MCID: 3MT001
MIFTS: 47

3-Methylcrotonyl-Coa Carboxylase Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 22GeneTests, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for 3-Methylcrotonyl-Coa Carboxylase Deficiency:

Name: 3-Methylcrotonyl-Coa Carboxylase Deficiency 10 45 23 12
3-Methylcrotonylglycinuria 10 45 23 51
Mcc Deficiency 45 23 51
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 45 51
Methylcrotonyl-Coa Carboxylase Deficiency 23 24
3-Mcc Deficiency 45 23
Bmcc Deficiency 10 23
3mcc 45 23
 
Mccd 45 51
3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency 23
Deficiency of Methylcrotonoyl-Coa Carboxylase 23
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 65
3 Methylcrotonyl-Coa Carboxylase Deficiency 22
3mcc Deficiency 10
3-Mcc 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
3-methylcrotonylglycinuria:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States),1-9/100000 (Germany),1-9/100000 (Taiwan, Province of China); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:0050710
Orphanet51 6
ICD10 via Orphanet28 E71.1
MESH via Orphanet37 C535308
UMLS via Orphanet66 C0268600

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Disease Ontology:10 An amino acid metabolic disorder that has material basis in mutations in the mccc1 and mccc2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-coa carboxylase that helps break down proteins containing the amino acid leucine. this disease has symptom muscular hypotonia (weak muscle tone), has symptom muscular atrophy, has symptom feeding difficulties, has symptom recurrent episodes of vomiting and diarrhea, and has symptom lethargy.

MalaCards based summary: 3-Methylcrotonyl-Coa Carboxylase Deficiency, also known as 3-methylcrotonylglycinuria, is related to biotinidase deficiency and mccc1-related 3-methylcrotonyl-coa carboxylase deficiency, and has symptoms including muscular hypotonia, hypoglycemia and hyperammonemia. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase Deficiency is MCCC1 (Methylcrotonoyl-CoA Carboxylase 1 (Alpha)), and among its related pathways are Defective HLCS causes multiple carboxylase deficiency and Beta oxidation of octanoyl-CoA to hexanoyl-CoA. Affiliated tissues include lung and cortex, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.

Genetics Home Reference:23 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine.

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Diseases related to 3-Methylcrotonyl-Coa Carboxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1biotinidase deficiency30.4ACADM, ACADVL, MCCC2
2mccc1-related 3-methylcrotonyl-coa carboxylase deficiency10.7
3mccc2-related 3-methylcrotonyl-coa carboxylase deficiency10.7
4hypotonia10.5
5reye syndrome10.5
6status epilepticus10.5
7cerebritis10.5
8leukodystrophy10.5
9respiratory failure10.5
10cardiomyopathy10.5
11encephalopathy10.5
12kiaa2022-related x-linked mental retardation10.3MCCC1, MCCC2
13was-related disorders10.3ACADM, ACADVL
14acyl-coa dehydrogenase, short-chain, deficiency of10.3ACADM, ACADS
15alpha-methylacetoacetic aciduria10.3ACADM, HMGCL
16thoracic aortic aneurysms and aortic dissections10.2HMGCL, MCCC1, MCCC2
17carnitine deficiency, systemic primary10.2ACADM, ACADVL
18dyskeratosis congenita, autosomal recessive 110.2ACADM, ACADS, HMGCL
19microphthalmia/anophthalmia/coloboma spectrum10.2ACADM, ACADS, ACADVL
20senile degeneration of brain10.2ACADM, HMGCL
21orofacial cleft10.2ACADM, ACADS, HMGCL
223-hydroxyacyl-coa dehydrogenase deficiency10.2ACADM, ACADVL, HADH
23pseudotyphus of california10.1PAH, PTS
24aryepiglottic fold cancer10.1ACADM, ACADVL, HADH
253-methylcrotonyl-coa carboxylase 1 deficiency10.1
263-methylcrotonyl-coa carboxylase 2 deficiency10.1
27aminoaciduria10.1
28cryptosporidiosis - chronic cholangitis - liver disease10.1CGB, CGB7
29vocal cord scarring10.1ACADS, SLC25A13
30fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form10.1ACADM, ACADS, ACADVL, SLC25A13
31funisitis10.1PTS, SIX3
32galactosemia10.1ACADM, GALT, SLC25A13
33muscle tissue disease10.1ACADM, MCCC2
34phenylketonuria10.0ACADM, PAH, PTS
35histiocytic and dendritic cell cancer10.0MMD, SLC6A18
36collagenopathy, types ii and xi10.0PAH, PTS
37long qt syndrome 69.8ACADM, ACADVL, HADH, HMGCL, PTS, SLC25A13
38osteoclast-like giant cell neoplasm of the pancreas9.8CGB, CGB7, CGB8
39upper respiratory tract disease9.8CGB, CGB7, CGB8
40maple syrup urine disease, type ii9.8ACADM, ACADS, ACADVL, HMGCL, MMD, PAH
41aceruloplasminemia7.8ACADM, ACADS, ACADVL, CGB, CGB7, CGB8

Graphical network of the top 20 diseases related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:



Diseases related to 3-methylcrotonyl-coa carboxylase deficiency

Symptoms for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Symptoms:

 51 10 (show all 15)
  • hypoglycemia
  • hypotonia
  • metabolic anomalies
  • organic acid metabolism anomalies
  • movement disorder
  • hyperammonemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cerebral vascular anomalies
  • hypertonia/spasticity/rigidity/stiffness
  • muscular hypotonia (weak muscle tone)
  • muscular atrophy
  • feeding difficulties
  • recurrent episodes of vomiting
  • lethargy

HPO human phenotypes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 7)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 hypoglycemia hallmark (90%) HP:0001943
3 hyperammonemia typical (50%) HP:0001987
4 abnormality of movement typical (50%) HP:0100022
5 hypertonia occasional (7.5%) HP:0001276
6 respiratory insufficiency occasional (7.5%) HP:0002093
7 abnormality of the cerebral vasculature occasional (7.5%) HP:0100659

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Genetic Tests for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Genetic tests related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

id Genetic test Affiliating Genes
1 3-Methylcrotonyl-Coa Carboxylase Deficiency22
2 Methylcrotonyl-Coa Carboxylase Deficiency24

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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MalaCards organs/tissues related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

33
Lung, Cortex

Animal Models for 3-Methylcrotonyl-Coa Carboxylase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3ACADS, HADH, PAH, SLC25A13, SLC6A18, SNCA
2MP:00053766.9ACADM, ACADS, ACADVL, GALT, HADH, HMGCL

Publications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 40)
idTitleAuthorsYear
1
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? (25732994)
2015
2
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. (25381946)
2014
3
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats. (23053545)
2013
4
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (24103308)
2013
5
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. (22264772)
2012
6
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (22642865)
2012
7
Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. (22150417)
2012
8
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. (19339287)
2009
9
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. (19706617)
2009
10
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. (18633047)
2008
11
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. (17869468)
2008
12
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. (18155630)
2008
13
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (17968484)
2007
14
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. (17275669)
2007
15
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. (16835865)
2006
16
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. (17142544)
2006
17
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. (16680273)
2006
18
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. (15877210)
2005
19
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. (16435207)
2005
20
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. (16010683)
2005
21
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. (15868465)
2005
22
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. (14612443)
2004
23
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. (15359379)
2004
24
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. (12872837)
2003
25
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. (11893004)
2002
26
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (11406611)
2001
27
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (11181649)
2001
28
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. (11131348)
2000
29
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. (10485305)
1999
30
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. (9537490)
1998
31
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. (9584271)
1998
32
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. (9187484)
1997
33
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. (8831079)
1996
34
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. (7474896)
1995
35
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. (8598650)
1995
36
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. (8598640)
1995
37
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child. (1779635)
1991
38
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. (2515383)
1989
39
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. (6441868)
1984
40
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. (7128647)
1982

Variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Clinvar genetic disease variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency:

5 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1MCCC1NM_020166.4(MCCC1): c.1905delA (p.Lys635Asnfs)deletionPathogenicrs727504001GRCh37Chr 3, 182737990: 182737990
2MCCC1NM_020166.4(MCCC1): c.1526delG (p.Cys509Serfs)deletionPathogenicrs727504002GRCh37Chr 3, 182755074: 182755074
3MCCC1NM_020166.4(MCCC1): c.640-1G> Asingle nucleotide variantPathogenicrs727504005GRCh37Chr 3, 182788909: 182788909
4MCCC1NM_020166.4(MCCC1): c.137-2A> Gsingle nucleotide variantPathogenicrs727504006GRCh37Chr 3, 182810335: 182810335
5MCCC2NM_022132.4(MCCC2): c.517dupT (p.Ser173Phefs)duplicationPathogenicrs587776533GRCh38Chr 5, 71604361: 71604361
6MCCC2NM_022132.4(MCCC2): c.464G> A (p.Arg155Gln)single nucleotide variantPathogenicrs119103220GRCh37Chr 5, 70898413: 70898413
7MCCC2NM_022132.4(MCCC2): c.499T> C (p.Cys167Arg)single nucleotide variantPathogenicrs119103222GRCh37Chr 5, 70898448: 70898448
8MCCC2NM_022132.4(MCCC2): c.803G> C (p.Arg268Thr)single nucleotide variantPathogenicrs119103223GRCh37Chr 5, 70928012: 70928012
9MCCC2NM_022132.4(MCCC2): c.1309A> G (p.Ile437Val)single nucleotide variantPathogenicrs119103224GRCh37Chr 5, 70945016: 70945016
10MCCC2NM_022132.4(MCCC2): c.569A> G (p.His190Arg)single nucleotide variantPathogenicrs119103225GRCh37Chr 5, 70900240: 70900240
11MCCC2NM_022132.4(MCCC2): c.838G> T (p.Asp280Tyr)single nucleotide variantPathogenicrs119103226GRCh37Chr 5, 70930804: 70930804
12MCCC2NM_022132.4(MCCC2): c.1574+1G> Asingle nucleotide variantPathogenicrs730880265GRCh38Chr 5, 71652755: 71652755
13MCCC1NM_020166.4(MCCC1): c.974T> G (p.Met325Arg)single nucleotide variantPathogenicrs119103212GRCh37Chr 3, 182763310: 182763310
14MCCC1NM_020166.4(MCCC1): c.1155A> C (p.Arg385Ser)single nucleotide variantPathogenicrs119103213GRCh37Chr 3, 182759467: 182759467
15MCCC1NM_020166.4(MCCC1): c.1594G> C (p.Asp532His)single nucleotide variantPathogenicrs119103214GRCh37Chr 3, 182755006: 182755006
16MCCC1NM_020166.4(MCCC1): c.1310T> C (p.Leu437Pro)single nucleotide variantPathogenicrs119103215GRCh37Chr 3, 182756881: 182756881
17MCCC1NM_020166.4(MCCC1): c.1604C> T (p.Ser535Phe)single nucleotide variantPathogenicrs119103216GRCh37Chr 3, 182751856: 182751856
18MCCC1NM_020166.4(MCCC1): c.2079delA (p.Val694Terfs)deletionPathogenicrs119103217GRCh37Chr 3, 182733325: 182733325
19MCCC1NM_020166.4(MCCC1): c.1380T> G (p.Ile460Met)single nucleotide variantPathogenicrs119103218GRCh37Chr 3, 182755220: 182755220
20MCCC1NM_020166.4(MCCC1): c.1114C> T (p.Gln372Ter)single nucleotide variantPathogenicrs544349961GRCh37Chr 3, 182759508: 182759508
21MCCC2NM_022132.4(MCCC2): c.1081C> T (p.Arg361Ter)single nucleotide variantPathogenicrs763293192GRCh37Chr 5, 70939654: 70939654
22MCCC1NM_020166.4(MCCC1): c.205A> T (p.Lys69Ter)single nucleotide variantPathogenicrs147741073GRCh37Chr 3, 182810265: 182810265
23MCCC2NM_022132.4(MCCC2)indelLikely pathogenicrs797044772GRCh37Chr 5, 70900228: 70900231
24MCCC1NM_020166.4(MCCC1): c.640-2A> Gsingle nucleotide variantPathogenicrs772395858GRCh37Chr 3, 182788910: 182788910
25MCCC1NM_020166.4(MCCC1): c.1074delG (p.Trp358Cysfs)deletionPathogenicrs398124350GRCh37Chr 3, 182763210: 182763210

Expression for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Search GEO for disease gene expression data for 3-Methylcrotonyl-Coa Carboxylase Deficiency.

Pathways for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Pathways related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.1MCCC1, MCCC2
2
Show member pathways
9.9ACADM, HADH
39.7ACADM, ACADVL, HADH
4
Show member pathways
9.7ACADS, HADH, HMGCL
5
Show member pathways
9.4ACADM, ACADS, ACADVL, HADH
6
Show member pathways
9.4ACADM, ACADS, ACADVL, HADH
7
Show member pathways
9.4ACADM, ACADS, ACADVL, HADH
8
Show member pathways
9.2ACADM, ACADS, ACADVL, HADH, HMGCL
9
Show member pathways
9.0ACADM, ACADS, HADH, HMGCL, MCCC1, MCCC2
10
Show member pathways
7.3ACADM, ACADS, ACADVL, GALT, HADH, HMGCL

GO Terms for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Cellular components related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057439.3ACADVL, HADH, HMGCL, MCCC1, SLC25A13
2mitochondrial matrixGO:00057598.8ACADM, ACADS, ACADVL, HADH, HMGCL, MCCC1
3mitochondrionGO:00057397.2ACADM, ACADS, ACADVL, HADH, HMGCL, MCCC1

Biological processes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1biotin metabolic processGO:000676810.7MCCC1, MCCC2
2branched-chain amino acid catabolic processGO:000908310.7MCCC1, MCCC2
3leucine catabolic processGO:000655210.5HMGCL, MCCC1, MCCC2
4fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:003353910.4ACADM, ACADS, ACADVL
5lipid homeostasisGO:005508810.4ACADM, ACADS, ACADVL
6response to starvationGO:004259410.3ACADM, ACADS, HMGCL
7fatty acid beta-oxidationGO:000663510.0ACADM, ACADS, ACADVL, HADH
8cellular lipid metabolic processGO:00442559.7ACADM, ACADS, ACADVL, HADH, HMGCL
9peptide hormone processingGO:00164869.3CGB, CGB7, CGB8
10female gamete generationGO:00072928.9CGB, CGB7, CGB8
11metabolic processGO:00081528.6ACADM, ACADS, ACADVL, MCCC1, MCCC2, PAH
12oxidation-reduction processGO:00551148.5ACADM, ACADS, ACADVL, HADH, PAH, SNCA
13cellular protein metabolic processGO:00442678.3ACADVL, CGB, CGB7, CGB8, SNCA
14small molecule metabolic processGO:00442817.4ACADM, ACADS, ACADVL, GALT, HADH, HMGCL

Molecular functions related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1methylcrotonoyl-CoA carboxylase activityGO:000448510.6MCCC1, MCCC2
2oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:005289010.5ACADM, ACADVL
3acyl-CoA dehydrogenase activityGO:000399510.2ACADM, ACADS, ACADVL
4oxidoreductase activity, acting on the CH-CH group of donorsGO:001662710.1ACADM, ACADS, ACADVL
5flavin adenine dinucleotide bindingGO:00506609.7ACADM, ACADS, ACADVL
6electron carrier activityGO:00090559.7ACADM, ACADS, ACADVL
7fatty-acyl-CoA bindingGO:00000629.6ACADM, ACADS, ACADVL, HMGCL
8hormone activityGO:00051799.0CGB, CGB7, CGB8

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet