TBRS
MCID: TTT001
MIFTS: 29

Tatton-Brown-Rahman Syndrome (TBRS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

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:



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)

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 Top Affiliating Genes
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:



Diseases related to Tatton-Brown-Rahman Syndrome

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

Drugs & Therapeutics for Tatton-Brown-Rahman Syndrome

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

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

Anatomical Context for Tatton-Brown-Rahman Syndrome

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

42
Myeloid, Eye

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 )
2019
2
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. ( 29900417 )
2018
3
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. ( 27701732 )
2017
4
Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. ( 28432085 )
2017
5
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. ( 28941052 )
2017
6
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. ( 26866722 )
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 )
2014
8
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. ( 24614070 )
2014
9
On the proper reading of the TBRS model: reply to Oberauer and Lewandowsky (2014). ( 25484871 )
2014
10
DNMT3A mutations in acute myeloid leukemia. ( 21067377 )
2010
11
Studies on lipid peroxidation in pancreatic tissue. In vitro formation of thiobarbituric-acid-reactive substances (TBRS). ( 1915759 )
1991

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

Expression for Tatton-Brown-Rahman Syndrome

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

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

GO Terms for Tatton-Brown-Rahman Syndrome

Sources for Tatton-Brown-Rahman Syndrome

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75 UMLS via Orphanet
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