Tatton-Brown-Rahman Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

TBRS MCID: TTT001 MIFTS: 44	Tatton-Brown-Rahman Syndrome (TBRS) Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Tatton-Brown-Rahman Syndrome

MalaCards integrated aliases for Tatton-Brown-Rahman Syndrome:

Name: Tatton-Brown-Rahman Syndrome ⁵⁷ ⁵⁸ ⁷² ³⁶ ²⁹ ⁶ ³⁹ ⁷⁰

Tbrs ⁵⁷ ⁷²

Tatton-Brown-Rahman Overgrowth Syndrome ⁵⁸

Dnmt3a-Related Overgrowth Syndrome ⁵⁸

Dnmt3a Overgrowth Syndrome ⁷²

Characteristics:

Orphanet epidemiological data:

⁵⁸

tatton-brown-rahman syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation

HPO:

³¹

tatton-brown-rahman syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes involving early overgrowth

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 615879

KEGG ³⁶ H02294

MeSH ⁴⁴ D006130 D008607

ICD10 via Orphanet ³³ Q87.3

Orphanet ⁵⁸ ORPHA404443

MedGen ⁴¹ C4014545 CN189716

UMLS ⁷⁰ C4014545

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Summaries for Tatton-Brown-Rahman Syndrome

OMIM® : ⁵⁷ Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and impaired intellectual development (Tatton-Brown et al., 2014). Some patients may have increased susceptibility to the development of acute myeloid leukemia (AML; 601626), particularly if they have DNMT3A mutations affecting the R882 residue (Hollink et al., 2017). (615879) (Updated 20-May-2021)

MalaCards based summary : Tatton-Brown-Rahman Syndrome, also known as tbrs, is related to rahman syndrome and dnmt3a overgrowth syndrome. An important gene associated with Tatton-Brown-Rahman Syndrome is DNMT3A (DNA Methyltransferase 3 Alpha), and among its related pathways/superpathways is Cysteine and methionine metabolism. The drugs Lamivudine and Dolutegravir have been mentioned in the context of this disorder. Affiliated tissues include myeloid, pituitary and brain, and related phenotypes are umbilical hernia and atrial septal defect

KEGG : ³⁶ Tatton-Brown-Rahman syndrome (TBRS) is a recently identified form of overgrowth syndrome, characterized by intellectual disabilities and facial feature. Mutations in the DNA methyltransferase gene DNMT3A cause TBRS. DNA methylation plays a critical role in both embryonic development and tumorigenesis.

UniProtKB/Swiss-Prot : ⁷² Tatton-Brown-Rahman syndrome: An overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis.

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Related Diseases for Tatton-Brown-Rahman Syndrome

Diseases related to Tatton-Brown-Rahman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)

#	Related Disease	Score	Top Affiliating Genes
1	rahman syndrome	30.1	EIF3F DPP6 DNMT3A
2	dnmt3a overgrowth syndrome	11.7
3	hist1h1e syndrome	10.8
4	alacrima, achalasia, and mental retardation syndrome	10.8
5	overgrowth syndrome	10.8
6	autism	10.4
7	leukemia, acute myeloid	10.4
8	autism spectrum disorder	10.4
9	myeloid leukemia	10.4
10	hypotonia	10.4
11	umbilical hernia	10.3
12	ventricular septal defect	10.3
13	heart septal defect	10.3
14	diaphragmatic hernia, congenital	10.3
15	attention deficit-hyperactivity disorder	10.3
16	medulloblastoma	10.3
17	mental retardation, autosomal dominant 56	10.3
18	speech and communication disorders	10.3
19	sleep apnea	10.3
20	scoliosis	10.3
21	lymphoblastic lymphoma	10.3
22	acromegaly	10.3
23	gingivitis	10.3
24	pituitary adenoma	10.3
25	ganglioneuroblastoma	10.3
26	adenoma	10.3
27	central sleep apnea	10.3
28	ezh2-related overgrowth	10.3
29	hypermobile ehlers-danlos syndrome	10.3
30	dwarfism	10.3
31	pure autonomic failure	10.3
32	autonomic dysfunction	10.3
33	cerebral atrophy	10.3
34	acute pancreatitis	10.0
35	disease of mental health	9.1	EIF3F DPP6 DNMT3A

Graphical network of the top 20 diseases related to Tatton-Brown-Rahman Syndrome:

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Symptoms & Phenotypes for Tatton-Brown-Rahman Syndrome

Human phenotypes related to Tatton-Brown-Rahman Syndrome:

⁵⁸ ³¹ (show all 49)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	umbilical hernia ⁵⁸ ³¹	occasional (7.5%)	Very rare (<4-1%)	HP:0001537
2	atrial septal defect ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001631
3	scoliosis ³¹	occasional (7.5%)		HP:0002650
4	seizure ³¹	occasional (7.5%)		HP:0001250
5	macrocephaly ⁵⁸ ³¹		Very frequent (99-80%)	HP:0000256
6	round face ⁵⁸ ³¹		Occasional (29-5%)	HP:0000311
7	narrow palpebral fissure ⁵⁸ ³¹		Occasional (29-5%)	HP:0045025
8	intellectual disability ³¹			HP:0001249
9	seizures ⁵⁸		Occasional (29-5%)
10	developmental regression ⁵⁸		Occasional (29-5%)
11	coarse facial features ⁵⁸		Occasional (29-5%)
12	hypertelorism ⁵⁸		Very rare (<4-1%)
13	behavioral abnormality ⁵⁸		Frequent (79-30%)
14	mandibular prognathia ⁵⁸		Very rare (<4-1%)
15	thick eyebrow ⁵⁸		Occasional (29-5%)
16	intellectual disability, mild ⁵⁸		Occasional (29-5%)
17	intellectual disability, severe ⁵⁸		Occasional (29-5%)
18	cryptorchidism ⁵⁸		Occasional (29-5%)
19	anxiety ⁵⁸		Occasional (29-5%)
20	obesity ⁵⁸		Frequent (79-30%)
21	short toe ⁵⁸		Occasional (29-5%)
22	kyphoscoliosis ⁵⁸		Frequent (79-30%)
23	mitral regurgitation ⁵⁸		Very rare (<4-1%)
24	joint hypermobility ⁵⁸		Occasional (29-5%)
25	patent ductus arteriosus ⁵⁸		Very rare (<4-1%)
26	deep philtrum ⁵⁸		Very rare (<4-1%)
27	ventriculomegaly ⁵⁸		Occasional (29-5%)
28	intellectual disability, moderate ⁵⁸		Frequent (79-30%)
29	bipolar affective disorder ⁵⁸		Very rare (<4-1%)
30	schizophrenia ⁵⁸		Occasional (29-5%)
31	blepharophimosis ³¹			HP:0000581
32	arnold-chiari malformation ⁵⁸		Occasional (29-5%)
33	tall stature ³¹			HP:0000098
34	short columella ⁵⁸		Very rare (<4-1%)
35	tricuspid regurgitation ⁵⁸		Very rare (<4-1%)
36	aortic root aneurysm ⁵⁸		Very rare (<4-1%)
37	aggressive behavior ⁵⁸		Very rare (<4-1%)
38	encephalomalacia ³¹			HP:0040197
39	generalized hypotonia ³¹			HP:0001290
40	optic nerve hypoplasia ³¹			HP:0000609
41	proportionate short stature ⁵⁸		Very rare (<4-1%)
42	myeloid leukemia ⁵⁸		Very rare (<4-1%)
43	infantile muscular hypotonia ⁵⁸		Frequent (79-30%)
44	neuroendocrine neoplasm ⁵⁸		Very rare (<4-1%)
45	arnold-chiari type i malformation ³¹			HP:0007099
46	proportionate tall stature ⁵⁸		Very frequent (99-80%)
47	widely-spaced maxillary central incisors ⁵⁸		Occasional (29-5%)
48	widely spaced toes ⁵⁸		Occasional (29-5%)
49	supraventricular tachycardia with an accessory connection mediated pathway ⁵⁸		Very rare (<4-1%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Abdomen External Features:
umbilical hernia

Neurologic Central Nervous System:
encephalomalacia
optic nerve hypoplasia
hypotonia
chiari i malformation
seizures (less common)
more

Skeletal:
hypermobile joints

Cardiovascular Heart:
atrial septal defect (less common)

Head And Neck Head:
large head circumference (+2.5 sd)

Head And Neck Face:
round face

Head And Neck Eyes:
narrow palpebral fissures
heavy horizontal eyebrows

Skeletal Spine:
scoliosis (less common)

Growth Height:
tall stature (+3 s.d)

Neoplasia:
increased risk of acute myeloid leukemia, particularly associated with r882 mutations

Clinical features from OMIM®:

615879 (Updated 20-May-2021)

Sources

Drugs & Therapeutics for Tatton-Brown-Rahman Syndrome

Drugs for Tatton-Brown-Rahman Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Lamivudine

Approved, Investigational

Phase 3

134678-17-4

60825

Synonyms:

(-)-(2'R,5'S)-1-[2'-Hydroxymethyl-5'-(1,3-oxathiolanyl)]cytosine

(-)-1-((2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine

(-)-1-[(2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine

(-)-2'-Deoxy-3'-thiacytidine

(-)-BCH 189

(-)-BCH-189

(-)-beta-L-2',3'-Dideoxy-3'-thiacytidine

(-)NGPB-21

(-)-SddC

(+/-) (Cis)-1-[2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine

(+/-)-3TC

(+/-)-BCH-189

(+/-)-SddC

(2R,cis)-4-amino-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one

.beta.-L-(-)-2',3'-dideoxy-3'-thiacytidine & Sho-Saiko-To

134678-17-4

2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S)

2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Galanthus Nivalis Agglutinin (GNA)

2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Hippeastrum hybrid agglutinin( HHA)

2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (+/-) (Cis)

2',3' Dideoxy 3' thiacytidine

2',3'-Dideoxy-3'-thiacytidine

3TC

3TC & GNA

3TC & SST

3TC (AIDS INITIATIVE) (AIDS INITIATIVE)

3TC and NV-01

3TC, Zeffix, Heptovir, Epivir, Epivir-HBV, Lamivudine

3'-Thia-2',3'-dideoxycytidine

480434-79-5

4-Amino-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone

4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one

4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one

AC-1416

AC1L1TZZ

AC1Q6C34

BCH 189

BCH189

BCH-189

BCH-790

beta-L-2',3'-Dideoxy-3'-thiacytidine

beta-L-3'-Thia-2',3'-dideoxycytidine

BIDD:GT0033

Bio-0652

b-L-2',3'-Dideoxy-3'-thiacytidine

b-L-3'-Thia-2',3'-dideoxycytidine

C07065

C8H11N3O3S

CCRIS 9274

CHEBI:133986

CHEMBL141

CID60825

CPD000466319

D00353

D019259

DB00709

DRG-0126

DTHC

Epivir

Epivir (TN)

Epivir(TM)

Epivir-HBV

Epzicom

FT-0082667

GG-714

GR 109714X

GR109714X

GR-109714X

Hepitec

Heptivir

Heptodin

Heptovir

HHA & 3TC

HHA & Lamivudine

HMS2051D21

HSDB 7155

L0217

Lamivir

Lamivudin

Lamivudina

lamivudine

Lamivudine

Lamivudine & GNA

Lamivudine (JAN/USP/INN)

Lamivudine [Usan:Ban:Inn]

Lamivudine [USAN:BAN:INN]

Lamivudine [USAN:INN:BAN]

Lamivudine, (2S-cis)-isomer

Lamivudine, (2S-cis)-Isomer

Lamivudinum

LMV

LS-2107

MLS000759424

MLS001424097

MolPort-002-507-347

NCGC00159341-03

NCGC00159341-04

NSC620753

S1706_Selleck

SAM001246582

SAM002589994

SMR000466319

STK801940

UNII-2T8Q726O95

Zeffix

Zefix

ZINC00012346

Β-L-2',3'-dideoxy-3'-thiacytidine

Β-L-3'-thia-2',3'-dideoxycytidine

Dolutegravir

Approved

Phase 3

1051375-16-6

54726191

Tenofovir

Experimental, Investigational

Phase 3

147127-20-6

464205

Synonyms:

(R)-9-(2-Phosphonomethoxypropyl)adenine

(R)-9-(2-Phosphonylmethoxypropyl)adenine

(R)-PMPA

[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid

147127-20-6

206184-49-8

9-(2-Phosphonomethoxypropyl)adenine

9-(2-Phosphonylmethoxypropyl)adenine

9-(2-Phosphonylmethoxypropyl)adenine, (+-)-isomer

9-(2-Phosphonylmethoxypropyl)adenine, (R)-isomer - T357098

9-(2-Phosphonylmethoxypropyl)adenine, (S)-isomer

9-PMPA (tenofovir)

AC1LA9BO

AC-760

Anh. tenofovir

Anhydrous tenofovir

Apropovir

CHEBI:45809

CHEMBL483

CID464205

D,L-Tenofovir

DB00300

Disoproxil fumarate, tenofovir

Disoproxil, tenofovir

Fumarate, tenofovir disoproxil

GNA & Tenofovir

GS 1275

GS 1278

GS1278

HHA & Tenofovir

KS-5021

MolPort-003-850-411

NCGC00167535-01

Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Galanthus nivalis agglutinin (GNA)

Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Hippeastrum hybrid agglutinin( HHA)

Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- (9CI)

Phosphonic acid, [[2-(6-amino-9H-purin-9

PMPA

PMPA-(R)

S1401_Selleck

TDF

Tenefovir

Tenofovir

Tenofovir (anh.)

Tenofovir (anhydrous)

Tenofovir anhydrous

Tenofovir disoproxil

Tenofovir disoproxil fumarate

TFV

UNII-99YXE507IL

Viread

Viread, Tenofovir

Efavirenz

Approved, Investigational

Phase 2

154598-52-4

64139

Synonyms:

(-)-6-CHLORO-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-2H-3,1-benzoxazin-2-one

(-)-Efavirenz

(4S)-6-chloro-4-(2-cyclopropylethynyl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-2-one

(4S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one

(4S)-6-chloro-4-(cyclopropylethynyl)-4-(trifluoromethyl)-1,4-dihydro-2H-3,1-benzoxazin-2-one

(4S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one

(S)-6-Chloro-4-(2-cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-ben

(S)-6-chloro-4-(Cyclopropylethynyl)-1,4-dihydro-(S)-6-chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one

(S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one

(S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-2H-3,1-benzoxazin-2-one

(S)-6-chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one

(S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one

(S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[D][1,3]oxazin-2-one

154598-52-4

1ikv

1ikw

2H-3,1-Benzoxazin-2-one, 6-chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-, (4S)- (9

6-chloro-4-(2-cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[d][1,3]oxazin-2-one

6-Chloro-4-(2-cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[D][1,3]oxazin-2-one

AC-19049

AC1L20IX

BIDD:GT0383

Bristol-myers squibb brand OF efavirenz

C08088

C14H9ClF3NO2

CHEBI:119486

CHEMBL223228

CID64139

CPD000466351

D00896

DB00625

DB07709

DMP 266

DMP-266

Du pont brand OF efavirenz

efavirenz

Efavirenz

Éfavirenz

Efavirenz (JAN/INN)

Efavirenz, (R)-isomer

efavirenz, (S)-isomer

Efavirenz, (S)-isomer

Efavirenzum

EFV

EFZ

Eravirenz

HMS2051J08

HMS2090N16

HSDB 7163

L 743726

L-741211

L-743,726

L-743725

L-743726

LS-173464

Merck sharp and dohme brand OF efavirenz

Met-SDF-1.beta. & Efavirenz

Met-Stromal Cell-derived Factor-1.beta. (Human) & Efavirenz

MLS000759465

MLS001424087

MolPort-003-983-924

NSC742403

SAM001246667

SBB066062

SMR000466351

Stocrin

Strocin (TM)

Sustiva

Sustiva (TM)

Sustiva (TN)

UNII-JE6H2O27P8

United drug brand OF efavirenz

ZINC02020233

zoxazin-2-one

Emtricitabine

Approved, Investigational

Phase 2

143491-57-0

60877

Synonyms:

(-)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine

(−)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine

(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine

(-)-.beta.-L-FTC

(-)-2',3'-Dideoxy-5-fluoro-3'-thiacytidine

(−)-2'-deoxy-5-fluoro-3'-thiacytidine

(-)-2'-Deoxy-5-fluoro-3'-thiacytidine

(-)-b-2',3'-Dideoxy-5-fluoro-3'-thiacytidine

(-)-beta-2',3'-dideoxy-5-fluoro-3'-thiacytidine

(-)-beta-2',3'-Dideoxy-5-fluoro-3'-thiacytidine

(-)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one

(−)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one

(-)-cis-4-Amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one

(-)-Emtricitabine

(-)-FTC

(−)-FTC

(−)-β-2',3'-dideoxy-5-fluoro-3'-thiacytidine

(-)-Β-2',3'-dideoxy-5-fluoro-3'-thiacytidine

(2R-cis)-4-amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone

(2R-cis)-4-Amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone

.beta.-L-(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine

1-(2-(Hydroxymethyl)oxathiolan-5-yl)-5-fluorocytosine

143491-54-7

143491-57-0

145213-48-5

2',3',5-FTC

2',3'-Dideoxy-5-fluoro-3'-thiacytidine

2'-Deoxy-5-fluoro-3'-oxa-4'-thiocytidine

2'-Deoxy-5-fluoro-3'-thiacytidine

2-FTC

3'-Thia-2'.3'-dideoxy-5-fluorocytidine

4-amino-5-fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one

4-Amino-5-fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one

4-Amino-5-fluoro-1-((2R,5S)-2-hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one

4-Amino-5-fluoro-1-[(2R,5S)-(hydroxymethyl)-1,3-oxathiolan-5-yl]-2(1H)-pyrimidinone

4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one

4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one

524W91

5-fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine

5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine

5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine

5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)[1,3]oxathiolan-5-yl]cytosine

AC1L1U3I

AC1Q4KUB

beta-L-2',3'-dideoxy-5-fluoro-3'-thiacytidine

BW 1592

BW 524W91

BW524W91

BW-524W91

C122114

C12599

C8H10FN3O3S

CHEBI:31536

CHEMBL885

CID60877

Coviracil

Coviracil(TM)

D01199

DB00879

dOTFC

DRG-0208

Emtricitabin

Emtricitabina

Emtricitabine

Emtricitabine (JAN/USAN/INN)

Emtricitabinum

Emtriva

Emtriva (TN)

Emtriva(TM)

FT-0080009

HMS2089I05

HSDB 7337

LS-135838

LS-173184

NCGC00164564-01

Racivir

RCV

SBB066061

TL8000958

UNII-G70B4ETF4S

ZINC03629271

Fludarabine

Approved

Phase 2

21679-14-1, 75607-67-9

30751

Synonyms:

(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

21679-14-1

2-F-ara-A

2-F-ARAA

2F-Ara-AMP

2-fluoro ARA-A

2-Fluoro Ara-A

2-Fluoro-9-beta-D-arabinofuranosyladenine

2-Fluoroadenine arabinoside 5'-monophosphate

2-Fluoroadenine arabinoside 5'-monophosphoric acid

2-Fluoro-ara AMP

9 beta-D-Arabinofuranosyl-2-fluoroadenine monophosphate

9-b-Arabinofuranosyl-2-fluoroadenine-5'-phosphate

9-b-Arabinofuranosyl-2-fluoroadenine-5'-phosphoric acid

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphoric acid)

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphoric acid

9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate

9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphoric acid

9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine

9-beta-D-Arabinofuranosyl-2-fluoroadenine

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphoric acid)

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphoric acid

9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)

9-Β-arabinofuranosyl-2-fluoroadenine-5'-phosphate

9-Β-arabinofuranosyl-2-fluoroadenine-5'-phosphoric acid

9-Β-D-arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)

9-Β-D-arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphoric acid)

9-Β-D-arabinofuranosyl-2-fluoroadenine 5'-monophosphate

9-Β-D-arabinofuranosyl-2-fluoroadenine 5'-monophosphoric acid

AC1LCW8I

AC1Q51CF

Beneflur

C10H12FN5O4

CCRIS 3382

CHEMBL1568

CID657237

CPD000058874

D07966

EINECS 244-525-5

FAMP

FaraA

F-Ara-A

FaraAMP

F-Ara-AMP

Fludara

Fludara, Fludarabine

Fludarabina

Fludarabina [Spanish]

Fludarabine

Fludarabine (INN)

Fludarabine [INN]

Fludarabine 5'-monophosphate

Fludarabine 5'-monophosphoric acid

Fludarabine monophosphate

Fludarabine monophosphoric acid

Fludarabine phosphate

Fludarabine phosphoric acid

Fludarabinum

Fludarabinum [Latin]

Fludura

Fluoro-ara-AMP

Fluradosa

Fluradosa (TN)

FT-0082766

HSDB 6964

I14-4978

LS-15061

MLS000028687

NSC 118218

NSC 118218H

NSC-118218

S1491_Selleck

SAM002548956

SMR000058874

SQ Fludarabine

UNII-1X9VK9O1SC

UNII-P2K93U8740

ZINC04216238

Anti-Infective Agents

Phase 1, Phase 2

Anti-HIV Agents

Phase 1, Phase 2

Antiviral Agents

Phase 1, Phase 2

Reverse Transcriptase Inhibitors

Phase 2

Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination

Phase 2

Cytochrome P-450 Enzyme Inhibitors

Phase 2

Pharmaceutical Solutions

Phase 2

Insulin, Globin Zinc

insulin

Anti-Retroviral Agents

TAK-652

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase III, Randomized, Multicenter, Parallel-group, Non-inferiority Study Evaluating the Efficacy, Safety, and Tolerability of Switching to Dolutegravir Plus Lamivudine in HIV-1 Infected Adults Who Are Virologically Suppressed	Active, not recruiting	NCT03446573	Phase 3	DTG + 3TC;TAF based regimen (TBR)
2	A Proof of Concept, Multiple Dose-Escalating Study to Evaluate the Antiviral Activity, Safety, and Pharmacokinetics of the CCR5 Antagonist TBR 652 in HIV 1-Infected, Antiretroviral Treatment-Experienced, CCR5 Antagonist-Naïve Patients	Completed	NCT01092104	Phase 1, Phase 2	TBR-652;TBR-652 Matching Placebo;TBR-652 50 mg;TBR-652 75 mg;TBR-652 100 mg;TBR-652 150 mg
3	A Phase 2b Randomized, Double-Blind, Double-Dummy Trial of 100 or 200 mg Once-Daily Doses of Cenicriviroc (CVC, TBR 652) or Once-Daily EFV, Each With Open-Label FTC/TDF, in HIV 1-Infected, Antiretroviral Treatment-Naïve, Adult Patients With Only CCR5-Tropic Virus	Completed	NCT01338883	Phase 2	Cenicriviroc 100 mg;Cenicriviroc 200 mg + Truvada;Sustiva + Truvada
4	A Phase 2, Single-Center, Open Label Study of Autologous, Adoptive Cell Therapy Following a Reduced Intensity, Non-myeloablative, Lymphodepleting Induction Regimen in Metastatic Ovarian	Recruiting	NCT03412526	Phase 2	Fludarabine;IL-2
5	A One Year, Randomized, Double-Blind, Placebo-Controlled Study of TBR-760 in Adult Patients With Non-Functioning Pituitary Adenomas	Not yet recruiting	NCT04335357	Phase 2	TBR-760;Placebo
6	Double-Blind 2-Site Randomized Clinical Trial of Neurofeedback for ADHD	Completed	NCT02251743
7	Time in Range (TIR) and Time Below Range (TBR) in Insulin-Treated Elderly Patients With Type 2 Diabetes	Not yet recruiting	NCT04411277
8	A Phase 2b Randomized, Double-Blind, Double-Dummy Trial of 100 or 200 mg Once-Daily Doses of Cenicriviroc (CVC, TBR-652) or Once-Daily EFV, Each With Open-Label FTC/TDF, in HIV-1-Infected, Antiretroviral Treatment-Naïve, Adult Patients With Only CCR5-Tropic Virus	Terminated	NCT01474954

Search NIH Clinical Center for Tatton-Brown-Rahman Syndrome

Sources

Genetic Tests for Tatton-Brown-Rahman Syndrome

Genetic tests related to Tatton-Brown-Rahman Syndrome:

#	Genetic test	Affiliating Genes
1	Tatton-Brown-Rahman Syndrome ²⁹	DNMT3A

Sources

Anatomical Context for Tatton-Brown-Rahman Syndrome

MalaCards organs/tissues related to Tatton-Brown-Rahman Syndrome:

⁴⁰

Myeloid, Pituitary, Brain, Breast, Thyroid, Prostate, Heart

Sources

Publications for Tatton-Brown-Rahman Syndrome

Articles related to Tatton-Brown-Rahman Syndrome:

(show top 50) (show all 229)

#	Title	Authors	PMID	Year
1	The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. ⁵⁷ ⁶ ⁶¹	Shen W...Carey JC	28941052	2017
2	Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. ⁶¹ ⁵⁷ ⁶	Kosaki R...Kosaki K	27991732	2017
3	Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. ⁶ ⁵⁷	Tatton-Brown K...Rahman N	24614070	2014
4	Tatton-Brown-Rahman syndrome: Six individuals with novel features. ⁵⁷ ⁶¹	Balci TB...Carter MT	31961069	2020
5	Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. ⁶¹ ⁵⁷	Hollink IHIM...Wagner A	28432085	2017
6	SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort. ⁶	Tlemsani C...Burglen L	27317772	2016
7	CLTC as a clinically novel gene associated with multiple malformations and developmental delay. ⁵⁷	DeMari J...Lebel RR	26822784	2016
8	DNMT3A mutations in acute myeloid leukemia. ⁶	Ley TJ...Wilson RK	21067377	2010
9	Effect of Formalin Fixation for Near-Infrared Fluorescence Imaging with an Antibody-Dye Conjugate in Head and Neck Cancer Patients. ⁶¹	Kapoor S...Nishio N	33078373	2021
10	The Role of [18F]Fluciclovine PET/CT in the Characterization of High-Risk Primary Prostate Cancer: Comparison with [11C]Choline PET/CT and Histopathological Analysis. ⁶¹	Zanoni L...Fanti S	33805543	2021
11	Near-infrared fluorescence-guided resection of micrometastases derived from esophageal squamous cell carcinoma using a c-Met-targeted probe in a preclinical xenograft model. ⁶¹	Liang M...Shan H	33636245	2021
12	ImmunoPET imaging of human CD8+ T cells with novel 68Ga-labeled nanobody companion diagnostic agents. ⁶¹	Zhao H...Liu J	33563286	2021
13	CXCR4 PET imaging of mantle cell lymphoma using [68Ga]Pentixafor: comparison with [18F]FDG-PET. ⁶¹	Mayerhoefer ME...Haug A	33391493	2021
14	Manipulating Particle Chemistry for Hollow Carbon-based Nanospheres: Synthesis Strategies, Mechanistic Insights, and Electrochemical Applications. ⁶¹	Bin DS...Wan LJ	33284018	2021
15	Evaluation of image quality at the detector's edge of dedicated breast positron emission tomography. ⁶¹	Satoh Y...Onishi H	33462645	2021
16	MRI and 18FET-PET Predict Survival Benefit from Bevacizumab Plus Radiotherapy in Patients with Isocitrate Dehydrogenase Wild-type Glioblastoma: Results from the Randomized ARTE Trial. ⁶¹	Wirsching HG...Weller M	32967939	2021
17	Endoscopic Fluorescence-Guided Surgery for Sinonasal Cancer Using an Antibody-Dye Conjugate. ⁶¹	Hart ZP...Baik FM	31854462	2020
18	Behavioral and dental management of a patient with Tatton-Brown-Rahman syndrome: Case report. ⁶¹	Paz-Alegria MC...Jaramillo-Echeverry A	32815590	2020
19	How fast can people refresh and rehearse information in working memory? ⁶¹	Oberauer K...Souza AS	32562250	2020
20	Fluorescently Labeled Cetuximab-IRDye800 for Guided Surgical Excision of Ameloblastoma: A Proof of Principle Study. ⁶¹	Morlandt AB...Amm HM	32554066	2020
21	[Tatton-Brown-Rahman syndrome associated with the DNMT3A gene: a case report and literature review]. ⁶¹	Chen M...Hao H	33059810	2020
22	Serum uric acid in asymptomatic adults is weakly associated with carotid artery FDG uptake but not intima-media thickness. ⁶¹	Cho YS...Lee KH	30155781	2020
23	Different Spectral Analysis Methods for the Theta/Beta Ratio Calculate Different Ratios But Do Not Distinguish ADHD from Controls. ⁶¹	van Dijk H...Arns M	32436141	2020
24	Accuracy of metabolic volume and total glycolysis among six threshold-based target segmentation algorithms. ⁶¹	Nakaichi T...Yokoyama K	32529551	2020
25	Radiation Dosimetry and Biodistribution of 68Ga-FAPI-46 PET Imaging in Cancer Patients. ⁶¹	Meyer C...Calais J	31836685	2020
26	Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes. ⁶¹	Lane C...Freeth M	31845314	2020
27	Regulation of tartary buckwheat-resistant starch on intestinal microflora in mice fed with high-fat diet. ⁶¹	Zhou Y...Zhou X	32724589	2020
28	A prospective cohort study to analyze the interaction of tumor-to-breast volume in breast conservation therapy versus mastectomy with reconstruction. ⁶¹	Dolen U...Myckatyn TM	32350679	2020
29	Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder. ⁶¹	Yokoi T...Higurashi N	33419997	2020
30	Imaging Inflammation in Atherosclerosis with CXCR4-Directed 68Ga-Pentixafor PET/CT: Correlation with 18F-FDG PET/CT. ⁶¹	Kircher M...Li X	31653710	2020
31	Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. ⁶¹	Tenorio J...Lapunzina P	31685998	2020
32	Characterization of heterogeneity of hypoxia with 18FMISO PET/CT, BOLD fMRI and immunohistochemistry in human breast tumor xenograft: initial study. ⁶¹	Cheng J...Geng D	32286767	2020
33	Acromegaly in the setting of Tatton-Brown-Rahman Syndrome. ⁶¹	Hage C...Salvatori R	31858400	2020
34	On some of the main criticisms of the modal model: Reappraisal from a TBRS perspective. ⁶¹	Plancher G...Barrouillet P	31641994	2020
35	Physician Preceptor Satisfaction and Productivity Across Curricula: A Comparison Between Longitudinal Integrated Clerkships And Traditional Block Rotations. ⁶¹	Krehnbrink M...Latessa R	31762321	2020
36	Nanoscale thermal transport across an GaAs/AlGaAs heterostructure interface. ⁶¹	Gorfien M...Cao J	32206690	2020
37	EEG Theta/Beta Ratio Calculations Differ Between Various EEG Neurofeedback and Assessment Software Packages: Clinical Interpretation. ⁶¹	Kerson C...Monastra VJ	31845611	2020
38	Tissue distribution and bioaccumulation of a novel polyfluoroalkyl benzenesulfonate in crucian carp. ⁶¹	Shi Y...Cai Y	31881427	2020
39	Imaging inflammation in atherosclerotic plaques, targeting SST2 with [111In]In-DOTA-JR11. ⁶¹	Meester EJ...van der Heiden K	32026330	2020
40	Optimal Dosing Strategy for Fluorescence-Guided Surgery with Panitumumab-IRDye800CW in Head and Neck Cancer. ⁶¹	Nishio N...Rosenthal EL	31054001	2020
41	Comparison of a Short Versus Long Stokes Shift Near-Infrared Dye During Intraoperative Molecular Imaging. ⁶¹	Corbett CJ...Singhal S	31820349	2020
42	A Matrix-Correction Approach to Estimate the Bioaccumulation Potential of Emerging PFASs. ⁶¹	Song X...Cai Y	31904951	2020
43	Predictors of 18F-sodium fluoride uptake in patients with stable coronary artery disease and adverse plaque features on computed tomography angiography. ⁶¹	Kwiecinski J...Berman DS	31211387	2020
44	Systemic atherosclerotic plaque vulnerability in patients with Coronary Artery Disease with a single Whole Body FDG PET-CT scan. ⁶¹	Sanchez-Roa PM...Marshall C	32064279	2020
45	Greater aortic inflammation and calcification in abdominal aortic aneurysmal disease than atherosclerosis: a prospective matched cohort study. ⁶¹	Joshi NV...Rudd JHF	32201583	2020
46	Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder. ⁶¹	Yokoi T...Higurashi N	32435502	2020
47	Associations of Alpha and Beta Interhemispheric EEG Coherences with Indices of Attentional Control and Academic Performance. ⁶¹	Gorantla VR...Millis RM	32089751	2020
48	Intraoperative Tumor Assessment Using Real-Time Molecular Imaging in Head and Neck Cancer Patients. ⁶¹	van Keulen S...Rosenthal EL	31568855	2019
49	Cardiovascular 18F-fluoride positron emission tomography-magnetic resonance imaging: A comparison study. ⁶¹	Andrews JPM...Dweck MR	31792913	2019
50	First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln). ⁶¹	Lee CG...Seo JY	31905446	2019

Sources

Genes for Tatton-Brown-Rahman Syndrome

Genes related to Tatton-Brown-Rahman Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DNMT3A	DNA Methyltransferase 3 Alpha	Protein Coding	1705.79	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	24614070 27701732
2	EIF3F	Eukaryotic Translation Initiation Factor 3 Subunit F	Protein Coding	407.6	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	DPP6	Dipeptidyl Peptidase Like 6	Protein Coding	32.6	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)

Sources

Variations for Tatton-Brown-Rahman Syndrome

ClinVar genetic disease variations for Tatton-Brown-Rahman Syndrome:

⁶ (show top 50) (show all 81)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	DNMT3A	NM_022552.5(DNMT3A):c.889_891del (p.Trp297del)	Deletion	Pathogenic	139615	rs587777506	GRCh37: 2:25470583-25470585 GRCh38: 2:25247714-25247716
2	DNMT3A	NM_022552.5(DNMT3A):c.1943T>C (p.Leu648Pro)	SNV	Pathogenic	139616	rs587777507	GRCh37: 2:25464570-25464570 GRCh38: 2:25241701-25241701
3	DNMT3A	NM_022552.5(DNMT3A):c.929T>A (p.Ile310Asn)	SNV	Pathogenic	139617	rs587777508	GRCh37: 2:25470545-25470545 GRCh38: 2:25247676-25247676
4	DNMT3A	NM_022552.5(DNMT3A):c.1643T>A (p.Met548Lys)	SNV	Pathogenic	139618	rs587777509	GRCh37: 2:25467433-25467433 GRCh38: 2:25244564-25244564
5	DNMT3A	NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser)	SNV	Pathogenic	139619	rs587777510	GRCh37: 2:25457182-25457182 GRCh38: 2:25234313-25234313
6	DNMT3A	NM_022552.5(DNMT3A):c.735del (p.Ala246fs)	Deletion	Pathogenic	475178	rs1553414406	GRCh37: 2:25471026-25471026 GRCh38: 2:25248157-25248157
7	DNMT3A	NM_022552.5(DNMT3A):c.958C>T (p.Arg320Ter)	SNV	Pathogenic	955045		GRCh37: 2:25470516-25470516 GRCh38: 2:25247647-25247647
8	DNMT3A	NM_022552.5(DNMT3A):c.1363A>T (p.Lys455Ter)	SNV	Pathogenic	970008		GRCh37: 2:25469095-25469095 GRCh38: 2:25246226-25246226
9	DNMT3A	NM_022552.5(DNMT3A):c.1510del (p.Leu504fs)	Deletion	Pathogenic	541936	rs1553412880	GRCh37: 2:25468166-25468166 GRCh38: 2:25245297-25245297
10	DNMT3A	NM_022552.5(DNMT3A):c.1060_1069del (p.Phe354fs)	Deletion	Pathogenic	569775	rs1558671136	GRCh37: 2:25469973-25469982 GRCh38: 2:25247104-25247113
11	DNMT3A	NM_022552.5(DNMT3A):c.1243del (p.Gln415fs)	Deletion	Pathogenic	574227	rs1558669964	GRCh37: 2:25469525-25469525 GRCh38: 2:25246656-25246656
12	DNMT3A	NM_022552.5(DNMT3A):c.2385G>A (p.Trp795Ter)	SNV	Pathogenic	656461	rs1395575712	GRCh37: 2:25462022-25462022 GRCh38: 2:25239153-25239153
13	DNMT3A	NM_022552.5(DNMT3A):c.1937-2A>G	SNV	Pathogenic	979198		GRCh37: 2:25464578-25464578 GRCh38: 2:25241709-25241709
14	DNMT3A	NM_153759.3(DNMT3A):c.1300del (p.Tyr434fs)	Deletion	Pathogenic	631520	rs1553412022	GRCh37: 2:25466836-25466836 GRCh38: 2:25243967-25243967
15	DNMT3A	NM_022552.5(DNMT3A):c.1628dup (p.Arg544fs)	Duplication	Pathogenic	559440	rs1164367418	GRCh37: 2:25467447-25467448 GRCh38: 2:25244578-25244579
16	overlap with 2 genes	NC_000002.12:g.(?_25234259)_(25345952_?)del	Deletion	Pathogenic	584232		GRCh37: 2:25457128-25568821 GRCh38: 2:25234259-25345952
17	DNMT3A	NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter)	SNV	Pathogenic	419534	rs779626155	GRCh37: 2:25463182-25463182 GRCh38: 2:25240313-25240313
18	EIF3F	NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	SNV	Pathogenic	617475	rs141976414	GRCh37: 11:8016013-8016013 GRCh38: 11:7994466-7994466
19	DNMT3A	NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)	SNV	Pathogenic	375882	rs377577594	GRCh37: 2:25457243-25457243 GRCh38: 2:25234374-25234374
20	DNMT3A	NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys)	SNV	Likely pathogenic	546858	rs367909007	GRCh37: 2:25463541-25463541 GRCh38: 2:25240672-25240672
21	DPP6	NM_130797.4(DPP6):c.914G>A (p.Trp305Ter)	SNV	Likely pathogenic	982749		GRCh37: 7:154561157-154561157 GRCh38: 7:154769447-154769447
22	DNMT3A	NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln)	SNV	Likely pathogenic	438287	rs757823678	GRCh37: 2:25463181-25463181 GRCh38: 2:25240312-25240312
23	DNMT3A	NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)	SNV	Likely pathogenic	620042	rs771174392	GRCh37: 2:25458648-25458648 GRCh38: 2:25235779-25235779
24	DNMT3A	NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu)	SNV	Likely pathogenic	620043	rs759380437	GRCh37: 2:25470554-25470554 GRCh38: 2:25247685-25247685
25	DNMT3A	NM_022552.5(DNMT3A):c.2495C>T (p.Thr832Ile)	SNV	Likely pathogenic	648721	rs1573297136	GRCh37: 2:25458678-25458678 GRCh38: 2:25235809-25235809
26	DNMT3A	NM_022552.5(DNMT3A):c.2086C>T (p.Gln696Ter)	SNV	Likely pathogenic	559654	rs750325978	GRCh37: 2:25463596-25463596 GRCh38: 2:25240727-25240727
27	DNMT3A	NM_022552.5(DNMT3A):c.1634A>G (p.Glu545Gly)	SNV	Likely pathogenic	559889	rs1553412485	GRCh37: 2:25467442-25467442 GRCh38: 2:25244573-25244573
28	DNMT3A	NM_022552.5(DNMT3A):c.2540_2541del (p.His847fs)	Deletion	Likely pathogenic	577390	rs1558653090	GRCh37: 2:25458632-25458633 GRCh38: 2:25235763-25235764
29	DNMT3A	NM_022552.5(DNMT3A):c.895A>C (p.Lys299Gln)	SNV	Likely pathogenic	266030	rs766858016	GRCh37: 2:25470579-25470579 GRCh38: 2:25247710-25247710
30	DNMT3A	NM_175629.2(DNMT3A):c.639+6G>C	SNV	Uncertain significance	662257	rs559534512	GRCh37: 2:25497804-25497804 GRCh38: 2:25274935-25274935
31	DNMT3A	NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln)	SNV	Uncertain significance	828144	rs1573454800	GRCh37: 2:25523048-25523048 GRCh38: 2:25300179-25300179
32	DNMT3A	NM_022552.5(DNMT3A):c.446C>T (p.Ala149Val)	SNV	Uncertain significance	951362		GRCh37: 2:25505312-25505312 GRCh38: 2:25282443-25282443
33	DNMT3A	NM_022552.5(DNMT3A):c.447G>A (p.Ala149=)	SNV	Uncertain significance	475177	rs763553315	GRCh37: 2:25505311-25505311 GRCh38: 2:25282442-25282442
34	DNMT3A	NM_022552.5(DNMT3A):c.855G>A (p.Glu285=)	SNV	Uncertain significance	639320	rs1573342453	GRCh37: 2:25470906-25470906 GRCh38: 2:25248037-25248037
35	DNMT3A	NM_022552.5(DNMT3A):c.2309C>T (p.Ser770Leu)	SNV	Uncertain significance	644499	rs758845779	GRCh37: 2:25463184-25463184 GRCh38: 2:25240315-25240315
36	DNMT3A	NM_022552.5(DNMT3A):c.1490G>C (p.Cys497Ser)	SNV	Uncertain significance	659100	rs779323387	GRCh37: 2:25468186-25468186 GRCh38: 2:25245317-25245317
37	DNMT3A	NM_022552.5(DNMT3A):c.1122+3G>A	SNV	Uncertain significance	836804		GRCh37: 2:25469917-25469917 GRCh38: 2:25247048-25247048
38	DNMT3A	NM_022552.5(DNMT3A):c.736G>A (p.Ala246Thr)	SNV	Uncertain significance	841582		GRCh37: 2:25471025-25471025 GRCh38: 2:25248156-25248156
39	DNMT3A	NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)	SNV	Uncertain significance	284904	rs144689354	GRCh37: 2:25466800-25466800 GRCh38: 2:25243931-25243931
40	DNMT3A	NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys)	SNV	Uncertain significance	392082	rs769419803	GRCh37: 2:25467132-25467132 GRCh38: 2:25244263-25244263
41	DNMT3A	NM_022552.5(DNMT3A):c.2026C>T (p.Arg676Trp)	SNV	Uncertain significance	998917		GRCh37: 2:25464487-25464487 GRCh38: 2:25241618-25241618
42	DNMT3A	NM_022552.5(DNMT3A):c.700G>A (p.Gly234Arg)	SNV	Uncertain significance	840528		GRCh37: 2:25471061-25471061 GRCh38: 2:25248192-25248192
43	DNMT3A	NM_022552.5(DNMT3A):c.1706C>T (p.Pro569Leu)	SNV	Uncertain significance	855198		GRCh37: 2:25467169-25467169 GRCh38: 2:25244300-25244300
44	DNMT3A	NM_022552.5(DNMT3A):c.240G>A (p.Gln80=)	SNV	Uncertain significance	864277		GRCh37: 2:25505518-25505518 GRCh38: 2:25282649-25282649
45	DNMT3A	NM_022552.5(DNMT3A):c.2063G>A (p.Arg688His)	SNV	Uncertain significance	650730	rs369713081	GRCh37: 2:25464450-25464450 GRCh38: 2:25241581-25241581
46	DNMT3A	NM_022552.5(DNMT3A):c.230C>T (p.Ser77Phe)	SNV	Uncertain significance	1029293		GRCh37: 2:25505528-25505528 GRCh38: 2:25282659-25282659
47	DNMT3A	NM_022552.5(DNMT3A):c.386C>T (p.Ser129Leu)	SNV	Uncertain significance	1042707		GRCh37: 2:25505372-25505372 GRCh38: 2:25282503-25282503
48	DNMT3A	NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)	SNV	Uncertain significance	375881	rs147001633	GRCh37: 2:25457242-25457242 GRCh38: 2:25234373-25234373
49	DNMT3A	NM_022552.5(DNMT3A):c.1684T>C (p.Cys562Arg)	SNV	Uncertain significance	379924	rs1057520788	GRCh37: 2:25467191-25467191 GRCh38: 2:25244322-25244322
50	DNMT3A	NC_000002.12:g.(?_25300139)_(25300243_?)del	Deletion	Uncertain significance	643714		GRCh37: 2:25523008-25523112 GRCh38: 2:25300139-25300243

UniProtKB/Swiss-Prot genetic disease variations for Tatton-Brown-Rahman Syndrome:

⁷² (show all 12)

#	Symbol	AA change	Variation ID	SNP ID
1	DNMT3A	p.Arg882Cys	VAR_067236	rs377577594
2	DNMT3A	p.Arg882His	VAR_067237	rs147001633
3	DNMT3A	p.Ile310Asn	VAR_071463	rs587777508
4	DNMT3A	p.Gly532Ser	VAR_071464	rs951361433
5	DNMT3A	p.Met548Lys	VAR_071465	rs587777509
6	DNMT3A	p.Cys549Arg	VAR_071466
7	DNMT3A	p.Leu648Pro	VAR_071467	rs587777507
8	DNMT3A	p.Pro700Leu	VAR_071468	rs772368909
9	DNMT3A	p.Arg749Cys	VAR_071469	rs754613602
10	DNMT3A	p.Asn838Asp	VAR_071470	rs961377711
11	DNMT3A	p.Phe902Ser	VAR_071471	rs587777510
12	DNMT3A	p.Pro904Leu	VAR_071472	rs149095705

Sources

Expression for Tatton-Brown-Rahman Syndrome

Search GEO for disease gene expression data for Tatton-Brown-Rahman Syndrome.

Sources

Pathways for Tatton-Brown-Rahman Syndrome

Pathways related to Tatton-Brown-Rahman Syndrome according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Cysteine and methionine metabolism	hsa00270

Sources

GO Terms for Tatton-Brown-Rahman Syndrome

Biological processes related to Tatton-Brown-Rahman Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	8.62	EIF3F DPP6

Sources

Sources for Tatton-Brown-Rahman Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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¹⁰ dbSNP

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¹² Disease Ontology

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²⁰ GARD

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Tatton-Brown-Rahman Syndrome (TBRS)

Aliases & Classifications for Tatton-Brown-Rahman Syndrome

MalaCards integrated aliases for Tatton-Brown-Rahman Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Tatton-Brown-Rahman Syndrome

Related Diseases for Tatton-Brown-Rahman Syndrome

Diseases related to Tatton-Brown-Rahman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Tatton-Brown-Rahman Syndrome:

Symptoms & Phenotypes for Tatton-Brown-Rahman Syndrome

Human phenotypes related to Tatton-Brown-Rahman Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Tatton-Brown-Rahman Syndrome

Drugs for Tatton-Brown-Rahman Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Tatton-Brown-Rahman Syndrome

Genetic tests related to Tatton-Brown-Rahman Syndrome:

Anatomical Context for Tatton-Brown-Rahman Syndrome

MalaCards organs/tissues related to Tatton-Brown-Rahman Syndrome:

Publications for Tatton-Brown-Rahman Syndrome

Articles related to Tatton-Brown-Rahman Syndrome:

Genes for Tatton-Brown-Rahman Syndrome

Genes related to Tatton-Brown-Rahman Syndrome (2 elite genes):

Variations for Tatton-Brown-Rahman Syndrome

ClinVar genetic disease variations for Tatton-Brown-Rahman Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Tatton-Brown-Rahman Syndrome:

Expression for Tatton-Brown-Rahman Syndrome

Pathways for Tatton-Brown-Rahman Syndrome

Pathways related to Tatton-Brown-Rahman Syndrome according to KEGG:

GO Terms for Tatton-Brown-Rahman Syndrome

Biological processes related to Tatton-Brown-Rahman Syndrome according to GeneCards Suite gene sharing:

Sources for Tatton-Brown-Rahman Syndrome