MCID: TTT001
MIFTS: 25

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 54 24 71 29 69
Tall Stature-Intellectual Disability-Facial Dysmorphism Syndrome 56
Dnmt3a-Related Overgrowth Syndrome 56
Dnmt3a Overgrowth Syndrome 71
Tbrs 71

Characteristics:

Orphanet epidemiological data:

56
tall stature-intellectual disability-facial dysmorphism syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
Miscellaneous:
all reported cases result from de novo mutation (last curated july 2014)

Inheritance:
autosomal dominant


HPO:

32
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 tall stature-intellectual disability-facial dysmorphism syndrome, is related to rahman syndrome, and has symptoms including scoliosis, umbilical hernia and seizures. An important gene associated with Tatton-Brown-Rahman Syndrome is DNMT3A (DNA Methyltransferase 3 Alpha). Affiliated tissues include myeloid.

Genetics Home Reference : 25 DNMT3A overgrowth syndrome is a disorder characterized by faster than normal growth before and after birth, subtle differences in facial features, and intellectual disability.

OMIM : 54
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:

id Related Disease Score Top Affiliating Genes
1 rahman syndrome 10.6

Symptoms & Phenotypes for Tatton-Brown-Rahman Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Abdomen- External Features:
umbilical hernia (less common)

Head And Neck- Eyes:
narrow palpebral fissures
heavy horizontal eyebrows

Head And Neck- Face:
round face

Skeletal- Spine:
scoliosis (less common)

Cardiovascular- Heart:
atrial septal defect (less common)

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

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


Clinical features from OMIM:

615879

Human phenotypes related to Tatton-Brown-Rahman Syndrome:

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

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:

id Genetic test Affiliating Genes
1 Tatton-Brown-Rahman Syndrome 29 24 DNMT3A

Anatomical Context for Tatton-Brown-Rahman Syndrome

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

39
Myeloid

Publications for Tatton-Brown-Rahman Syndrome

Articles related to Tatton-Brown-Rahman Syndrome:

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

71
id Symbol AA change Variation ID SNP ID
1 DNMT3A p.Ile310Asn VAR_071463 rs587777508
2 DNMT3A p.Gly532Ser VAR_071464
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
9 DNMT3A p.Phe902Ser VAR_071471 rs587777510
10 DNMT3A p.Pro904Leu VAR_071472 rs149095705

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

6
id 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

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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