PedAM

Pediatric Disease Annotations & Medicines


	rubinstein-taybi syndrome

Disease ID	60
Disease	rubinstein-taybi syndrome
Definition	A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
Synonym	broad thumb hallux syndrome broad thumb-hallux syndrome broad thumb-hallux syndromes broad thumbs and great toes, characteristic facies, and mental retardation rsts1 rubenstein taybi syndrome rubenstein-taybi syndrome rubinstein syndrome rubinstein taybi syndrome rubinstein taybis syndrome rubinstein-taybi syndrome (disorder) rubinstein-taybi syndrome 1 rubinstein-taybi syndrome [disease/finding] syndrome rubinstein taybi syndrome, broad thumb-hallux syndrome, rubinstein syndrome, rubinstein-taybi syndromes, broad thumb-hallux
Orphanet	ORPHANET:783
OMIM	OMIM:180849
DOID	DOID:1933
UMLS	C0035934
MeSH	D012415
SNOMED-CT	SNOMEDCT_US_2016_09_01:45582004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0020302 \| infantile glaucoma \| 2 C0017601 \| glaucoma \| 2 C0036439 \| scoliosis \| 2 C0206624 \| hepatoblastoma \| 1 C0730290 \| cone dystrophy \| 1 C0476089 \| endometrial ca \| 1 C0013338 \| growth hormone deficiency \| 1 C0027121 \| myositis \| 1 C0476089 \| endometrial carcinoma \| 1 C0027122 \| myositis ossificans \| 1 C0004352 \| autism \| 1 C0029927 \| ovarian cyst \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) CREBBP \| 1387 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR EP300 \| 2033 \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1387 \| CREBBP \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:66) 7291 \| TWIST1 \| DISEASES 1773 \| DNASE1 \| DISEASES 10343 \| PKDREJ \| DISEASES 1387 \| CREBBP \| DISEASES 10847 \| SRCAP \| DISEASES 10133 \| OPTN \| DISEASES 2033 \| EP300 \| DISEASES 50937 \| CDON \| DISEASES 4036 \| LRP2 \| DISEASES 119 \| ADD2 \| DISEASES 7994 \| KAT6A \| DISEASES 6595 \| SMARCA2 \| DISEASES 7008 \| TEF \| DISEASES 285362 \| SUMF1 \| DISEASES 6872 \| TAF1 \| DISEASES 25836 \| NIPBL \| DISEASES 23522 \| KAT6B \| DISEASES 115 \| ADCY9 \| DISEASES 6469 \| SHH \| DISEASES 5885 \| RAD21 \| DISEASES 55582 \| KIF27 \| DISEASES 2619 \| GAS1 \| DISEASES 92292 \| GLYATL1 \| DISEASES 9839 \| ZEB2 \| DISEASES 150468 \| CKAP2L \| DISEASES 4281 \| MID1 \| DISEASES 51715 \| RAB23 \| DISEASES 8243 \| SMC1A \| DISEASES 3590 \| IL11RA \| DISEASES 84679 \| SLC9A7 \| DISEASES 9573 \| GDF3 \| DISEASES 8338 \| HIST2H2AC \| DISEASES 5727 \| PTCH1 \| DISEASES 3091 \| HIF1A \| DISEASES 2290 \| FOXG1 \| DISEASES 10524 \| KAT5 \| DISEASES 57492 \| ARID1B \| DISEASES 6597 \| SMARCA4 \| DISEASES 4763 \| NF1 \| DISEASES 157680 \| VPS13B \| DISEASES 9126 \| SMC3 \| DISEASES 10370 \| CITED2 \| DISEASES 8349 \| HIST2H2BE \| DISEASES 8337 \| HIST2H2AA3 \| DISEASES 51684 \| SUFU \| DISEASES 10479 \| SLC9A6 \| DISEASES 860 \| RUNX2 \| DISEASES 8643 \| PTCH2 \| DISEASES 5456 \| POU3F4 \| DISEASES 546 \| ATRX \| DISEASES 55869 \| HDAC8 \| DISEASES 2304 \| FOXE1 \| DISEASES 54880 \| BCOR \| DISEASES 4038 \| LRP4 \| DISEASES 5080 \| PAX6 \| DISEASES 7020 \| TFAP2A \| DISEASES 6792 \| CDKL5 \| DISEASES 10284 \| SAP18 \| DISEASES 374654 \| KIF7 \| DISEASES 1385 \| CREB1 \| DISEASES 55636 \| CHD7 \| DISEASES 4204 \| MECP2 \| DISEASES 64324 \| NSD1 \| DISEASES 3483 \| IGFALS \| DISEASES 23741 \| EID1 \| DISEASES 388015 \| RTL1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	60
Disease	rubinstein-taybi syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:45) HP:0000369 \| Low-set ears HP:0001385 \| Hip dysplasia HP:0000739 \| Anxiety HP:0002230 \| Generalized hirsutism HP:0002019 \| Constipation HP:0005306 \| Capillary hemangiomas HP:0000164 \| Abnormality of the teeth HP:0001263 \| Global developmental delay HP:0006101 \| Finger syndactyly HP:0000987 \| Atypical scarring of skin HP:0000286 \| Epicanthus HP:0000670 \| Carious teeth HP:0005692 \| Joint hyperflexibility HP:0010562 \| Keloids HP:0004322 \| Short stature HP:0001156 \| Brachydactyly syndrome HP:0000347 \| Micrognathia HP:0011304 \| Broad thumb HP:0000501 \| Glaucoma HP:0000486 \| Strabismus HP:0001250 \| Seizures HP:0004209 \| Clinodactyly of the 5th finger HP:0002093 \| Respiratory insufficiency HP:0000508 \| Ptosis HP:0000365 \| Hearing impairment HP:0000431 \| Wide nasal bridge HP:0000737 \| Irritability HP:0002553 \| Highly arched eyebrow HP:0010059 \| Broad hallux phalanx HP:0000316 \| Hypertelorism HP:0000506 \| Telecanthus HP:0002564 \| Malformation of the heart and great vessels HP:0000028 \| Cryptorchidism HP:0001531 \| Failure to thrive in infancy HP:0000444 \| Convex nasal ridge HP:0001561 \| Polyhydramnios HP:0007018 \| Attention deficit hyperactivity disorder HP:0000494 \| Downslanted palpebral fissures HP:0008872 \| Feeding difficulties in infancy HP:0000252 \| Microcephaly HP:0001249 \| Intellectual disability HP:0100760 \| Clubbing of toes HP:0000218 \| High palate HP:0009832 \| Abnormality of the distal phalanx of finger HP:0000579 \| Nasolacrimal duct obstruction
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0000501 \| Glaucoma \| 2 HP:0001087 \| Childhood glaucoma \| 2 HP:0002650 \| Scoliosis \| 2 HP:0000717 \| Autism \| 1 HP:0001274 \| Absent corpus callosum \| 1 HP:0012114 \| Endometrial carcinoma \| 1 HP:0000138 \| Ovarian cyst \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0009836 \| Broad terminal phalanges \| 1 HP:0000824 \| Growth hormone deficiency \| 1 HP:0002308 \| Chiari malformation \| 1 HP:0000556 \| Retinal dystrophy \| 1 HP:0002884 \| Hepatoblastoma \| 1 HP:0010562 \| Keloids \| 1

Disease ID	60
Disease	rubinstein-taybi syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:15) C0376293 \| stigmata C0311237 \| goniodysgenesis C0206724 \| sex cord stromal tumor C0206711 \| pilomatrixomas C0205834 \| multiple meningiomas C0149887 \| slipped capital femoral epiphysis C0033838 \| kimura disease C0029166 \| oral manifestations C0025958 \| microcephaly C0022596 \| palmoplantar keratoderma C0020302 \| congenital glaucoma C0017152 \| gastritis C0013261 \| duane retraction syndrome C0010964 \| dandy-walker malformation C0010308 \| congenital hypothyroidism
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0149887 \| slipped capital femoral epiphysis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:75)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs11644721	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3851010	C	T
rs121434624	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3850689	G	C,A
rs121434625	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3793533	G	A
rs121434626	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3740399	C	G
rs143247685	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3770722	T	A,C
rs147688139	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3736812	A	G,T
rs200782888	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3749626	C	T
rs267606752	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3749631	C	T
rs28937315	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3757894	T	C
rs28937315	25388907	1387	CREBBP	umls:C0035934	UNIPROT	Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.	0.589289435	2014	CREBBP	16	3757894	T	C
rs587783460	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3793539	G	A
rs587783461	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3793446	G	A
rs587783463	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3792054	C	T
rs587783464	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3792041	G	A
rs587783465	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3781290	G	-
rs587783467	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3780734	T	-
rs587783469	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3778098	G	-
rs587783470	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3777648	AG	-
rs587783471	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3770915	G	T
rs587783473	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3770843	GA	-
rs587783475	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3770659	G	A
rs587783476	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3850809	G	A
rs587783477	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3850796	C	-
rs587783478	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3850779	G	A
rs587783479	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3758913	G	A
rs587783480	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3758853	C	A
rs587783481	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3757918	T	C
rs587783482	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3757373	C	A
rs587783483	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3751725	C	T
rs587783484	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3879880	T	C
rs587783485	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3745274	C	T,A
rs587783486	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3740551	T	C
rs587783488	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3740510	C	G
rs587783489	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3740487	G	A
rs587783490	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3740454	G	A
rs587783491	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3740398	C	T
rs587783492	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3739632	A	G
rs587783493	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3738683	G	C
rs587783494	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3738577	T	C
rs587783495	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3736766	A	C
rs587783496	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3736765	T	C
rs587783497	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3736702	T	C
rs587783499	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3736075	C	-
rs587783500	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3731874	T	-
rs587783503	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3731314	A	G
rs587783505	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3729226	G	A
rs587783506	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3729203	CGGGGGTGGGG	-
rs587783507	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3729210	G	-
rs587783508	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3729178	C	-
rs587783509	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3850497	G	A
rs587783510	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3728959	G	A
rs587783511	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3728876	CTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGC	-
rs587783515	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3851011	T	G
rs587783516	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3810625	G	T
rs794727124	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3770765	G	-
rs794727391	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3740539	G	-
rs797045037	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3729433	T	C
rs797045483	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3774673	-	G
rs797045484	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3770760	TGCCCGGAAGAC	GG
rs797045485	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3770639	-	G
rs797045486	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3850812	-	G
rs797045487	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3879915	A	T
rs797045488	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3767885	CTCCTTGCA	TT
rs797045489	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3757982	G	A
rs797045490	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3757956	-	A
rs797045491	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3850745	-	CA
rs797045492	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3757928	C	G
rs797045494	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3738672	C	A
rs797045495	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3731337	C	T
rs797045496	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3729635	G	T
rs797045497	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3729209	-	G
rs797045498	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3729110	-	A
rs797045499	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3728931	ACAGGCCTGG	-
rs797045500	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3728629	-	CAGGCTGGGCTGCTGGTGCATGC
rs797045502	NA	1387	CREBBP	umls:C0035934	CLINVAR	NA	0.589289435	NA	CREBBP	16	3810749	-	AA

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004209	Clinodactyly of the 5th finger	MP:0003694	failure of blastocyst to hatch from the zona pellucida;HP:0000174	Abnormality of the palate

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000501	Glaucoma	MP:0000010	abnormal abdominal fat pad morphology;HP:0004209	Clinodactyly of the 5th finger

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)