MCID: FML052
MIFTS: 53

Familial Cold Autoinflammatory Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Blood diseases, Immune diseases categories

Summaries for Familial Cold Autoinflammatory Syndrome

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NIH Rare Diseases:41 Familial cold autoinflammatory syndrome is a type of periodic fever syndrome. signs and symptoms may include include an itchy or burning rash; fever; and joint pain which are triggered by exposure to cold temperatures. it is inherited in an autosomal dominant manner and can be caused by mutations in the nlrp3 or nlrp12 genes. management of this condition involves avoiding exposure to cold temperatures and treatment with specific types of medications. last updated: 10/30/2013

MalaCards based summary: Familial Cold Autoinflammatory Syndrome, also known as familial cold urticaria, is related to familial cold autoinflammatory syndrome 2 and urticaria, and has symptoms including hyperhidrosis, pruritus and urticaria. An important gene associated with Familial Cold Autoinflammatory Syndrome is NLRP3 (NLR family, pyrin domain containing 3), and among its related pathways are TRAF Pathway and Th17 Differentiation. The compounds acetyl-tyr-val-ala-asp-cho and mevalonate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related mouse phenotypes are renal/urinary system and integument.

Genetics Home Reference:21 Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life.

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome

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Sources:
41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 61UMLS via Orphanet
See all sources

Familial Cold Autoinflammatory Syndrome, Aliases & Descriptions:

Name: Familial Cold Autoinflammatory Syndrome 41 21 47
Familial Cold Urticaria 41 21 47 22 60
Cold Hypersensitivity 21 43 60
Fcas 41 21 47
 
Fcu 41 21 47
Fcas1 41 47
Familial Cold-Induced Autoinflammatory Syndrome 21
Familial Polymorphous Cold Eruption 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
familial cold urticaria:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy; Age of death: normal life expectancy


External Ids:

Orphanet47 47045
UMLS via Orphanet61 C0343068

Related Diseases for Familial Cold Autoinflammatory Syndrome

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Diseases in the Familial Cold Autoinflammatory Syndrome family:

Familial Cold Autoinflammatory Syndrome 4 Familial Cold Autoinflammatory Syndrome 3
Familial Cold Autoinflammatory Syndrome 2

Diseases related to Familial Cold Autoinflammatory Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1familial cold autoinflammatory syndrome 231.5LRP12, NLRP12
2urticaria30.6NLRP3, CASP1, IL1RAPL2
3amyloidosis30.6MEFV, IL1RAPL2, SAA1
4myositis30.2IL1RAPL2, CASP1
5muckle-wells syndrome29.5MEFV, IL1R1, IL1RAPL2, IL1B, CASP1, NLRP3
6cinca syndrome29.1NLRP3, CASP1, IL1B, IL1RAPL2, IL1R1, MEFV
7familial cold autoinflammatory syndrome 310.7
8familial cold-induced inflammatory syndrome 110.6
9familial cold autoinflammatory syndrome 410.5
10palindromic rheumatism10.5MEFV
11nlrp12-associated hereditary periodic fever syndrome10.5
12schnitzler syndrome10.4IL1R1
13pyoderma gangrenosum10.4NLRP3, MEFV
14familial mediterranean fever, ar10.3NLRP3, MEFV
15keratitis10.3
16cryopyrin-associated periodic syndrome10.3
17wells syndrome10.3
18aseptic meningitis10.3IL1R1, NLRP3
19amyloidosis, familial visceral10.3MEFV, SAA1
20secondary amyloidosis10.3SAA1, MEFV
21brucellosis10.3MEFV, SAA1
22adult-onset still's disease10.2IL1RAPL2, IL1R1
23interstitial lung disease10.2IL1RAPL2, IL1R1
24rheumatic disease10.2IL1R1, MEFV
25juvenile rheumatoid arthritis10.2IL1R1, IL1RAPL2
26spondyloarthropathy 110.2IL1RAPL2, IL1R1
27non-suppurative otitis media10.1CASP1, SAA1
28graft-versus-host disease, protection against10.1IL1RAPL2, IL1R1
29thymoma10.1IL1RAPL2, IL1R1
30gout10.1IL1B, NLRP3
31pleurisy10.1MEFV, IL1B
32inclusion body myositis10.1
33mononeuropathy10.1
34vasculitis10.1IL1RAPL2, MEFV
35iga glomerulonephritis10.1IL1R1, MEFV
36bacterial vaginosis10.1IL1R1, IL1B
37peritonitis10.0MEFV, IL1B
38chorioamnionitis10.0IL1B, IL1R1
39psoriatic arthritis10.0IL1RAPL2, IL1B
40blau syndrome10.0MEFV, NLRP3, IL1B
41acute pancreatitis10.0CASP1, IL1RAPL2, IL1R1
42myocardial infarction9.9CASP1, IL1RAPL2, SAA1
43arthropathy9.9IL1RAPL2, NLRP3, IL1B
44periodontal disease9.9NLRP3, IL1B, IL1RAPL2
45synovitis9.9IL1R1, IL1B
46nephritis9.9IL1R1, IL1RAPL2
47shigellosis9.9IL1R1, IL1B, CASP1
48malaria9.9IL1RAPL2, IL1R1, IL1B
49periodontitis9.9IL1B, IL1RAPL2, IL1R1
50monocytic leukemia9.9CASP1, IL1B, IL1R1

Graphical network of the top 20 diseases related to Familial Cold Autoinflammatory Syndrome:



Diseases related to familial cold autoinflammatory syndrome

Symptoms for Familial Cold Autoinflammatory Syndrome

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Symptoms:

 47 (show all 17)
  • hyperhidrosis/increased sweating
  • urticaria
  • follicular/erythematous/edematous papules/milium
  • pruritus/itching
  • purpura/petichiae
  • myalgia/muscular pain
  • arthritis/synovitis/synovial proliferation
  • fever/chilling
  • asthenia/fatigue/weakness
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • facial pain/cephalalgia/migraine
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • sensorineural deafness/hearing loss
  • articular/joint pain/arthralgia
  • autosomal dominant inheritance
  • thirst
  • dehydration/hydroelectrolytic loss

HPO human phenotypes related to Familial Cold Autoinflammatory Syndrome:

(show all 13)
id Description Frequency HPO Source Accession
1 hyperhidrosis hallmark (90%) HP:0000975
2 pruritus hallmark (90%) HP:0000989
3 urticaria hallmark (90%) HP:0001025
4 arthritis hallmark (90%) HP:0001369
5 subcutaneous hemorrhage hallmark (90%) HP:0001933
6 myalgia hallmark (90%) HP:0003326
7 abnormality of temperature regulation hallmark (90%) HP:0004370
8 nausea and vomiting typical (50%) HP:0002017
9 migraine typical (50%) HP:0002076
10 sensorineural hearing impairment occasional (7.5%) HP:0000407
11 dehydration occasional (7.5%) HP:0001944
12 arthralgia occasional (7.5%) HP:0002829
13 inflammatory abnormality of the eye occasional (7.5%) HP:0100533

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome

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Drug clinical trials:

Search ClinicalTrials for Familial Cold Autoinflammatory Syndrome

Search NIH Clinical Center for Familial Cold Autoinflammatory Syndrome

Genetic Tests for Familial Cold Autoinflammatory Syndrome

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Genetic tests related to Familial Cold Autoinflammatory Syndrome:

id Genetic test Affiliating Genes
1 Familial Cold Urticaria22

Anatomical Context for Familial Cold Autoinflammatory Syndrome

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MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome:

31
Skin, Eye, Bone, Monocytes

Animal Models for Familial Cold Autoinflammatory Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Familial Cold Autoinflammatory Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6IL1R1, PLCG2, CASP1, NLRP3
2MP:00107718.5MEFV, IL1R1, PLCG2, CASP1, NLRP3
3MP:00053908.4NLRP3, PLCG2, IL1B, IL1R1, MEFV
4MP:00020068.3IL1R1, IL1B, PLCG2, CASP1, NLRP12
5MP:00053848.1MEFV, IL1R1, PLCG2, CASP1, NLRP12, NLRP3
6MP:00107687.9NLRP3, CASP1, PLCG2, IL1B, IL1R1, MEFV
7MP:00053977.7MEFV, IL1R1, IL1B, PLCG2, CASP1, NLRP12
8MP:00053877.7MEFV, IL1R1, IL1B, PLCG2, CASP1, NLRP12
9MP:00053767.3NLRP3, SAA1, MEFV, IL1R1, IL1B, PLCG2

Publications for Familial Cold Autoinflammatory Syndrome

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Articles related to Familial Cold Autoinflammatory Syndrome:

(show all 20)
idTitleAuthorsYear
1
First report of keratitis in familial cold autoinflammatory syndrome. (24862780)
2014
2
"Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies. (21833523)
2012
3
Interleukin-17 expression in the urticarial rash of familial cold autoinflammatory syndrome: a case report. (20716212)
2010
4
Fever from the cold--familial cold autoinflammatory syndrome]. (19385344)
2009
5
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. (18174231)
2008
6
Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. (18258152)
2008
7
Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra. (18189199)
2008
8
A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome. (18668591)
2008
9
A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome. (17333269)
2008
10
Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist. (17336710)
2007
11
Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. (17300660)
2007
12
Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. (17320940)
2007
13
A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin. (17284928)
2007
14
Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease. (16981288)
2006
15
IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients. (16081838)
2005
16
Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. (15541451)
2004
17
A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation. (15149524)
2004
18
A large kindred with familial cold autoinflammatory syndrome. (12602672)
2003
19
Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. (11590390)
2001
20
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. (11687797)
2001

Variations for Familial Cold Autoinflammatory Syndrome

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Clinvar genetic disease variations for Familial Cold Autoinflammatory Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NLRP3NM_004895.4(NLRP3): c.1322C> T (p.Ala441Val)single nucleotide variantPathogenicrs121908146GRCh37Chr 1, 247588067: 247588067
2NLRP3NM_004895.4(NLRP3): c.598G> A (p.Val200Met)single nucleotide variantPathogenicrs121908147GRCh37Chr 1, 247587343: 247587343
3NLRP3NM_004895.4(NLRP3): c.1886A> G (p.Glu629Gly)single nucleotide variantPathogenicrs121908148GRCh37Chr 1, 247588631: 247588631
4NLRP3NM_004895.4(NLRP3): c.1061C> T (p.Ala354Val)single nucleotide variantPathogenicrs121908149GRCh37Chr 1, 247587806: 247587806
5NLRP3NM_004895.4(NLRP3): c.784C> T (p.Arg262Trp)single nucleotide variantPathogenicrs121908150GRCh37Chr 1, 247587529: 247587529
6NLRP3NM_004895.4(NLRP3): c.1711G> C (p.Gly571Arg)single nucleotide variantPathogenicrs121908151GRCh37Chr 1, 247588456: 247588456
7NLRP3NM_004895.4(NLRP3): c.1724T> C (p.Phe575Ser)single nucleotide variantPathogenicrs121908152GRCh37Chr 1, 247588469: 247588469
8NLRP3NM_004895.4(NLRP3): c.913G> A (p.Asp305Asn)single nucleotide variantPathogenicrs121908153GRCh37Chr 1, 247587658: 247587658
9NLRP3NM_004895.4(NLRP3): c.932T> C (p.Phe311Ser)single nucleotide variantPathogenicrs121908154GRCh37Chr 1, 247587677: 247587677
10NLRP3NM_004895.4(NLRP3): c.1064T> C (p.Leu355Pro)single nucleotide variantPathogenicrs28937896GRCh37Chr 1, 247587809: 247587809

Expression for genes affiliated with Familial Cold Autoinflammatory Syndrome

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Search GEO for disease gene expression data for Familial Cold Autoinflammatory Syndrome.

Pathways for genes affiliated with Familial Cold Autoinflammatory Syndrome

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Pathways related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0CASP1
2
Show member pathways
9.4IL1B, IL1R1
3
Show member pathways
Serotonin Transporter Activity36
9.4IL1B, IL1R1
49.3CASP1, IL1B
59.3CASP1, IL1B
6
Show member pathways
9.1IL1R1, IL1B, PLCG2
7
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
9.1IL1R1, IL1B, PLCG2
89.1PLCG2, IL1B, IL1R1
99.1PLCG2, IL1B, IL1R1
10
Show member pathways
9.0NLRP3, CASP1, IL1B
119.0NLRP3, CASP1, IL1B
12
Show member pathways
IFN-gamma pathway36
9.0IL1B, PLCG2, CASP1
13
Show member pathways
8.9SAA1, IL1B, CASP1
14
Show member pathways
8.9CASP1, IL1B, IL1R1
15
Show member pathways
IL-1 Signaling Pathway36
IL1-mediated signaling events36
8.9CASP1, IL1B, IL1R1
16
Show member pathways
8.9CASP1, IL1B, IL1R1
17
Show member pathways
MAPK signaling pathway36
8.9IL1R1, IL1B, CASP1
18
Show member pathways
8.9IL1R1, IL1B, CASP1
19
Show member pathways
8.5IL1R1, IL1B, PLCG2, CASP1
20
Show member pathways
8.3MEFV, IL1B, CASP1, NLRP12, NLRP3
21
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways58
Immune response IL 1 signaling pathway58
7.9NLRP3, NLRP12, CASP1, PLCG2, IL1B, IL1R1

Compounds for genes affiliated with Familial Cold Autoinflammatory Syndrome

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Compounds related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 87)
idCompoundScoreTop Affiliating Genes
1acetyl-tyr-val-ala-asp-cho439.8IL1B, CASP1
2mevalonate439.7MEFV, CASP1, NLRP3
3git 27599.7IL1B, IL1R1
44-ipp599.6IL1R1, IL1B
5tlck439.6IL1B, CASP1
6ag-126439.6IL1B, CASP1
7muramyl dipeptide43 2810.6CASP1, IL1B
8gold sodium thiomalate439.6IL1R1, IL1B
9piroxicam43 1210.6IL1B, SAA1
10colchicine43 59 2 28 1213.5IL1RAPL2, MEFV, SAA1
11pirfenidone43 5910.5IL1R1, IL1B
12tenidap43 2810.4IL1B, SAA1, IL1R1
13amphotericin b439.4IL1RAPL2, IL1R1
14il-12439.4IL1B, IL1R1
15monosodium urate439.3IL1RAPL2, IL1B, IL1R1
16as 10143 5910.3IL1R1, CASP1, IL1B
17polysulfone439.3IL1R1, IL1B, IL1RAPL2
18leflunomide43 49 1211.3IL1R1, IL1RAPL2, IL1B
19sulfasalazine28 43 49 1212.3IL1RAPL2, IL1R1, IL1B
20etanercept43 49 1211.3IL1RAPL2, IL1R1, IL1B
21il 10439.3IL1B, IL1RAPL2, IL1R1
22diphenyleneiodonium439.3CASP1, IL1R1, IL1B
23infliximab43 49 1211.3IL1RAPL2, IL1B, IL1R1
24peptidoglycan43 2810.3IL1R1, CASP1, IL1B
25ivig439.3IL1R1, IL1RAPL2, IL1B
26neopterin439.2IL1R1, IL1RAPL2, IL1B
27corticosterone43 59 2411.2IL1R1, IL1RAPL2, IL1B
28leukotriene b443 59 2411.2IL1B, IL1RAPL2, IL1R1
29fibrinogen439.1PLCG2, IL1RAPL2, IL1R1, SAA1
30prostaglandin439.1IL1B, IL1RAPL2, IL1R1
31naproxen43 24 1211.0IL1B, IL1RAPL2
32methotrexate49 43 1211.0IL1B, IL1R1, IL1RAPL2, NLRP3
33n acetylcysteine438.9IL1B, IL1R1, CASP1, PLCG2
34indomethacin43 28 59 1211.9IL1RAPL2, IL1R1, PLCG2, IL1B
35cholesterol43 28 24 1211.9IL1RAPL2, PLCG2, SAA1, IL1R1
36acth438.9IL1R1, IL1RAPL2, IL1B
37arachidonic acid43 28 24 1211.9IL1R1, PLCG2, IL1B, IL1RAPL2
38h2o2438.9CASP1, IL1RAPL2, PLCG2, IL1R1
39cuprophan438.8CASP1, IL1R1, IL1RAPL2, IL1B
40pentoxifylline43 129.8IL1B, CASP1, IL1RAPL2, IL1R1
41aspirin43 49 28 2411.8IL1R1, IL1RAPL2, IL1B, CASP1
42ribonucleic acid438.8IL1R1, IL1B, CASP1, IL1RAPL2
43actinomycin d438.7IL1R1, IL1B, IL1RAPL2, CASP1
44pge2438.7IL1R1, IL1RAPL2, IL1B, CASP1
45cycloheximide438.6CASP1, IL1B, IL1R1, IL1RAPL2
46estrogen438.6NLRP12, SAA1, IL1R1, IL1RAPL2, CASP1
47anakinra43 129.5IL1B, IL1RAPL2, IL1R1, NLRP3, CASP1
48nitric oxide43 24 1210.4IL1B, PLCG2, CASP1, IL1RAPL2, IL1R1
49dexamethasone43 49 28 1211.4SAA1, IL1B, IL1RAPL2, IL1R1, CASP1
50endotoxin438.0IL1R1, IL1RAPL2, IL1B, CASP1, SAA1, MEFV

GO Terms for genes affiliated with Familial Cold Autoinflammatory Syndrome

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Cellular components related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1NLRP3 inflammasome complexGO:00725599.7NLRP3, CASP1

Biological processes related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-1 beta secretionGO:00507189.6NLRP12, CASP1, NLRP3
2negative regulation of NF-kappaB transcription factor activityGO:00320889.6NLRP12, NLRP3
3activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.5CASP1, NLRP3, NLRP12
4nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.5MEFV, CASP1, NLRP3
5neutrophil chemotaxisGO:00305939.5IL1B, SAA1
6response to ATPGO:00331989.5IL1B, CASP1
7cellular response to organic substanceGO:00713109.4CASP1, IL1B
8regulation of inflammatory responseGO:00507279.4IL1R1, CASP1
9negative regulation of inflammatory responseGO:00507289.3SAA1, MEFV, NLRP3, NLRP12
10cellular response to mechanical stimulusGO:00712609.3CASP1, IL1B
11interleukin-1 beta productionGO:00326119.3NLRP3, CASP1, IL1B
12inflammatory responseGO:00069549.2IL1B, MEFV, NLRP3
13innate immune responseGO:00450878.7SAA1, MEFV, PLCG2, CASP1, NLRP3
14signal transductionGO:00071658.1NLRP12, CASP1, IL1B, LRP12, NLRP3

Molecular functions related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cysteine-type endopeptidase activator activity involved in apoptotic processGO:00086569.6NLRP12, CASP1
2interleukin-1 receptor activityGO:00049089.2IL1RAPL2, IL1R1

Products for genes affiliated with Familial Cold Autoinflammatory Syndrome

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Sources for Familial Cold Autoinflammatory Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet