MCID: TTT001
MIFTS: 27

Tatton-Brown-Rahman Syndrome

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

Aliases & Classifications for Tatton-Brown-Rahman Syndrome

MalaCards integrated aliases for Tatton-Brown-Rahman Syndrome:

Name: Tatton-Brown-Rahman Syndrome 57 75 29 6 40 73
Tbrs 57 75
Tall Stature-Intellectual Disability-Facial Dysmorphism Syndrome 59
Tatton-Brown-Rahman Overgrowth Syndrome 59
Dnmt3a-Related Overgrowth Syndrome 59
Dnmt3a Overgrowth Syndrome 75

Characteristics:

Orphanet epidemiological data:

59
tall stature-intellectual disability-facial dysmorphism syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
all reported cases result from de novo mutation (last curated july 2014)


HPO:

32
tatton-brown-rahman syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Tatton-Brown-Rahman Syndrome

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include myeloid, and related phenotypes are tall stature and macrocephaly

OMIM : 57 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 12.0
2 sleeping sickness 11.0
3 rahman syndrome 10.7
4 leukemia, acute myeloid 10.4
5 leukemia 10.4
6 myeloid leukemia 10.4

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

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
tall stature (+3 s.d)

Head And Neck Face:
round face

Cardiovascular Heart:
atrial septal defect (less common)

Skeletal Spine:
scoliosis (less common)

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

Head And Neck Eyes:
heavy horizontal eyebrows
narrow palpebral fissures

Abdomen External Features:
umbilical hernia (less common)

Neurologic Central Nervous System:
intellectual disability, mild to moderate
seizures (less common)


Clinical features from OMIM:

615879

Human phenotypes related to Tatton-Brown-Rahman Syndrome:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 tall stature 32 HP:0000098
2 macrocephaly 32 HP:0000256
3 round face 32 HP:0000311
4 blepharophimosis 32 HP:0000581
5 intellectual disability 32 HP:0001249
6 seizures 32 occasional (7.5%) HP:0001250
7 umbilical hernia 32 occasional (7.5%) HP:0001537
8 atrial septal defect 32 occasional (7.5%) HP:0001631
9 scoliosis 32 occasional (7.5%) HP:0002650

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 29 DNMT3A

Anatomical Context for Tatton-Brown-Rahman Syndrome

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

41
Myeloid

Publications for Tatton-Brown-Rahman Syndrome

Articles related to Tatton-Brown-Rahman Syndrome:

# Title Authors Year
1
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants. ( 29900417 )
2018
2
Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. ( 28432085 )
2017
3
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. ( 28941052 )
2017
4
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. ( 27701732 )
2016
5
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. ( 26866722 )
2016

Variations for Tatton-Brown-Rahman Syndrome

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

75
# 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 all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNMT3A NM_022552.4(DNMT3A): c.889_891delTGG (p.Trp297del) deletion Pathogenic rs587777506 GRCh37 Chromosome 2, 25470583: 25470585
2 DNMT3A NM_022552.4(DNMT3A): c.889_891delTGG (p.Trp297del) deletion Pathogenic rs587777506 GRCh38 Chromosome 2, 25247714: 25247716
3 DNMT3A NM_022552.4(DNMT3A): c.1943T> C (p.Leu648Pro) single nucleotide variant Pathogenic rs587777507 GRCh37 Chromosome 2, 25464570: 25464570
4 DNMT3A NM_022552.4(DNMT3A): c.1943T> C (p.Leu648Pro) single nucleotide variant Pathogenic rs587777507 GRCh38 Chromosome 2, 25241701: 25241701
5 DNMT3A NM_022552.4(DNMT3A): c.929T> A (p.Ile310Asn) single nucleotide variant Pathogenic rs587777508 GRCh37 Chromosome 2, 25470545: 25470545
6 DNMT3A NM_022552.4(DNMT3A): c.929T> A (p.Ile310Asn) single nucleotide variant Pathogenic rs587777508 GRCh38 Chromosome 2, 25247676: 25247676
7 DNMT3A NM_022552.4(DNMT3A): c.1643T> A (p.Met548Lys) single nucleotide variant Pathogenic rs587777509 GRCh37 Chromosome 2, 25467433: 25467433
8 DNMT3A NM_022552.4(DNMT3A): c.1643T> A (p.Met548Lys) single nucleotide variant Pathogenic rs587777509 GRCh38 Chromosome 2, 25244564: 25244564
9 DNMT3A NM_022552.4(DNMT3A): c.2705T> C (p.Phe902Ser) single nucleotide variant Pathogenic rs587777510 GRCh37 Chromosome 2, 25457182: 25457182
10 DNMT3A NM_022552.4(DNMT3A): c.2705T> C (p.Phe902Ser) single nucleotide variant Pathogenic rs587777510 GRCh38 Chromosome 2, 25234313: 25234313
11 DNMT3A NM_022552.4(DNMT3A): c.895A> C (p.Lys299Gln) single nucleotide variant Likely pathogenic rs766858016 GRCh37 Chromosome 2, 25470579: 25470579
12 DNMT3A NM_022552.4(DNMT3A): c.895A> C (p.Lys299Gln) single nucleotide variant Likely pathogenic rs766858016 GRCh38 Chromosome 2, 25247710: 25247710
13 DNMT3A NM_175629.2(DNMT3A): c.1903C> T (p.Arg635Trp) single nucleotide variant Likely pathogenic rs144689354 GRCh37 Chromosome 2, 25466800: 25466800
14 DNMT3A NM_175629.2(DNMT3A): c.1903C> T (p.Arg635Trp) single nucleotide variant Likely pathogenic rs144689354 GRCh38 Chromosome 2, 25243931: 25243931
15 DNMT3A NM_175629.2(DNMT3A): c.2645G> A (p.Arg882His) single nucleotide variant Conflicting interpretations of pathogenicity rs147001633 GRCh37 Chromosome 2, 25457242: 25457242
16 DNMT3A NM_175629.2(DNMT3A): c.2645G> A (p.Arg882His) single nucleotide variant Conflicting interpretations of pathogenicity rs147001633 GRCh38 Chromosome 2, 25234373: 25234373
17 DNMT3A NM_175629.2(DNMT3A): c.1684T> C (p.Cys562Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1057520788 GRCh37 Chromosome 2, 25467191: 25467191
18 DNMT3A NM_175629.2(DNMT3A): c.1684T> C (p.Cys562Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1057520788 GRCh38 Chromosome 2, 25244322: 25244322
19 DNMT3A NM_175629.2(DNMT3A): c.1743G> T (p.Trp581Cys) single nucleotide variant Uncertain significance rs769419803 GRCh37 Chromosome 2, 25467132: 25467132
20 DNMT3A NM_175629.2(DNMT3A): c.1743G> T (p.Trp581Cys) single nucleotide variant Uncertain significance rs769419803 GRCh38 Chromosome 2, 25244263: 25244263
21 DNMT3A NM_175629.2(DNMT3A): c.759C> T (p.Pro253=) single nucleotide variant Benign rs77558739 GRCh38 Chromosome 2, 25248133: 25248133
22 DNMT3A NM_175629.2(DNMT3A): c.759C> T (p.Pro253=) single nucleotide variant Benign rs77558739 GRCh37 Chromosome 2, 25471002: 25471002
23 DNMT3A NM_175629.2(DNMT3A): c.2312G> A (p.Arg771Gln) single nucleotide variant Pathogenic rs757823678 GRCh38 Chromosome 2, 25240312: 25240312
24 DNMT3A NM_175629.2(DNMT3A): c.2312G> A (p.Arg771Gln) single nucleotide variant Pathogenic rs757823678 GRCh37 Chromosome 2, 25463181: 25463181
25 DNMT3A NM_175629.2(DNMT3A): c.2151C> T (p.Asn717=) single nucleotide variant Benign rs141216815 GRCh38 Chromosome 2, 25240662: 25240662
26 DNMT3A NM_175629.2(DNMT3A): c.2151C> T (p.Asn717=) single nucleotide variant Benign rs141216815 GRCh37 Chromosome 2, 25463531: 25463531
27 DNMT3A NM_175629.2(DNMT3A): c.735delT (p.Ala246Leufs) deletion Pathogenic GRCh38 Chromosome 2, 25248157: 25248157
28 DNMT3A NM_175629.2(DNMT3A): c.735delT (p.Ala246Leufs) deletion Pathogenic GRCh37 Chromosome 2, 25471026: 25471026
29 DNMT3A NM_175629.2(DNMT3A): c.447G> A (p.Ala149=) single nucleotide variant Uncertain significance rs763553315 GRCh37 Chromosome 2, 25505311: 25505311
30 DNMT3A NM_175629.2(DNMT3A): c.447G> A (p.Ala149=) single nucleotide variant Uncertain significance rs763553315 GRCh38 Chromosome 2, 25282442: 25282442
31 DNMT3A NM_175629.2(DNMT3A): c.1140G> A (p.Ala380=) single nucleotide variant Benign rs77345627 GRCh37 Chromosome 2, 25469628: 25469628
32 DNMT3A NM_175629.2(DNMT3A): c.1140G> A (p.Ala380=) single nucleotide variant Benign rs77345627 GRCh38 Chromosome 2, 25246759: 25246759
33 DNMT3A DNMT3A, ARG882HIS undetermined variant Pathogenic
34 DNMT3A DNMT3A, ARG822CYS undetermined variant Pathogenic
35 DNMT3A NM_175629.2(DNMT3A): c.2676A> G (p.Ser892=) single nucleotide variant Conflicting interpretations of pathogenicity rs763189481 GRCh37 Chromosome 2, 25457211: 25457211
36 DNMT3A NM_175629.2(DNMT3A): c.2676A> G (p.Ser892=) single nucleotide variant Conflicting interpretations of pathogenicity rs763189481 GRCh38 Chromosome 2, 25234342: 25234342
37 DNMT3A NM_175629.2(DNMT3A): c.2688A> G (p.Pro896=) single nucleotide variant Benign rs181757577 GRCh38 Chromosome 2, 25234330: 25234330
38 DNMT3A NM_175629.2(DNMT3A): c.2688A> G (p.Pro896=) single nucleotide variant Benign rs181757577 GRCh37 Chromosome 2, 25457199: 25457199
39 DNMT3A NM_175629.2(DNMT3A): c.1510delC (p.Leu504Trpfs) deletion Pathogenic GRCh37 Chromosome 2, 25468166: 25468166
40 DNMT3A NM_175629.2(DNMT3A): c.1510delC (p.Leu504Trpfs) deletion Pathogenic GRCh38 Chromosome 2, 25245297: 25245297
41 DNMT3A NM_175629.2(DNMT3A): c.72+10G> A single nucleotide variant Benign rs370534287 GRCh37 Chromosome 2, 25536772: 25536772
42 DNMT3A NM_175629.2(DNMT3A): c.72+10G> A single nucleotide variant Benign rs370534287 GRCh38 Chromosome 2, 25313903: 25313903
43 DNMT3A NM_175629.2(DNMT3A): c.801C> T (p.Ser267=) single nucleotide variant Benign rs116609083 GRCh37 Chromosome 2, 25470960: 25470960
44 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

GO Terms for Tatton-Brown-Rahman Syndrome

Sources for Tatton-Brown-Rahman Syndrome

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