MCID: DNT016
MIFTS: 49

Dentatorubro-Pallidoluysian Atrophy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Dentatorubro-Pallidoluysian Atrophy

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Aliases & Descriptions for Dentatorubro-Pallidoluysian Atrophy:

Name: Dentatorubro-Pallidoluysian Atrophy 50 12
Dentatorubral-Pallidoluysian Atrophy 50 11 22 46 23 24 13 68 66
Drpla 11 22 46 23 24 52 68 48
Naito-Oyanagi Disease 11 23 24 52
Haw River Syndrome 11 46 24
Myoclonic Epilepsy with Choreoathetosis 46 24
 
Dentatorubral Pallidoluysian Atrophy 52 25
Dentatorubropallidoluysian Atrophy 46 52
Nod 46 24
Ataxia, Chorea, Seizures, and Dementia 46
Myoclonic Epilepsies, Progressive 37
Naito Oyanagi Disease 46

Characteristics:

Orphanet epidemiological data:

52
drpla:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: All ages

HPO:

62
dentatorubro-pallidoluysian atrophy:
Inheritance: autosomal dominant inheritance, genetic anticipation


Classifications:



External Ids:

OMIM50 125370
Disease Ontology11 DOID:0060162
MeSH37 D020191
Orphanet52 ORPHA101
ICD10 via Orphanet29 G11.8
UMLS via Orphanet67 C0751781
UMLS66 C0751776, C0751777, C0751778 C0751779, C0751780, C0751781, C0751782, more

Summaries for Dentatorubro-Pallidoluysian Atrophy

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NIH Rare Diseases:46 Dentatorubral-pallidoluysian atrophy (drpla) is a progressive brain disorder that causes involuntary movements; mental and emotional problems; and a decline in thinking ability. the average age of onset of drpla is 30 years, but the condition can appear anytime from infancy to mid-adulthood. specific signs and symptoms may differ among affected individuals and sometimes affects children and adults differently. drpla is caused by a mutation in the atn1 gene and is inherited in an autosomal dominant manner. treatment is symptomatic and supportive. last updated: 9/5/2012

MalaCards based summary: Dentatorubro-Pallidoluysian Atrophy, also known as dentatorubral-pallidoluysian atrophy, is related to progressive myoclonus epilepsy and unverricht-lundborg syndrome, and has symptoms including atrophy of the dentate nucleus, fetal cystic hygroma and ataxia. An important gene associated with Dentatorubro-Pallidoluysian Atrophy is ATN1 (Atrophin 1), and among its related pathways are Chks in Checkpoint Regulation and Akt Signaling. Affiliated tissues include brain, and related mouse phenotypes are mortality/aging and growth/size/body region.

Disease Ontology:11 An autosomal dominant cerebellar ataxia that has material basis in expansion of cag triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.

UniProtKB/Swiss-Prot:68 Dentatorubral-pallidoluysian atrophy: Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth.

Genetics Home Reference:24 Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.

Description from OMIM:50 125370

GeneReviews summary for NBK1491

Related Diseases for Dentatorubro-Pallidoluysian Atrophy

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Diseases related to Dentatorubro-Pallidoluysian Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1progressive myoclonus epilepsy11.3
2unverricht-lundborg syndrome11.1
3ataxia10.4
4microcephaly10.2
5epilepsy10.2
6cerebritis10.2
7neuronitis10.2
8myoclonus epilepsy10.2
9myoclonus10.2
10rigidity and multifocal seizure syndrome, lethal neonatal10.2JPH3, TBP
11mednik syndrome10.2ATXN3, ATXN7, CACNA1A
12schistosoma mansoni infection, susceptibility/10.2ATXN3, CACNA1A, PPP2R2B
13hypocalcemia, autosomal dominant 210.2ATXN3, ATXN7, CACNA1A
14lissencephaly 6, with microcephaly10.1ATXN3, ATXN7, CACNA1A
15spinocerebellar ataxia 710.1ATXN2, ATXN7
16oguchi disease-210.0CACNA1A, FGF14
17hypogonadotropic hypogonadism 3 with or without anosmia10.0ATXN2, PPP2R2B
18machado-joseph disease10.0
19melanoma, cutaneous malignant, 59.8HTT, JPH3
20celiac disease 139.8ATXN2, ATXN3, ATXN7, CACNA1A
21basilar impression, primary9.8ATXN1, ATXN3
22angiomyolipoma9.6ATXN3, CACNA1A, HTT
23chronic intestinal vascular insufficiency9.5ATXN3, CACNA1A, HTT
24miller fisher syndrome9.5ATXN3, HTT, JPH3, TBP
25hereditary spastic paraplegia9.3ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
26necatoriasis9.3ATXN2, ATXN3, ATXN7, CACNA1A, PPP2R2B, TBP
27parkinson disease, late-onset9.3ATXN2, ATXN3, HTT, TBP
28osteopathia striata with cranial sclerosis9.2ATXN1, ATXN3, ATXN7, HTT
29atrial fibrillation and stroke9.1ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP
30bruck syndrome 28.8ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
31tremor, hereditary essential, 38.7ATN1, ATXN1, ATXN3, ATXN7, CACNA1A, HTT
32mucopolysaccharidosis ih8.7ATN1, ATXN1, ATXN3, HTT, JPH3, TBP
33dracunculiasis8.6ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
34mental retardation, autosomal recessive 328.3ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
35okt4 epitope deficiency5.6ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2

Graphical network of the top 20 diseases related to Dentatorubro-Pallidoluysian Atrophy:



Diseases related to dentatorubro-pallidoluysian atrophy

Symptoms for Dentatorubro-Pallidoluysian Atrophy

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Symptoms by clinical synopsis from OMIM:

125370

Clinical features from OMIM:

125370

HPO human phenotypes related to Dentatorubro-Pallidoluysian Atrophy:

(show all 10)
id Description Frequency HPO Source Accession
1 atrophy of the dentate nucleus hallmark (90%) HP:0007047
2 fetal cystic hygroma hallmark (90%) HP:0010878
3 ataxia 25% HP:0001251
4 dementia 14% HP:0000726
5 seizures 12% HP:0001250
6 nystagmus 9% HP:0000639
7 chorea 7% HP:0002072
8 myoclonus 6% HP:0001336
9 abnormal pyramidal signs rare (5%) HP:0007256
10 choreoathetosis HP:0001266

UMLS symptoms related to Dentatorubro-Pallidoluysian Atrophy:


ataxia, cerebellar ataxia, myoclonus, seizures, difficulty standing, abnormal coordination, loss of control of walking, equilibration disorder, trendelenburg's symptom, gait deviation

Drugs & Therapeutics for Dentatorubro-Pallidoluysian Atrophy

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Drugs for Dentatorubro-Pallidoluysian Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CysteaminePhase 2, Phase 32660-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
Decarboxycysteine
DivK1c_006750
 
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
2Dopamine agonistsPhase 2611
3
RopinirolePhase 27291374-20-8, 91374-21-95095, 497540
Synonyms:
1,3-Dihydro-4-(2-(dipropylamino)ethyl)-2H-indol-2-one monohydrochloride
2(H)-Indol-2-one, 4-(2-(dipropylamino)ethyl)-1,3-dihydro-, monohydrochloride
2H-Indol-2-one, 1,3-dihydro-4-(2-(dipropylamino)ethyl)-, monohydrochloride
2H-Indol-2-one, 4-[2-(dipropylamino)ethyl]-1,3-dihydro-, hydrochloride (1:1)
4-(2-(Dipropylamino)ethyl)-2-indolinone monohydrochloride
4-[2-(Dipropylamino)ethyl]-1,3-dihydro-2H-indol-2-one
4-[2-(Dipropylamino)ethyl]indoline-2-one
4-[2-(dipropylamino)ethyl]-1,3-dihydro-2H-indol-2-one hydrochloride
4-[2-(dipropylamino)ethyl]-1,3-dihydroindol-2-one
4-[2-(dipropylamino)ethyl]-1,3-dihydroindol-2-one hydrochloride
91374-20-8
91374-20-8 (hydrochloride)
91374-21-9
91374-21-9 (Parent)
AB1004799
AC-735
AC1L1JLL
AC1L2ABS
AC1Q3EQJ
AR-1L3132
Adartrel
BIDD:GT0826
BRD-K15933101-003-01-2
C07564
CHEBI:8888
CHEMBL1200411
CHEMBL589
CID5095
CID68727
D00784
D08489
DB00268
EU-0101101
HMS2093K04
I06-0692
I06-0693
JZP-7
L000520
LS-83828
LS-83890
Lopac-R-4152
Lopac0_001101
 
MolPort-003-666-598
MolPort-003-987-439
NCGC00015893-01
NCGC00015893-04
NCGC00094373-01
NCGC00096064-01
NCGC00096064-02
NVD-434
R 4152
ReQuip
ReQuip CR
ReQuip LP
ReQuip XL
ReQuip XR
Repreve
Requip (TN)
Ropinirol
Ropinirol [INN-Spanish]
Ropinirole
Ropinirole (INN)
Ropinirole HCl
Ropinirole [INN:BAN]
Ropinirole hydrochloride
Ropinirole hydrochloride (JAN/USAN)
Ropinirole hydrochloride [USAN]
Ropinirolum
Ropinirolum [INN-Latin]
Ropitor
Ropitor (TN)
SK&F 101468
SK&F 101468-A
SK&F-101,468
SK&F-101468-A
SK&F-101468A
SKF 101468
SKF 101468-A
SPECTRUM1505178
ST51051236
TL8005858
TL8005859
UNII-030PYR8953
UNII-D7ZD41RZI9
ropinirol
4
DopaminePhase 2367851-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
5insulin4401
6
protease inhibitors5157
Synonyms:
 
protease inhibitors
7serineNutraceutical883

Interventional clinical trials:

idNameStatusNCT IDPhase
1Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and AdultsCompletedNCT00368251Phase 3
2Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and AdultsCompletedNCT00357669Phase 3
3Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
4Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg TypeEnrolling by invitationNCT00639119Phase 2
5A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
6Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176
7Ketogenic Diet in Lafora DiseaseCompletedNCT00007124
8Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554

Search NIH Clinical Center for Dentatorubro-Pallidoluysian Atrophy


Cochrane evidence based reviews: myoclonic epilepsies, progressive

Genetic Tests for Dentatorubro-Pallidoluysian Atrophy

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Genetic tests related to Dentatorubro-Pallidoluysian Atrophy:

id Genetic test Affiliating Genes
1 Dentatorubral Pallidoluysian Atrophy25
2 Drpla23 ATN1

Anatomical Context for Dentatorubro-Pallidoluysian Atrophy

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MalaCards organs/tissues related to Dentatorubro-Pallidoluysian Atrophy:

34
Brain

Animal Models for Dentatorubro-Pallidoluysian Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Dentatorubro-Pallidoluysian Atrophy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107686.3ATN1, ATXN1, ATXN2, ATXN7, BAIAP2, CACNA1A
2MP:00053786.2ATN1, ATXN1, ATXN2, ATXN7, CACNA1A, FGF14
3MP:00053866.1ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2
4MP:00036315.5ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2

Publications for Dentatorubro-Pallidoluysian Atrophy

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Articles related to Dentatorubro-Pallidoluysian Atrophy:

idTitleAuthorsYear
1
Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients. (22872568)
2013
2
A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement. (17236112)
2006
3
Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA). (11967648)
2002
4
Length polymorphism in a CAG-rich coding region of the canine dentatorubro-pallidoluysian atrophy (DRPLA) gene. (9720192)
1998
5
Loss of the dentate nucleus neurons is associated with torpedo formation: a morphometric study in progressive supranuclear palsy and dentatorubro-pallidoluysian atrophy. (9498049)
1998
6
Dentatorubro-pallidoluysian atrophy of the myoclonus epilepsy type with posterior column degeneration. (2109190)
1990

Variations for Dentatorubro-Pallidoluysian Atrophy

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Clinvar genetic disease variations for Dentatorubro-Pallidoluysian Atrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATN1NM_001940.3(ATN1)NT expansionPathogenicrs193922934GRCh37Chr 12, 7045880: 7045882
2ATN1NM_001007026.1(ATN1)NT expansionPathogenicGRCh37Chr 12, 7045892: 7045894
3ATN1NM_001007026.1(ATN1)NT expansionPathogenicGRCh37Chr 12, 7045892: 7045894

Expression for genes affiliated with Dentatorubro-Pallidoluysian Atrophy

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Search GEO for disease gene expression data for Dentatorubro-Pallidoluysian Atrophy.

Pathways for genes affiliated with Dentatorubro-Pallidoluysian Atrophy

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Pathways related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.9ATXN1, ATXN2, ATXN3, ATXN7
2
Show member pathways
7.3ATXN1, ATXN2, ATXN3, ATXN7, FGF14, HTT

GO Terms for genes affiliated with Dentatorubro-Pallidoluysian Atrophy

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Cellular components related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:004240510.4ATXN1, ATXN3
2nuclear matrixGO:00163639.3ATN1, ATXN1, ATXN3, ATXN7
3cytoplasmGO:00057376.6ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2

Biological processes related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1exploration behaviorGO:003564010.0ATXN3, JPH3
2regulation of protein phosphatase type 2A activityGO:00340479.7HTT, PPP2R2B
3regulation of synaptic plasticityGO:00481679.6BAIAP2, FGF14
4dendrite morphogenesisGO:00488139.5CACNA1A, RERE

Molecular functions related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:00080229.1ATXN1, ATXN2, BAIAP2

Sources for Dentatorubro-Pallidoluysian Atrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet