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

TBRS MCID: TTT001 MIFTS: 29	Tatton-Brown-Rahman Syndrome (TBRS) Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes 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 ⁵⁸ ⁷⁶ ³⁸ ³⁰ ⁶ ⁴¹ ⁷⁴

Tbrs ⁵⁸ ⁷⁶

Tall Stature-Intellectual Disability-Facial Dysmorphism Syndrome ⁶⁰

Tatton-Brown-Rahman Overgrowth Syndrome ⁶⁰

Dnmt3a-Related Overgrowth Syndrome ⁶⁰

Dnmt3a Overgrowth Syndrome ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

tall stature-intellectual disability-facial dysmorphism syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation

HPO:

³³

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: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes involving early overgrowth

Orphanet: ⁶⁰

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 615879

KEGG ³⁸ H02294

MeSH ⁴⁵ D006130 D008607

ICD10 via Orphanet ³⁵ Q87.3

Orphanet ⁶⁰ ORPHA404443

MedGen ⁴³ C4014545 CN189716

UMLS ⁷⁴ C4014545

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Summaries for Tatton-Brown-Rahman Syndrome

UniProtKB/Swiss-Prot : ⁷⁶ 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.

MalaCards based summary : Tatton-Brown-Rahman Syndrome, also known as tbrs, is related to dnmt3a overgrowth syndrome and sleeping sickness. 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. Affiliated tissues include myeloid and eye, and related phenotypes are seizures and scoliosis

OMIM : ⁵⁸ Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014). (615879)

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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:

#	Related Disease	Score
1	dnmt3a overgrowth syndrome	12.2
2	sleeping sickness	11.2
3	rahman syndrome	10.9
4	leukemia	10.5
5	myeloid leukemia	10.5
6	medulloblastoma	10.5
7	leukemia, acute myeloid	10.5
8	graves disease 1	10.1
9	bornholm eye disease	10.1

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

Sources

Symptoms & Phenotypes for Tatton-Brown-Rahman Syndrome

Human phenotypes related to Tatton-Brown-Rahman Syndrome:

³³ (show all 14)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³³	occasional (7.5%)	HP:0001250
2	scoliosis ³³	occasional (7.5%)	HP:0002650
3	umbilical hernia ³³	occasional (7.5%)	HP:0001537
4	atrial septal defect ³³	occasional (7.5%)	HP:0001631
5	macrocephaly ³³		HP:0000256
6	intellectual disability ³³		HP:0001249
7	optic nerve hypoplasia ³³		HP:0000609
8	round face ³³		HP:0000311
9	blepharophimosis ³³		HP:0000581
10	tall stature ³³		HP:0000098
11	generalized hypotonia ³³		HP:0001290
12	narrow palpebral fissure ³³		HP:0045025
13	arnold-chiari type i malformation ³³		HP:0007099
14	encephalomalacia ³³		HP:0040197

Symptoms via clinical synopsis from OMIM:

⁵⁸

Abdomen External Features:
umbilical hernia

Head And Neck Face:
round face

Skeletal:
hypermobile joints

Cardiovascular Heart:
atrial septal defect (less common)

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

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

Head And Neck Eyes:
narrow palpebral fissures
heavy horizontal eyebrows

Skeletal Spine:
scoliosis (less common)

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

Clinical features from OMIM:

615879

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Drugs & Therapeutics for Tatton-Brown-Rahman Syndrome

Search Clinical Trials , NIH Clinical Center for Tatton-Brown-Rahman Syndrome

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Genetic Tests for Tatton-Brown-Rahman Syndrome

Genetic tests related to Tatton-Brown-Rahman Syndrome:

#	Genetic test	Affiliating Genes
1	Tatton-Brown-Rahman Syndrome ³⁰	DNMT3A

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Anatomical Context for Tatton-Brown-Rahman Syndrome

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

⁴²

Myeloid, Eye

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Publications for Tatton-Brown-Rahman Syndrome

Articles related to Tatton-Brown-Rahman Syndrome:

(show all 11)

#	Title	Authors	Year
1	The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome. ( 31066180 )	Sweeney KJ...Di Rocco F	2019
2	The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. ( 29900417 )	Tatton-Brown K...Rahman N	2018
3	Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. ( 27701732 )	Xin B...Wang H	2017
4	Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. ( 28432085 )	Hollink IHIM...Wagner A	2017
5	The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. ( 28941052 )	Shen W...Carey JC	2017
6	Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. ( 26866722 )	Okamoto N...Yamamoto T	2016
7	X-ray digital industrial radiography (DIR) for local liquid velocity (V(LL)) measurement in trickle bed reactors (TBRs): validation of the technique. ( 24985858 )	Mohd Salleh KA...Al Dahhan MH	2014
8	Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. ( 24614070 )	Tatton-Brown K...Rahman N	2014
9	On the proper reading of the TBRS model: reply to Oberauer and Lewandowsky (2014). ( 25484871 )	Barrouillet P...Camos V	2014
10	DNMT3A mutations in acute myeloid leukemia. ( 21067377 )	Ley TJ...Wilson RK	2010
11	Studies on lipid peroxidation in pancreatic tissue. In vitro formation of thiobarbituric-acid-reactive substances (TBRS). ( 1915759 )	Letko G...Heinrich P	1991

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Genes for Tatton-Brown-Rahman Syndrome

Genes related to Tatton-Brown-Rahman Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DNMT3A	DNA Methyltransferase 3 Alpha	Protein Coding	1690.78	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Publications Variants (show sections)	24614070 28941052 21067377

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Variations for Tatton-Brown-Rahman Syndrome

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

⁷⁶

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

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

⁶ (show top 50) (show all 70)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DNMT3A	NM_175629.2(DNMT3A): c.89A> C (p.Glu30Ala)	single nucleotide variant	Benign/Likely benign	rs143730975	GRCh37	Chromosome 2, 25523096: 25523096
2	DNMT3A	NM_175629.2(DNMT3A): c.89A> C (p.Glu30Ala)	single nucleotide variant	Benign/Likely benign	rs143730975	GRCh38	Chromosome 2, 25300227: 25300227
3	DNMT3A	NM_175629.2(DNMT3A): c.131C> T (p.Thr44Met)	single nucleotide variant	Uncertain significance	rs199643287	GRCh37	Chromosome 2, 25523054: 25523054
4	DNMT3A	NM_175629.2(DNMT3A): c.131C> T (p.Thr44Met)	single nucleotide variant	Uncertain significance	rs199643287	GRCh38	Chromosome 2, 25300185: 25300185
5	DNMT3A	NM_175629.2(DNMT3A): c.1502A> G (p.Asn501Ser)	single nucleotide variant	Uncertain significance	rs149738328	GRCh37	Chromosome 2, 25468174: 25468174
6	DNMT3A	NM_175629.2(DNMT3A): c.1502A> G (p.Asn501Ser)	single nucleotide variant	Uncertain significance	rs149738328	GRCh38	Chromosome 2, 25245305: 25245305
7	DNMT3A	NM_022552.4(DNMT3A): c.889_891delTGG (p.Trp297del)	deletion	Pathogenic	rs587777506	GRCh37	Chromosome 2, 25470583: 25470585
8	DNMT3A	NM_022552.4(DNMT3A): c.889_891delTGG (p.Trp297del)	deletion	Pathogenic	rs587777506	GRCh38	Chromosome 2, 25247714: 25247716
9	DNMT3A	NM_022552.4(DNMT3A): c.1943T> C (p.Leu648Pro)	single nucleotide variant	Pathogenic	rs587777507	GRCh37	Chromosome 2, 25464570: 25464570
10	DNMT3A	NM_022552.4(DNMT3A): c.1943T> C (p.Leu648Pro)	single nucleotide variant	Pathogenic	rs587777507	GRCh38	Chromosome 2, 25241701: 25241701
11	DNMT3A	NM_022552.4(DNMT3A): c.929T> A (p.Ile310Asn)	single nucleotide variant	Pathogenic	rs587777508	GRCh37	Chromosome 2, 25470545: 25470545
12	DNMT3A	NM_022552.4(DNMT3A): c.929T> A (p.Ile310Asn)	single nucleotide variant	Pathogenic	rs587777508	GRCh38	Chromosome 2, 25247676: 25247676
13	DNMT3A	NM_022552.4(DNMT3A): c.1643T> A (p.Met548Lys)	single nucleotide variant	Pathogenic	rs587777509	GRCh37	Chromosome 2, 25467433: 25467433
14	DNMT3A	NM_022552.4(DNMT3A): c.1643T> A (p.Met548Lys)	single nucleotide variant	Pathogenic	rs587777509	GRCh38	Chromosome 2, 25244564: 25244564
15	DNMT3A	NM_022552.4(DNMT3A): c.2705T> C (p.Phe902Ser)	single nucleotide variant	Pathogenic	rs587777510	GRCh37	Chromosome 2, 25457182: 25457182
16	DNMT3A	NM_022552.4(DNMT3A): c.2705T> C (p.Phe902Ser)	single nucleotide variant	Pathogenic	rs587777510	GRCh38	Chromosome 2, 25234313: 25234313
17	DNMT3A	NM_022552.4(DNMT3A): c.895A> C (p.Lys299Gln)	single nucleotide variant	Likely pathogenic	rs766858016	GRCh37	Chromosome 2, 25470579: 25470579
18	DNMT3A	NM_022552.4(DNMT3A): c.895A> C (p.Lys299Gln)	single nucleotide variant	Likely pathogenic	rs766858016	GRCh38	Chromosome 2, 25247710: 25247710
19	DNMT3A	NM_175629.2(DNMT3A): c.1903C> T (p.Arg635Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144689354	GRCh37	Chromosome 2, 25466800: 25466800
20	DNMT3A	NM_175629.2(DNMT3A): c.1903C> T (p.Arg635Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144689354	GRCh38	Chromosome 2, 25243931: 25243931
21	DNMT3A	NM_175629.2(DNMT3A): c.2645G> A (p.Arg882His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147001633	GRCh37	Chromosome 2, 25457242: 25457242
22	DNMT3A	NM_175629.2(DNMT3A): c.2645G> A (p.Arg882His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147001633	GRCh38	Chromosome 2, 25234373: 25234373
23	DNMT3A	NM_153759.3(DNMT3A): c.2077C> T (p.Arg693Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs377577594	GRCh37	Chromosome 2, 25457243: 25457243
24	DNMT3A	NM_153759.3(DNMT3A): c.2077C> T (p.Arg693Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs377577594	GRCh38	Chromosome 2, 25234374: 25234374
25	DNMT3A	NM_175629.2(DNMT3A): c.1684T> C (p.Cys562Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1057520788	GRCh37	Chromosome 2, 25467191: 25467191
26	DNMT3A	NM_175629.2(DNMT3A): c.1684T> C (p.Cys562Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1057520788	GRCh38	Chromosome 2, 25244322: 25244322
27	DNMT3A	NM_175629.2(DNMT3A): c.1743G> T (p.Trp581Cys)	single nucleotide variant	Uncertain significance	rs769419803	GRCh37	Chromosome 2, 25467132: 25467132
28	DNMT3A	NM_175629.2(DNMT3A): c.1743G> T (p.Trp581Cys)	single nucleotide variant	Uncertain significance	rs769419803	GRCh38	Chromosome 2, 25244263: 25244263
29	DNMT3A	NM_175629.2(DNMT3A): c.759C> T (p.Pro253=)	single nucleotide variant	Benign	rs77558739	GRCh37	Chromosome 2, 25471002: 25471002
30	DNMT3A	NM_175629.2(DNMT3A): c.759C> T (p.Pro253=)	single nucleotide variant	Benign	rs77558739	GRCh38	Chromosome 2, 25248133: 25248133
31	DNMT3A	NM_175629.2(DNMT3A): c.2312G> A (p.Arg771Gln)	single nucleotide variant	Pathogenic	rs757823678	GRCh38	Chromosome 2, 25240312: 25240312
32	DNMT3A	NM_175629.2(DNMT3A): c.2312G> A (p.Arg771Gln)	single nucleotide variant	Pathogenic	rs757823678	GRCh37	Chromosome 2, 25463181: 25463181
33	DNMT3A	NM_175629.2(DNMT3A): c.2151C> T (p.Asn717=)	single nucleotide variant	Benign	rs141216815	GRCh37	Chromosome 2, 25463531: 25463531
34	DNMT3A	NM_175629.2(DNMT3A): c.2151C> T (p.Asn717=)	single nucleotide variant	Benign	rs141216815	GRCh38	Chromosome 2, 25240662: 25240662
35	DNMT3A	NM_175629.2(DNMT3A): c.735delT (p.Ala246Leufs)	deletion	Pathogenic	rs1553414406	GRCh38	Chromosome 2, 25248157: 25248157
36	DNMT3A	NM_175629.2(DNMT3A): c.735delT (p.Ala246Leufs)	deletion	Pathogenic	rs1553414406	GRCh37	Chromosome 2, 25471026: 25471026
37	DNMT3A	NM_175629.2(DNMT3A): c.447G> A (p.Ala149=)	single nucleotide variant	Uncertain significance	rs763553315	GRCh37	Chromosome 2, 25505311: 25505311
38	DNMT3A	NM_175629.2(DNMT3A): c.447G> A (p.Ala149=)	single nucleotide variant	Uncertain significance	rs763553315	GRCh38	Chromosome 2, 25282442: 25282442
39	DNMT3A	NM_175629.2(DNMT3A): c.1140G> A (p.Ala380=)	single nucleotide variant	Benign	rs77345627	GRCh37	Chromosome 2, 25469628: 25469628
40	DNMT3A	NM_175629.2(DNMT3A): c.1140G> A (p.Ala380=)	single nucleotide variant	Benign	rs77345627	GRCh38	Chromosome 2, 25246759: 25246759
41	DNMT3A	NM_175629.2(DNMT3A): c.2676A> G (p.Ser892=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs763189481	GRCh37	Chromosome 2, 25457211: 25457211
42	DNMT3A	NM_175629.2(DNMT3A): c.2676A> G (p.Ser892=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs763189481	GRCh38	Chromosome 2, 25234342: 25234342
43	DNMT3A	NM_175629.2(DNMT3A): c.2688A> G (p.Pro896=)	single nucleotide variant	Benign	rs181757577	GRCh37	Chromosome 2, 25457199: 25457199
44	DNMT3A	NM_175629.2(DNMT3A): c.2688A> G (p.Pro896=)	single nucleotide variant	Benign	rs181757577	GRCh38	Chromosome 2, 25234330: 25234330
45	DNMT3A	NM_175629.2(DNMT3A): c.1510delC (p.Leu504Trpfs)	deletion	Pathogenic	rs1553412880	GRCh37	Chromosome 2, 25468166: 25468166
46	DNMT3A	NM_175629.2(DNMT3A): c.1510delC (p.Leu504Trpfs)	deletion	Pathogenic	rs1553412880	GRCh38	Chromosome 2, 25245297: 25245297
47	DNMT3A	NM_175629.2(DNMT3A): c.72+10G> A	single nucleotide variant	Benign	rs370534287	GRCh37	Chromosome 2, 25536772: 25536772
48	DNMT3A	NM_175629.2(DNMT3A): c.72+10G> A	single nucleotide variant	Benign	rs370534287	GRCh38	Chromosome 2, 25313903: 25313903
49	DNMT3A	NM_175629.2(DNMT3A): c.801C> T (p.Ser267=)	single nucleotide variant	Benign	rs116609083	GRCh37	Chromosome 2, 25470960: 25470960
50	DNMT3A	NM_175629.2(DNMT3A): c.801C> T (p.Ser267=)	single nucleotide variant	Benign	rs116609083	GRCh38	Chromosome 2, 25248091: 25248091

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Expression for Tatton-Brown-Rahman Syndrome

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

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Pathways for Tatton-Brown-Rahman Syndrome

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

³⁸

#	Name	Kegg Source Accession
1	Cysteine and methionine metabolism	hsa00270

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GO Terms for Tatton-Brown-Rahman Syndrome

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Sources for Tatton-Brown-Rahman Syndrome

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⁷⁷ 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

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 (1 elite genes):

Variations for Tatton-Brown-Rahman Syndrome

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

ClinVar 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

Sources for Tatton-Brown-Rahman Syndrome