RSTS1
MCID: RBN001
MIFTS: 64

Rubinstein-Taybi Syndrome (RSTS1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Mental diseases, Smell/Taste diseases

Aliases & Classifications for Rubinstein-Taybi Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Rubinstein-Taybi Syndrome:

Name: Rubinstein-Taybi Syndrome 52 11 71 23 48 24 25 54 27 12 50 39 13 68
Broad Thumb-Hallux Syndrome 11 71 48 25 54 70
Rubinstein Syndrome 11 48 70
Rsts 71 48 25
Broad Thumbs-Hallux Syndrome 23 24
Rubinstein-Taybi Syndrome 1 52 70
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 48
 
Broad Thumbs Great Toes Characteristic Facies and Mental Retardation 70
Rubinstein-Taybi Syndrome Due to Crebbp Mutations 54
Chromosome 16p13.3 Deletion Syndrome, Proximal 68
Proximal Chromosome 16p13.3 Deletion Syndrome 11
Broad Thumbs-Halluces Syndrome 54
Rsts1 70
Rts 25

Characteristics:

Orphanet epidemiological data:

54
rubinstein-taybi syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age

HPO:

64
rubinstein-taybi syndrome:
Inheritance: autosomal dominant inheritance, heterogeneous, sporadic
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 180849
Disease Ontology11 DOID:1933
ICD1030 Q87.2
MeSH39 D012415
NCIt45 C75466
SNOMED-CT62 157032007, 45582004
UMLS via Orphanet69 C0035934
MESH via Orphanet40 D012415
ICD10 via Orphanet31 Q87.2
MedGen37 C0035934

Summaries for Rubinstein-Taybi Syndrome

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OMIM:52 Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal... (180849) more...

MalaCards based summary: Rubinstein-Taybi Syndrome, also known as broad thumb-hallux syndrome, is related to rubinstein-taybi syndrome 2 and ep300-related rubinstein-taybi syndrome, and has symptoms including constipation, constipation and seizures. An important gene associated with Rubinstein-Taybi Syndrome is CREBBP (CREB Binding Protein), and among its related pathways are Initiation of transcription and translation elongation at the HIV-1 LTR and Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex. Affiliated tissues include eye, heart and kidney, and related mouse phenotypes are craniofacial and respiratory system.

Disease Ontology:11 An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.

Genetics Home Reference:25 Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome.

NIH Rare Diseases:48 Rubinstein-taybi syndrome is a condition characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. the condition may be caused by a mutation in the crebbp or ep300 gene, or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16. in some affected people, the cause is unknown. while rubinstein-taybi syndrome can be inherited in an autosomal dominant manner, most cases result from a new (de novo) mutation in the responsible gene and are not inherited from a parent. treatment is symptomatic and supportive. last updated: 1/14/2016

UniProtKB/Swiss-Prot:70 Rubinstein-Taybi syndrome 1: A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies.

Wikipedia:71 Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome,... more...

GeneReviews for NBK1526

Related Diseases for Rubinstein-Taybi Syndrome

About this section

Diseases in the Rubinstein-Taybi Syndrome family:

Rubinstein-Taybi Syndrome 2 Rubinstein Taybi Like Syndrome
Crebbp-Related Rubinstein-Taybi Syndrome Ep300-Related Rubinstein-Taybi Syndrome

Diseases related to Rubinstein-Taybi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1rubinstein-taybi syndrome 212.5
2ep300-related rubinstein-taybi syndrome12.3
3crebbp-related rubinstein-taybi syndrome12.1
4rothmund-thomson syndrome11.7
5atypical teratoid rhabdoid tumor11.7
6chromosome 16p13.3 deletion syndrome11.5
7colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas11.2
8floating-harbor syndrome11.2
9coffin-lowry syndrome11.2
10chromosome 16p13.3 deletion syndrome, proximal11.1
11rhabdoid cancer11.1
12rett syndrome10.9
13rhabdoid tumors, somatic10.8
14keloids10.4
15cervicitis10.2
16scoliosis10.2
17necrotic uveal melanoma10.1CREBBP, EP300
18neuroblastoma10.1
19medulloblastoma10.1
20congenital hypothyroidism10.1
21sleep apnea10.1
22obstructive sleep apnea10.1
23hypothyroidism10.1
24thyroiditis10.1
25chiari malformation10.1
26slipped capital femoral epiphysis10.1
27generalized epilepsy with febrile seizures plus, type 910.1CREBBP, SRCAP
28hutchinson incisors10.1CREB1, CREBBP, EP300
29hurst hallam hockey syndrome10.0CREB1, CREBBP, EP300
30pheochromocytoma9.9
31anterior segment mesenchymal dysgenesis9.9
32smith-lemli-opitz syndrome9.9
33gastroesophageal reflux9.9
34piebaldism9.9
35tricuspid atresia9.9
36pulmonary hypertension9.9
37acute leukemia9.9
38follicular lymphoma9.9
39hemangioma9.9
40hepatitis9.9
41leukemia9.9
42spondylolisthesis9.9
43brachydactyly9.9
44lymphoma9.9
45nasopharyngitis9.9
46imperforate anus9.9
47meningoencephalitis9.9
48juvenile glaucoma9.9
49microcephaly9.9
50megacolon9.9

Graphical network of the top 20 diseases related to Rubinstein-Taybi Syndrome:



Diseases related to rubinstein-taybi syndrome

Symptoms & Phenotypes for Rubinstein-Taybi Syndrome

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Symptoms by clinical synopsis from OMIM:

180849

Clinical features from OMIM:

180849

Human phenotypes related to Rubinstein-Taybi Syndrome:

 54 64 (show all 137)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Frequent (79-30%) HP:0000028
2 abnormality of the teeth54 Frequent (79-30%)
3 high palate64 54 Very frequent (99-80%) HP:0000218
4 microcephaly64 54 Frequent (79-30%) HP:0000252
5 epicanthus64 54 Frequent (79-30%) HP:0000286
6 hypertelorism64 54 Very frequent (99-80%) HP:0000316
7 micrognathia64 54 Frequent (79-30%) HP:0000347
8 hearing impairment64 54 Occasional (29-5%) HP:0000365
9 low-set ears64 54 Very frequent (99-80%) HP:0000369
10 wide nasal bridge64 54 Frequent (79-30%) HP:0000431
11 convex nasal ridge64 54 Very frequent (99-80%) HP:0000444
12 strabismus64 54 Frequent (79-30%) HP:0000486
13 downslanted palpebral fissures64 54 Very frequent (99-80%) HP:0000494
14 glaucoma64 54 Frequent (79-30%) HP:0000501
15 telecanthus64 54 Very frequent (99-80%) HP:0000506
16 ptosis64 54 Occasional (29-5%) HP:0000508
17 nasolacrimal duct obstruction64 54 Frequent (79-30%) HP:0000579
18 carious teeth64 54 Frequent (79-30%) HP:0000670
19 irritability64 54 Frequent (79-30%) HP:0000737
20 anxiety64 54 Frequent (79-30%) HP:0000739
21 atypical scarring of skin54 Occasional (29-5%)
22 brachydactyly syndrome64 54 Very frequent (99-80%) HP:0001156
23 intellectual disability64 54 Very frequent (99-80%) HP:0001249
24 seizures64 54 Occasional (29-5%) HP:0001250
25 global developmental delay64 54 Very frequent (99-80%) HP:0001263
26 hip dysplasia64 54 Occasional (29-5%) HP:0001385
27 failure to thrive in infancy64 54 Very frequent (99-80%) HP:0001531
28 polyhydramnios64 54 Occasional (29-5%) HP:0001561
29 constipation64 54 Frequent (79-30%) HP:0002019
30 respiratory insufficiency64 54 Frequent (79-30%) HP:0002093
31 generalized hirsutism64 54 Frequent (79-30%) HP:0002230
32 highly arched eyebrow64 54 Frequent (79-30%) HP:0002553
33 malformation of the heart and great vessels54 Frequent (79-30%)
34 clinodactyly of the 5th finger64 54 Frequent (79-30%) HP:0004209
35 short stature64 54 Very frequent (99-80%) HP:0004322
36 capillary hemangiomas64 54 Occasional (29-5%) HP:0005306
37 joint hyperflexibility64 54 Very frequent (99-80%) HP:0005692
38 finger syndactyly64 54 Occasional (29-5%) HP:0006101
39 attention deficit hyperactivity disorder64 54 Frequent (79-30%) HP:0007018
40 feeding difficulties in infancy64 54 Very frequent (99-80%) HP:0008872
41 abnormality of the distal phalanx of finger64 54 Frequent (79-30%) HP:0009832
42 broad hallux phalanx64 54 Very frequent (99-80%) HP:0010059
43 keloids64 54 Occasional (29-5%) HP:0010562
44 broad thumb64 54 Very frequent (99-80%) HP:0011304
45 clubbing of toes64 54 Frequent (79-30%) HP:0100760
46 hypospadias64 HP:0000047
47 shawl scrotum64 HP:0000049
48 abnormality of the kidney64 HP:0000077
49 bifid uterus64 HP:0000136
50 narrow mouth64 HP:0000160
51 narrow palate64 HP:0000189
52 wide anterior fontanel64 HP:0000260
53 delayed cranial suture closure64 HP:0000270
54 facial grimacing64 HP:0000273
55 retrognathia64 HP:0000278
56 low anterior hairline64 HP:0000294
57 hypoplasia of the maxilla64 HP:0000327
58 abnormality of the pinna64 HP:0000377
59 abnormality of the cornea64 HP:0000481
60 deeply set eye64 HP:0000490
61 cataract64 HP:0000518
62 proptosis64 HP:0000520
63 long eyelashes64 HP:0000527
64 abnormality of refraction64 HP:0000539
65 thick eyebrow64 HP:0000574
66 coloboma64 HP:0000589
67 dental crowding64 HP:0000678
68 dental malocclusion64 HP:0000689
69 autism64 HP:0000717
70 stereotypy64 HP:0000733
71 short attention span64 HP:0000736
72 self-mutilation64 HP:0000742
73 delayed speech and language development64 HP:0000750
74 hyperactivity64 HP:0000752
75 agoraphobia64 HP:0000756
76 pectus excavatum64 HP:0000767
77 single transverse palmar crease64 HP:0000954
78 cafe-au-lait spot64 HP:0000957
79 hirsutism64 HP:0001007
80 high axial triradius64 HP:0001042
81 chorioretinal dystrophy64 HP:0001135
82 syndactyly64 HP:0001159
83 prominent fingertip pads64 HP:0001212
84 muscular hypotonia64 HP:0001252
85 agenesis of corpus callosum64 HP:0001274
86 bimanual synkinesia64 HP:0001335
87 hyperreflexia64 HP:0001347
88 flexion contracture64 HP:0001371
89 joint laxity64 HP:0001388
90 failure to thrive64 HP:0001508
91 laryngomalacia64 HP:0001601
92 ventricular septal defect64 HP:0001629
93 atrial septal defect64 HP:0001631
94 patent ductus arteriosus64 HP:0001643
95 pes planus64 HP:0001763
96 truncal obesity64 HP:0001956
97 frontal bossing64 HP:0002007
98 respiratory distress64 HP:0002098
99 tethered cord64 HP:0002144
100 low posterior hairline64 HP:0002162
101 phonophobia64 HP:0002183
102 frontal upsweep of hair64 HP:0002236
103 aganglionic megacolon64 HP:0002251
104 unsteady gait64 HP:0002317
105 eeg abnormality64 HP:0002353
106 poor coordination64 HP:0002370
107 scoliosis64 HP:0002650
108 parietal foramina64 HP:0002697
109 large foramen magnum64 HP:0002700
110 delayed skeletal maturation64 HP:0002750
111 recurrent upper respiratory tract infections64 HP:0002788
112 hypoplastic iliac wing64 HP:0002866
113 flared iliac wings64 HP:0002869
114 obstructive sleep apnea64 HP:0002870
115 patellar dislocation64 HP:0002999
116 dislocated radial head64 HP:0003083
117 spina bifida occulta64 HP:0003298
118 abnormality of the cervical spine64 HP:0003319
119 deviated nasal septum64 HP:0004411
120 avascular necrosis of the capital femoral epiphysis64 HP:0005743
121 radial deviation of thumb terminal phalanx64 HP:0005895
122 hypoplasia of dental enamel64 HP:0006297
123 abnormal number of teeth64 HP:0006483
124 plantar crease between first and second toes64 HP:0008107
125 postnatal growth retardation64 HP:0008897
126 papillary cystadenoma of the epididymis64 HP:0009715
127 low hanging columella64 HP:0009765
128 duane anomaly64 HP:0009921
129 broad hallux64 HP:0010055
130 duplication of phalanx of hallux64 HP:0010066
131 premature thelarche64 HP:0010314
132 polydactyly64 HP:0010442
133 vascular ring64 HP:0010775
134 talon cusp64 HP:0011087
135 arrhythmia64 HP:0011675
136 impulsivity64 HP:0100710
137 abnormality of cardiovascular system morphology64 HP:0030680

UMLS symptoms related to Rubinstein-Taybi Syndrome:


constipation, seizures

MGI Mouse Phenotypes related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2CREBBP, EP300, GAS1, LRP4, MECP2
2MP:00053888.1CREB1, CREBBP, EP300, GAS1, LRP4, MECP2
3MP:00053808.0CREB1, CREBBP, EP300, GAS1, LRP4, MECP2

Drugs & Therapeutics for Rubinstein-Taybi Syndrome

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Drugs for Rubinstein-Taybi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Valproic Acidapproved, investigationalPhase 232799-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propyl-pentanoic acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VPA
Valcote
Valparin
Valproate
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
acide valproïque
acidum valproicum
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
ácido valproico
2Psychotropic DrugsPhase 26430
3Tranquilizing AgentsPhase 24265
4Neurotransmitter AgentsPhase 218340
5Histone Deacetylase InhibitorsPhase 2569
6Antimanic AgentsPhase 2814
7Central Nervous System DepressantsPhase 213403
8GABA AgentsPhase 21684
9AnticonvulsantsPhase 22695

Interventional clinical trials:

idNameStatusNCT IDPhase
1Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic TrialCompletedNCT01619644Phase 2
2Resistant Starch on Glycemic Response in Older AdultsCompletedNCT00676767

Search NIH Clinical Center for Rubinstein-Taybi Syndrome


Cochrane evidence based reviews: rubinstein-taybi syndrome

Genetic Tests for Rubinstein-Taybi Syndrome

About this section

Genetic tests related to Rubinstein-Taybi Syndrome:

id Genetic test Affiliating Genes
1 Rubinstein-Taybi Syndrome27 24 EP300

Anatomical Context for Rubinstein-Taybi Syndrome

About this section

MalaCards organs/tissues related to Rubinstein-Taybi Syndrome:

36
Eye, Heart, Kidney, Brain, Bone, Uterus, Skin

Publications for Rubinstein-Taybi Syndrome

About this section

Articles related to Rubinstein-Taybi Syndrome:

(show top 50)    (show all 340)
idTitleAuthorsYear
1
Rubinstein-Taybi Syndrome and Epigenetic Alterations. (28523540)
2017
2
Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report. (28503387)
2017
3
The Social Security Administration's Compassionate Allowances Initiative: Condition Spotlight on Rubinstein-Taybi Syndrome. (28395077)
2017
4
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence. (27581590)
2016
5
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. (27648933)
2016
6
Rubinstein-Taybi syndrome - a window into follicular lymphoma biology. (27086936)
2016
7
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. (27311832)
2016
8
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report. (26603346)
2016
9
Electroclinical phenotype in Rubinstein-Taybi syndrome. (26867510)
2016
10
Hysterectomy due to Abnormal Uterine Bleeding in a 15-year Old Girl with Rubinstein-Taybi Syndrome. (27924288)
2016
11
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. (26788536)
2016
12
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome. (27825976)
2016
13
Rubinstein Taybi Syndrome with Psychosis. (27567660)
2016
14
Anaesthetic Management of Children with Rubinstein-Taybi Syndrome. (27366579)
2016
15
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. (27465822)
2016
16
One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome. (27322716)
2016
17
Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome. (27011324)
2016
18
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. (27964710)
2016
19
Anesthetic management for thoracic surgery in Rubinstein-Taybi syndrome. (27062171)
2016
20
Circumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young Adolescent. (27065842)
2016
21
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. (27342041)
2016
22
A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood. (25683362)
2015
23
Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation. (25768348)
2015
24
Rubinstein-Taybi Syndrome in a 19-years old boy. (26707040)
2015
25
Rubinstein-Taybi syndrome associated with humoral immunodeficiency. (25997309)
2015
26
Pilomatricomas in Rubinstein-Taybi syndrome. (25721637)
2015
27
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report. (25596810)
2015
28
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. (25805166)
2015
29
Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome. (26275701)
2015
30
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation. (26374735)
2015
31
Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report. (26485669)
2015
32
Synchronous ovarian and endometrial carcinomas in a patient with Rubinstein-Taybi syndrome: a case report and literature review. (25675181)
2015
33
Rubinstein-Taybi syndrome with agenesis of corpus callosum. (26167229)
2015
34
Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome. (26229571)
2015
35
Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome. (26085772)
2015
36
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. (25599811)
2015
37
Antibody deficiency in Rubinstein-Taybi syndrome. (26307339)
2015
38
Rubinstein-Taybi Syndrome. (26143027)
2015
39
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. (26279656)
2015
40
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. (25712426)
2015
41
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. (27617129)
2015
42
Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome. (25861312)
2015
43
Intestinal malrotation in Rubinstein-Taybi syndrome. (26097216)
2015
44
Keloids: an unwanted spontaneity in rubinstein-taybi syndrome. (25814745)
2015
45
Repetitive behavior in rubinstein-taybi syndrome: parallels with autism spectrum phenomenology. (25491025)
2015
46
Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma. (24115570)
2014
47
A case of Rubinstein-Taybi syndrome and congenital neuroblastoma. (24458435)
2014
48
Brain magnetic resonance in the routine management of Rubinstein-Taybi syndrome (RTS) can prevent life-threatening events and neurological deficits. (24764247)
2014
49
Keloids in Rubinstein-Taybi syndrome: a clinical study. (25132000)
2014
50
Childhood glaucoma associated with broad fingers and toes. Diagnosis: Infantile glaucoma with Rubinstein-Taybi syndrome. (25427301)
2014

Variations for Rubinstein-Taybi Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Rubinstein-Taybi Syndrome:

70 (show all 17)
id Symbol AA change Variation ID SNP ID
1CREBBPp.Arg1378ProVAR_015578rs121434626
2CREBBPp.Glu1278LysVAR_035080rs267606752
3CREBBPp.Thr1447IleVAR_035081
4CREBBPp.Tyr1450HisVAR_035082
5CREBBPp.His1470ArgVAR_035083rs797044860
6CREBBPp.Arg1664HisVAR_035084
7CREBBPp.Tyr1175CysVAR_037305rs28937315
8CREBBPp.Tyr650PheVAR_072915
9CREBBPp.Ala789ThrVAR_072916rs746728741
10CREBBPp.Thr910AlaVAR_072917rs143247685
11CREBBPp.Glu1278AlaVAR_072918
12CREBBPp.Asp1406TyrVAR_072919
13CREBBPp.Gln1415ProVAR_072920
14CREBBPp.Pro1475ThrVAR_072921
15CREBBPp.Tyr1503PheVAR_072922
16CREBBPp.Leu1507ProVAR_072923
17CREBBPp.Asp1543AsnVAR_072924

Clinvar genetic disease variations for Rubinstein-Taybi Syndrome:

5 (show all 78)
id Gene Variation Type Significance SNP ID Assembly Location
1CREBBPNM_ 004380.2(CREBBP): c.1063C> T (p.Gln355Ter)SNVPathogenicrs587783460GRCh37Chr 16, 3843540: 3843540
2CREBBPNM_ 004380.2(CREBBP): c.1156C> T (p.Arg386Ter)SNVPathogenicrs587783461GRCh37Chr 16, 3843447: 3843447
3CREBBPNM_ 004380.2(CREBBP): c.1257G> A (p.Trp419Ter)SNVPathogenicrs587783463GRCh37Chr 16, 3842055: 3842055
4CREBBPNM_ 004380.2(CREBBP): c.1270C> T (p.Arg424Ter)SNVPathogenicrs587783464GRCh37Chr 16, 3842042: 3842042
5CREBBPNM_ 004380.2(CREBBP): c.1590delC (p.Asn530Lysfs)deletionPathogenicrs587783465GRCh37Chr 16, 3831291: 3831291
6CREBBPNM_ 004380.2(CREBBP): c.1821delA (p.Lys607Asnfs)deletionPathogenicrs587783467GRCh37Chr 16, 3830735: 3830735
7CREBBPNM_ 004380.2(CREBBP): c.2026delC (p.Gln676Lysfs)deletionPathogenicrs587783469GRCh37Chr 16, 3828099: 3828099
8CREBBPNM_ 004380.2(CREBBP): c.2122_ 2123delCT (p.Leu708Valfs)deletionPathogenicrs587783470GRCh37Chr 16, 3827649: 3827650
9CREBBPNM_ 004380.2(CREBBP): c.2535C> A (p.Cys845Ter)SNVPathogenicrs587783471GRCh37Chr 16, 3820916: 3820916
10CREBBPNM_ 004380.2(CREBBP): c.2606_ 2607delTC (p.Leu869Profs)deletionPathogenicrs587783473GRCh37Chr 16, 3820844: 3820845
11CREBBPNM_ 004380.2(CREBBP): c.2791C> T (p.Gln931Ter)SNVPathogenicrs587783475GRCh37Chr 16, 3820660: 3820660
12CREBBPNM_ 004380.2(CREBBP): c.286C> T (p.Gln96Ter)SNVPathogenicrs587783476GRCh37Chr 16, 3900810: 3900810
13CREBBPNM_ 004380.2(CREBBP): c.299delG (p.Gly100Valfs)deletionPathogenicrs587783477GRCh37Chr 16, 3900797: 3900797
14CREBBPNM_ 004380.2(CREBBP): c.316C> T (p.Gln106Ter)SNVPathogenicrs587783478GRCh37Chr 16, 3900780: 3900780
15CREBBPNM_ 004380.2(CREBBP): c.3310C> T (p.Gln1104Ter)SNVPathogenicrs587783479GRCh37Chr 16, 3808914: 3808914
16CREBBPNM_ 004380.2(CREBBP): c.3369+1G> TSNVPathogenicrs587783480GRCh37Chr 16, 3808854: 3808854
17CREBBPNM_ 004380.2(CREBBP): c.3500A> G (p.Tyr1167Cys)SNVLikely pathogenicrs587783481GRCh37Chr 16, 3807919: 3807919
18CREBBPNM_ 004380.2(CREBBP): c.3613G> T (p.Glu1205Ter)SNVPathogenicrs587783482GRCh37Chr 16, 3807374: 3807374
19CREBBPNM_ 004380.2(CREBBP): c.3779+1G> ASNVPathogenicrs587783483GRCh37Chr 16, 3801726: 3801726
20CREBBPNM_ 004380.2(CREBBP): c.37A> G (p.Lys13Glu)SNVLikely pathogenicrs587783484GRCh37Chr 16, 3929881: 3929881
21CREBBPNM_ 004380.2(CREBBP): c.3836+1G> ASNVPathogenicrs200782888GRCh37Chr 16, 3799627: 3799627
22CREBBPNM_ 004380.2(CREBBP): c.3914+3G> TSNVLikely pathogenicrs587783485GRCh37Chr 16, 3795275: 3795275
23CREBBPNM_ 004380.2(CREBBP): c.3983-2A> GSNVPathogenicrs587783486GRCh37Chr 16, 3790552: 3790552
24CREBBPNM_ 004380.2(CREBBP): c.4022G> C (p.Arg1341Pro)SNVLikely pathogenicrs587783488GRCh37Chr 16, 3790511: 3790511
25CREBBPNM_ 004380.2(CREBBP): c.4045C> T (p.Gln1349Ter)SNVPathogenicrs587783489GRCh37Chr 16, 3790488: 3790488
26CREBBPNM_ 004380.2(CREBBP): c.4078C> T (p.Arg1360Ter)SNVPathogenicrs587783490GRCh37Chr 16, 3790455: 3790455
27CREBBPNM_ 004380.2(CREBBP): c.4133+1G> ASNVPathogenicrs587783491GRCh37Chr 16, 3790399: 3790399
28CREBBPNM_ 004380.2(CREBBP): c.4226T> C (p.Phe1409Ser)SNVLikely pathogenicrs587783492GRCh37Chr 16, 3789633: 3789633
29CREBBPNM_ 004380.2(CREBBP): c.4281-11C> GSNVLikely pathogenicrs587783493GRCh37Chr 16, 3788684: 3788684
30CREBBPNM_ 004380.2(CREBBP): c.4376A> G (p.Glu1459Gly)SNVLikely pathogenicrs587783494GRCh37Chr 16, 3788578: 3788578
31CREBBPNM_ 004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter)SNVPathogenicrs147688139GRCh37Chr 16, 3786813: 3786813
32CREBBPNM_ 004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp)SNVPathogenicrs587783495GRCh37Chr 16, 3786767: 3786767
33CREBBPNM_ 004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys)SNVLikely pathogenicrs587783496GRCh37Chr 16, 3786766: 3786766
34CREBBPNM_ 004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys)SNVPathogenicrs587783497GRCh37Chr 16, 3786703: 3786703
35CREBBPNM_ 004380.2(CREBBP): c.4689delG (p.Lys1565Argfs)deletionPathogenicrs587783499GRCh37Chr 16, 3786076: 3786076
36CREBBPNM_ 004380.2(CREBBP): c.4792delA (p.Ser1598Alafs)deletionPathogenicrs587783500GRCh37Chr 16, 3781875: 3781875
37CREBBPNM_ 004380.2(CREBBP): c.5050T> C (p.Ser1684Pro)SNVLikely pathogenicrs587783503GRCh37Chr 16, 3781315: 3781315
38CREBBPNM_ 004380.2(CREBBP): c.5821C> T (p.Gln1941Ter)SNVPathogenicrs587783505GRCh37Chr 16, 3779227: 3779227
39CREBBPNM_ 004380.2(CREBBP): c.5834_ 5844delCCCCACCCCCG (p.Pro1945Argfs)deletionPathogenicrs587783506GRCh37Chr 16, 3779204: 3779214
40CREBBPNM_ 004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs)deletionPathogenicrs587783507GRCh37Chr 16, 3779211: 3779211
41CREBBPNM_ 004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs)deletionPathogenicrs587783508GRCh37Chr 16, 3779179: 3779179
42CREBBPNM_ 004380.2(CREBBP): c.598C> T (p.Gln200Ter)SNVPathogenicrs587783509GRCh37Chr 16, 3900498: 3900498
43CREBBPNM_ 004380.2(CREBBP): c.6088C> T (p.Gln2030Ter)SNVPathogenicrs587783510GRCh37Chr 16, 3778960: 3778960
44CREBBPNM_ 004380.2(CREBBP): c.6130_ 6171del42 (p.Ala2044_ Gln2057del)deletionLikely pathogenicrs587783511GRCh37Chr 16, 3778877: 3778918
45CREBBPNM_ 004380.2(CREBBP): c.86-2A> CSNVPathogenicrs587783515GRCh37Chr 16, 3901012: 3901012
46CREBBPNM_ 004380.2(CREBBP): c.953C> A (p.Ser318Ter)SNVPathogenicrs587783516GRCh37Chr 16, 3860626: 3860626
47CREBBPNM_ 004380.2(CREBBP): c.2685delC (p.Gln897Argfs)deletionPathogenicrs794727124GRCh37Chr 16, 3820766: 3820766
48CREBBPNM_ 004380.2(CREBBP): c.3993delC (p.Thr1332Glnfs)deletionPathogenicrs794727391GRCh38Chr 16, 3740539: 3740539
49CREBBPNM_ 004380.2(CREBBP): c.5614A> G (p.Met1872Val)SNVLikely pathogenicrs797045037GRCh37Chr 16, 3779434: 3779434
50CREBBPNM_ 004380.2(CREBBP): c.(?_ -23)_ 85+?deldeletionPathogenicGRCh38Chr 16, 3879832: 3879939
51CREBBPNM_ 004380.2(CREBBP): c.2178dupC (p.Met727Hisfs)duplicationPathogenicrs797045483GRCh37Chr 16, 3824675: 3824675
52CREBBPNM_ 004380.2(CREBBP): c.2679_ 2690delGTCTTCCGGGCAinsCC (p.Ser894Argfs)indelPathogenicrs797045484GRCh38Chr 16, 3770760: 3770771
53CREBBPNM_ 004380.2(CREBBP): c.2810dupC (p.Ser938Valfs)duplicationPathogenicrs797045485GRCh37Chr 16, 3820641: 3820641
54CREBBPNM_ 004380.2(CREBBP): c.282dupC (p.Val95Argfs)duplicationPathogenicrs797045486GRCh37Chr 16, 3900814: 3900814
55CREBBPNM_ 004380.2(CREBBP): c.2T> A (p.Met1Lys)SNVPathogenicrs797045487GRCh37Chr 16, 3929916: 3929916
56CREBBPNM_ 004380.2(CREBBP): c.3077_ 3085delTGCAAGGAGinsAA (p.Leu1026Terfs)indelPathogenicrs797045488GRCh38Chr 16, 3767885: 3767893
57CREBBPNM_ 004380.2(CREBBP): c.3436C> T (p.Gln1146Ter)SNVPathogenicrs797045489GRCh37Chr 16, 3807983: 3807983
58CREBBPNM_ 004380.2(CREBBP): c.3461dupT (p.Asp1155Glyfs)duplicationPathogenicrs797045490GRCh38Chr 16, 3757957: 3757957
59CREBBPNM_ 004380.2(CREBBP): c.348_ 349dupTG (p.Ala117Valfs)duplicationPathogenicrs797045491GRCh37Chr 16, 3900747: 3900748
60CREBBPNM_ 004380.2(CREBBP): c.3490G> C (p.Ala1164Pro)SNVLikely pathogenicrs797045492GRCh37Chr 16, 3807929: 3807929
61CREBBPNM_ 004380.2(CREBBP): c.4281G> T (p.Arg1427Ser)SNVLikely pathogenicrs797045494GRCh38Chr 16, 3738672: 3738672
62CREBBPNM_ 004380.2(CREBBP): c.5027G> A (p.Trp1676Ter)SNVPathogenicrs797045495GRCh38Chr 16, 3731337: 3731337
63CREBBPNM_ 004380.2(CREBBP): c.5412C> A (p.His1804Gln)SNVLikely pathogenicrs797045496GRCh37Chr 16, 3779636: 3779636
64CREBBPNM_ 004380.2(CREBBP): c.5837dupC (p.Pro1947Thrfs)duplicationPathogenicrs797045497GRCh37Chr 16, 3779211: 3779211
65CREBBPNM_ 004380.2(CREBBP): c.5936_ 5937insT (p.Ser1980Glnfs)insertionPathogenicrs797045498GRCh38Chr 16, 3729110: 3729111
66CREBBPNM_ 004380.2(CREBBP): c.6107_ 6116delCCAGGCCTGT (p.Pro2036Argfs)deletionPathogenicrs797045499GRCh38Chr 16, 3728931: 3728940
67CREBBPNM_ 004380.2(CREBBP): c.6395_ 6417dup23 (p.Gln2140Alafs)duplicationPathogenicrs797045500GRCh38Chr 16, 3728630: 3728652
68CREBBPNM_ 004380.2(CREBBP): c.827_ 828dupTT (p.Gly277Leufs)duplicationPathogenicrs797045502GRCh38Chr 16, 3810750: 3810751
69CREBBPNM_ 004380.2(CREBBP): c.86-1G> TSNVPathogenicrs11644721GRCh37Chr 16, 3901011: 3901011
70CREBBPNM_ 004380.2(CREBBP): c.4134-1G> TSNVLikely pathogenicrs886041048GRCh38Chr 16, 3739725: 3739725
71CREBBPNG_ 009873.1: g.(?_ 5000)_ (160068_ ?)deldeletionPathogenicGRCh38Chr 16, 3725053: 3880121
72CREBBPNM_ 004380.2(CREBBP): c.406C> T (p.Gln136Ter)SNVPathogenicrs121434624GRCh37Chr 16, 3900690: 3900690
73CREBBPNM_ 004380.2(CREBBP): c.1069C> T (p.Gln357Ter)SNVPathogenicrs121434625GRCh37Chr 16, 3843534: 3843534
74CREBBPNM_ 004380.2(CREBBP): c.4133G> C (p.Arg1378Pro)SNVPathogenicrs121434626GRCh37Chr 16, 3790400: 3790400
75CREBBPCREBBP, 2-BP DEL, NT5222deletionPathogenic
76CREBBPNM_ 004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys)SNVPathogenicrs28937315GRCh37Chr 16, 3807895: 3807895
77CREBBPNM_ 004380.2(CREBBP): c.3832G> A (p.Glu1278Lys)SNVPathogenicrs267606752GRCh37Chr 16, 3799632: 3799632
78CREBBPCREBBP, IVS21, A-T, -2SNVPathogenic

Copy number variations for Rubinstein-Taybi Syndrome from CNVD:

6 (show all 14)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1138091616300000Copy numberCREBBPRubinstein-Taybi syndrome
2973371616300000Copy numberCREBBPRubinstein-Taybi syndrome
3973381616300000Copy numberCREBBPRubinstein-Taybi syndrome
4973431616300000DeletionCREB-bindingRubinstein-Taybi syndrome
5973441616300000DeletiongeneRubinstein-Taybi syndrome
6973451616300000DeletionproteinRubinstein-Taybi syndrome
7973611616300000MicrodeletionRubinstein-Taybi syndrome
8973621616300000MicrodeletionRubinstein-Taybi syndrome
91014121636510833771464MicrodeletionCrebbpRubinstein-Taybi syndrome
101014131636510833771464MicrodeletionTrap1Rubinstein-Taybi syndrome
111014331637150563870122Copy numberCREBBPRubinstein-Taybi syndrome
121014521637263273728439DeletionCREBBPRubinstein-Taybi syndrome
13164836223989291339898247DeletionEP300Rubinstein-Taybi syndrome
1422242871520000019500000MicrodeletionRubinstein-Taybi syndrome

Expression for genes affiliated with Rubinstein-Taybi Syndrome

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Search GEO for disease gene expression data for Rubinstein-Taybi Syndrome.

Pathways for genes affiliated with Rubinstein-Taybi Syndrome

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Pathways related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:

(show all 27)
idSuper pathwaysScoreTop Affiliating Genes
19.9CREBBP, EP300
29.9CREBBP, EP300
39.9CREBBP, EP300
4
Show member pathways
9.9CREBBP, EP300
59.9CREBBP, EP300
69.9CREB1, CREBBP
7
Show member pathways
9.6CREB1, CREBBP, EP300
89.6CREB1, CREBBP, EP300
9
Show member pathways
9.6CREB1, CREBBP, EP300
109.6CREB1, CREBBP, EP300
11
Show member pathways
9.6CREB1, CREBBP, EP300
129.6CREB1, CREBBP, EP300
139.6CREB1, CREBBP, EP300
149.6CREB1, CREBBP, EP300
159.6CREB1, CREBBP, EP300
169.6CREB1, CREBBP, EP300
17
Show member pathways
9.6CREB1, CREBBP, EP300
189.6CREB1, CREBBP, EP300
199.6CREBBP, EP300, SRCAP
209.5CREBBP, EP300, GAS1
21
Show member pathways
9.3ADCY9, CREB1, CREBBP, EP300
22
Show member pathways
9.3ADCY9, CREB1, CREBBP, EP300
23
Show member pathways
9.3CREBBP, EP300, IL11RA
24
Show member pathways
9.3ADCY9, CREB1, CREBBP, EP300
259.3ADCY9, CREB1, CREBBP, EP300
269.1CREB1, CREBBP, EP300, MECP2
27
Show member pathways
8.8ADCY9, CREB1, CREBBP, EP300, GAS1

GO Terms for genes affiliated with Rubinstein-Taybi Syndrome

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Cellular components related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone acetyltransferase complexGO:00001239.9CREBBP, EP300

Biological processes related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1N-terminal peptidyl-lysine acetylationGO:001807610.6CREBBP, EP300
2protein acetylationGO:000647310.6CREBBP, EP300
3regulation of smoothened signaling pathwayGO:000858910.4CREBBP, GAS1
4rhythmic processGO:004851110.3CREB1, CREBBP, EP300
5response to hypoxiaGO:00016669.8CREB1, CREBBP, EP300, MECP2
6histone acetylationGO:00165739.7CREBBP, EP300, MECP2, SRCAP
7viral processGO:00160329.3CREB1, CREBBP, EP300, SRCAP

Molecular functions related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acetyltransferase activityGO:001640710.6CREBBP, EP300
2peptide N-acetyltransferase activityGO:003421210.6CREBBP, EP300
3RNA polymerase II activating transcription factor bindingGO:000110210.3CREB1, CREBBP, EP300
4transcription cofactor activityGO:000371210.2CREB1, CREBBP, EP300
5histone acetyltransferase activityGO:000440210.2CREBBP, EP300, SRCAP
6transcription factor bindingGO:00081349.1CREB1, CREBBP, EP300, MECP2

Sources for Rubinstein-Taybi Syndrome

About this section
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