occasional (29-5%) HP:0100626
49 renovascular hypertension64 54 occasional (7.5%) Occasional (29-5%) HP:0100817
50 glomerulopathy64 54 occasional (7.5%) Occasional (29-5%) HP:0100820
51 nephritis64 HP:0000123
52 abnormality of the teeth64 HP:0000164
53 gingivitis64 HP:0000230
54 progressive sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000408
55 subcapsular cataract64 HP:0000523
56 cone/cone-rod dystrophy64 HP:0000548
57 pigmentary retinopathy64 HP:0000580
58 blindness64 54 Frequent (79-30%) HP:0000618
59 gynecomastia64 HP:0000771
60 hypergonadotropic hypogonadism64 HP:0000815
61 hypertension64 HP:0000822
62 growth hormone deficiency64 HP:0000824
63 insulin-resistant diabetes mellitus64 HP:0000831
64 menstrual irregularities64 HP:0000858
65 diabetes insipidus64 HP:0000873
66 abnormality of the hand64 HP:0001155
67 global developmental delay64 54 Occasional (29-5%) HP:0001263
68 dilated cardiomyopathy64 54 Frequent (79-30%) HP:0001644
69 pes planus64 HP:0001763
70 tubulointerstitial nephritis64 54 Occasional (29-5%) HP:0001970
71 hyperuricemia64 HP:0002149
72 hypertriglyceridemia64 54 Frequent (79-30%) HP:0002155
73 atherosclerosis64 HP:0002621
74 scoliosis64 HP:0002650
75 kyphosis64 HP:0002808
76 elevated hepatic transaminases64 HP:0002910
77 hypoalphalipoproteinemia64 HP:0003233
78 hyperostosis frontalis interna64 HP:0004438
79 accelerated skeletal maturation64 HP:0005616
80 multinodular goiter64 HP:0005987
81 recurrent pneumonia64 HP:0006532
82 chronic active hepatitis64 HP:0200120
83 male hypogonadism54 Occasional (29-5%)
84 chronic otitis media54 Frequent (79-30%)
85 progressive visual loss54 Frequent (79-30%)
86 cone-rod dystrophy54 Very frequent (99-80%)
87 depression54 Occasional (29-5%)
88 intellectual disability54 Occasional (29-5%)
89 generalized hirsutism54 Occasional (29-5%)
90 decreased testicular size54 Occasional (29-5%)
91 death in early adulthood54 Frequent (79-30%)

UMLS symptoms related to Alstrom Syndrome:


hepatomegaly

GenomeRNAi Phenotypes related to Alstrom Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-358.8DLX3, NODAL, RPGR, TGFA

MGI Mouse Phenotypes related to Alstrom Syndrome according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.4ALMS1, BBS1, BBS2, INS, LEP, SLC4A4
2MP:00053818.2BBS2, INS, LEP, NODAL, SLC4A4, TGFA
3MP:00053808.0DCTN1, DLX3, INS, LBX2, LEP, NODAL
4MP:00107717.9BBS2, DLX3, INS, KCNJ11, LEP, SLC4A4
5MP:00053797.8ALMS1, BBS2, DLX3, INS, KCNJ11, LEP
6MP:00053757.8ALMS1, BBS1, BBS2, INS, KCNJ11, LEP
7MP:00053917.4ALMS1, BBS1, BBS2, INS, LEP, NODAL
8MP:00053857.2BBS1, DLX3, INS, KCNJ11, LEP, NODAL
9MP:00053786.6ALMS1, BBS1, BBS2, DLX3, INS, KCNJ11
10MP:00053766.4ALMS1, BBS1, BBS2, DCTN1, INS, KCNJ11
11MP:00036316.2BBS1, BBS2, DCTN1, INS, KCNJ11, LBX2

Drugs & Therapeutics for Alstrom Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts3868

Interventional clinical trials:

idNameStatusNCT IDPhase
1Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of ObesityNot yet recruitingNCT03013543Phase 2, Phase 3
2Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström SyndromeRecruitingNCT02739217Phase 2
3Clinical Study of a Single Ciliopathy: Alström SyndromeRecruitingNCT02890550
4Clinical and Molecular Investigations Into CiliopathiesActive, not recruitingNCT00068224

Search NIH Clinical Center for Alstrom Syndrome


Cochrane evidence based reviews: alstrom syndrome

Genetic Tests for Alstrom Syndrome

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Genetic tests related to Alstrom Syndrome:

id Genetic test Affiliating Genes
1 Alstrom Syndrome27 24 ALMS1

Anatomical Context for Alstrom Syndrome

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MalaCards organs/tissues related to Alstrom Syndrome:

36
Kidney, Liver, Heart, Eye, Testis, Ovary, Cerebellum

Publications for Alstrom Syndrome

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Articles related to Alstrom Syndrome:

(show all 28)
idTitleAuthorsYear
1
Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness. (27605748)
2016
2
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. (25864795)
2015
3
High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease. (26603037)
2015
4
Differential effects on I^-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. (26494903)
2015
5
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. (24503146)
2014
6
Presentation and course of diabetes in children and adolescents with Alstrom syndrome. (21518413)
2011
7
Alstrom syndrome: A rare genetic disorder and its anaesthetic significance. (20661355)
2010
8
Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype. (20108498)
2009
9
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879439)
2007
10
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879432)
2007
11
Alstrom syndrome (OMIM 203800): a case report and literature review. (18154657)
2007
12
Alstrom syndrome in four sibs from northern Jordan. (17146208)
2006
13
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. (16720663)
2006
14
Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. (16669965)
2006
15
Alstrom syndrome. (12038666)
2002
16
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. (11941369)
2002
17
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. (11941370)
2002
18
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. (11343329)
2001
19
Alstrom syndrome: a case report. (11732744)
2001
20
Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. (11386758)
2001
21
Alstrom syndrome in two siblings. (11265260)
2001
22
Alstrom syndrome with hepatic dysfunction: report of one case. (11100527)
2000
23
Acute lymphoblastic leukemia in one of two siblings with Alstrom syndrome. (11061078)
2000
24
Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs. (10882760)
2000
25
TGFA: exon-intron structure and evaluation as a candidate gene for Alstrom syndrome. (10066034)
1999
26
Human DCTN1: genomic structure and evaluation as a candidate for Alstrom syndrome. (9799602)
1998
27
The Alstrom syndrome: a new variant? (8181924)
1994
28
Alstrom syndrome. (1800358)
1991

Variations for Alstrom Syndrome

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Clinvar genetic disease variations for Alstrom Syndrome:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1ALMS1NM_015120.4(ALMS1): c.10483C> T (p.Gln3495Ter)SNVPathogenicrs772624348GRCh38Chr 2, 73572357: 73572357
2ALMS1NM_015120.4(ALMS1): c.4156dupA (p.Thr1386Asnfs)duplicationPathogenicrs797045228GRCh37Chr 2, 73677807: 73677807
3ALMS1NM_015120.4(ALMS1): c.5145T> G (p.Tyr1715Ter)SNVLikely pathogenicrs772136379GRCh38Chr 2, 73451669: 73451669
4ALMS1NM_015120.4(ALMS1): c.2822T> A (p.Leu941Ter)SNVPathogenicrs539612316GRCh38Chr 2, 73449346: 73449346
5ALMS1NM_015120.4(ALMS1): c.3019dupA (p.Arg1007Lysfs)duplicationPathogenicrs878854998GRCh38Chr 2, 73449543: 73449543
6ALMS1NM_015120.4(ALMS1): c.9433dupA (p.Thr3145Asnfs)duplicationPathogenicrs878855003GRCh37Chr 2, 73718516: 73718516
7ALMS1NM_015120.4(ALMS1): c.6436C> T (p.Arg2146Ter)SNV, CompoundHeterozygotePathogenicrs770558150GRCh37Chr 2, 73680087: 73680087
8ALMS1NM_015120.4(ALMS1): c.1868A> G (p.Tyr623Cys)SNVLikely pathogenicrs193922693GRCh37Chr 2, 73675519: 73675519
9ALMS1NM_015120.4: c.5625delAdeletionLikely pathogenicChr na, -1: -1
10ALMS1ALMS1, 333-BP ALU INS, EX16insertionPathogenicChr na, -1: -1
11ALMS1ALMS1, 19-BP INSinsertionPathogenicChr na, -1: -1
12ALMS1NM_015120.4(ALMS1): c.8383C> T (p.Gln2795Ter)SNVPathogenicrs193919338GRCh37Chr 2, 73717466: 73717466
13ALMS1NM_015120.4(ALMS1): c.10775delC (p.Thr3592Lysfs)deletionPathogenicrs387906312GRCh37Chr 2, 73799776: 73799776
14ALMS1NM_015120.4(ALMS1): c.2141_2142delCT (p.Ser714Tyrfs)deletionPathogenicrs387906313GRCh37Chr 2, 73675792: 73675793
15ALMS1NM_015120.4(ALMS1): c.10992G> A (p.Trp3664Ter)SNVPathogenicrs193919339GRCh37Chr 2, 73799993: 73799993
16ALMS1NM_015120.4(ALMS1): c.10945G> T (p.Glu3649Ter)SNVPathogenicrs397514576GRCh38Chr 2, 73572819: 73572819
17ALMS1NM_015120.4(ALMS1): c.8164C> T (p.Arg2722Ter)SNVPathogenicrs193919340GRCh37Chr 2, 73717247: 73717247
18ALMS1NM_015120.4(ALMS1): c.1794_1801dupGGCTTTGA (p.Lys601Argfs)duplicationPathogenicrs398122991GRCh37Chr 2, 73675445: 73675452
19ALMS1NM_015120.4(ALMS1): c.11116_11134del19 (p.Arg3706Leufs)deletionPathogenicrs398122992GRCh37Chr 2, 73800117: 73800135
20ALMS1NM_015120.4(ALMS1): c.4296_4299delCACA (p.His1432Glnfs)deletionPathogenicrs398122993GRCh37Chr 2, 73677947: 73677950
21ALMS1NM_015120.4(ALMS1): c.5926delG (p.Glu1976Serfs)deletionPathogenicrs398122994GRCh37Chr 2, 73679577: 73679577
22ALMS1NM_015120.4(ALMS1): c.1900C> T (p.Gln634Ter)SNVPathogenicrs398122995GRCh37Chr 2, 73675551: 73675551

Expression for genes affiliated with Alstrom Syndrome

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Search GEO for disease gene expression data for Alstrom Syndrome.

Pathways for genes affiliated with Alstrom Syndrome

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GO Terms for genes affiliated with Alstrom Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1BBSomeGO:003446410.2BBS1, BBS2
2ciliary basal bodyGO:00360649.1ALMS1, BBS1, BBS2, RPGR

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1inorganic anion transportGO:001569810.5SLC4A4, SLC4A5
2negative regulation of multicellular organism growthGO:004001510.4ALMS1, BBS2
3leptin-mediated signaling pathwayGO:003321010.4BBS2, LEP
4melanosome transportGO:003240210.4BBS2, DCTN1
5negative regulation of appetite by leptin-mediated signaling pathwayGO:003810810.4BBS2, LEP
6Golgi to plasma membrane protein transportGO:004300110.3BBS1, BBS2
7regulation of fat cell differentiationGO:004559810.3ALMS1, LEP
8positive regulation of insulin receptor signaling pathwayGO:004662810.1INS, LEP
9regulation of stress fiber assemblyGO:005149210.0ALMS1, ALMS1P1
10glucose homeostasisGO:004259310.0ALMS1, INS, LEP
11placenta developmentGO:000189010.0DLX3, LEP, NODAL
12cilium assemblyGO:00602719.8ALMS1, BBS1, BBS2, RPGR
13ER to Golgi vesicle-mediated transportGO:00068889.7DCTN1, INS, TGFA
14positive regulation of mitotic nuclear divisionGO:00458409.7INS, TGFA
15glucose metabolic processGO:00060069.7INS, KCNJ11, LEP

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

idNameGO IDScoreTop Affiliating Genes
1inorganic anion exchanger activityGO:000545210.4SLC4A4, SLC4A5
2sodium:bicarbonate symporter activityGO:000851010.0SLC4A4, SLC4A5
3RNA polymerase II repressing transcription factor bindingGO:00011039.8BBS1, BBS2
4growth factor activityGO:00080839.7LEP, NODAL, TGFA

Sources for Alstrom Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet