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 53 71 28 69
Tbrs 53 71
Tall Stature-Intellectual Disability-Facial Dysmorphism Syndrome 55
Tatton-Brown-Rahman Overgrowth Syndrome 55
Dnmt3a-Related Overgrowth Syndrome 55
Dnmt3a Overgrowth Syndrome 71

Characteristics:

Orphanet epidemiological data:

55
tall stature-intellectual disability-facial dysmorphism syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
tatton-brown-rahman syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Tatton-Brown-Rahman Syndrome

UniProtKB/Swiss-Prot : 71 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, and has symptoms including seizures, macrocephaly and intellectual disability. An important gene associated with Tatton-Brown-Rahman Syndrome is DNMT3A (DNA Methyltransferase 3 Alpha). Affiliated tissues include myeloid.

OMIM : 53 Tatton-Brown-Rahman syndrome is a disorder 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 10.6
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:

53
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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 macrocephaly 31 HP:0000256
3 intellectual disability 31 HP:0001249
4 scoliosis 31 occasional (7.5%) HP:0002650
5 umbilical hernia 31 occasional (7.5%) HP:0001537
6 atrial septal defect 31 occasional (7.5%) HP:0001631
7 round face 31 HP:0000311
8 blepharophimosis 31 HP:0000581
9 tall stature 31 HP:0000098

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 28 DNMT3A

Anatomical Context for Tatton-Brown-Rahman Syndrome

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

38
Myeloid

Publications for Tatton-Brown-Rahman Syndrome

Articles related to Tatton-Brown-Rahman Syndrome:

# Title Authors Year
1
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. ( 28941052 )
2017
2
Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. ( 28432085 )
2017
3
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. ( 26866722 )
2016
4
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. ( 27701732 )
2016

Variations for Tatton-Brown-Rahman Syndrome

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

71
# 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
# 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.1943T> C (p.Leu648Pro) single nucleotide variant Pathogenic rs587777507 GRCh37 Chromosome 2, 25464570: 25464570
3 DNMT3A NM_022552.4(DNMT3A): c.929T> A (p.Ile310Asn) single nucleotide variant Pathogenic rs587777508 GRCh37 Chromosome 2, 25470545: 25470545
4 DNMT3A NM_022552.4(DNMT3A): c.1643T> A (p.Met548Lys) single nucleotide variant Pathogenic rs587777509 GRCh37 Chromosome 2, 25467433: 25467433
5 DNMT3A NM_022552.4(DNMT3A): c.2705T> C (p.Phe902Ser) single nucleotide variant Pathogenic rs587777510 GRCh37 Chromosome 2, 25457182: 25457182
6 DNMT3A NM_022552.4(DNMT3A): c.895A> C (p.Lys299Gln) single nucleotide variant Likely pathogenic rs766858016 GRCh37 Chromosome 2, 25470579: 25470579
7 DNMT3A NM_175629.2(DNMT3A): c.1903C> T (p.Arg635Trp) single nucleotide variant Likely pathogenic rs144689354 GRCh37 Chromosome 2, 25466800: 25466800
8 DNMT3A NM_175629.2(DNMT3A): c.2312G> A (p.Arg771Gln) single nucleotide variant Likely pathogenic rs757823678 GRCh38 Chromosome 2, 25240312: 25240312
9 DNMT3A NM_175629.2(DNMT3A): c.735delT (p.Ala246Leufs) deletion Pathogenic GRCh38 Chromosome 2, 25248157: 25248157

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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