TBRS
MCID: TTT001
MIFTS: 44

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 57 58 72 36 29 6 39 70
Tbrs 57 72
Tatton-Brown-Rahman Overgrowth Syndrome 58
Dnmt3a-Related Overgrowth Syndrome 58
Dnmt3a Overgrowth Syndrome 72

Characteristics:

Orphanet epidemiological data:

58
tatton-brown-rahman syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Tatton-Brown-Rahman Syndrome

OMIM® : 57 Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and impaired intellectual development (Tatton-Brown et al., 2014). Some patients may have increased susceptibility to the development of acute myeloid leukemia (AML; 601626), particularly if they have DNMT3A mutations affecting the R882 residue (Hollink et al., 2017). (615879) (Updated 20-May-2021)

MalaCards based summary : Tatton-Brown-Rahman Syndrome, also known as tbrs, is related to rahman syndrome and dnmt3a overgrowth syndrome. 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. The drugs Lamivudine and Dolutegravir have been mentioned in the context of this disorder. Affiliated tissues include myeloid, pituitary and brain, and related phenotypes are umbilical hernia and atrial septal defect

KEGG : 36 Tatton-Brown-Rahman syndrome (TBRS) is a recently identified form of overgrowth syndrome, characterized by intellectual disabilities and facial feature. Mutations in the DNA methyltransferase gene DNMT3A cause TBRS. DNA methylation plays a critical role in both embryonic development and tumorigenesis.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Tatton-Brown-Rahman Syndrome

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:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 umbilical hernia 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001537
2 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
3 scoliosis 31 occasional (7.5%) HP:0002650
4 seizure 31 occasional (7.5%) HP:0001250
5 macrocephaly 58 31 Very frequent (99-80%) HP:0000256
6 round face 58 31 Occasional (29-5%) HP:0000311
7 narrow palpebral fissure 58 31 Occasional (29-5%) HP:0045025
8 intellectual disability 31 HP:0001249
9 seizures 58 Occasional (29-5%)
10 developmental regression 58 Occasional (29-5%)
11 coarse facial features 58 Occasional (29-5%)
12 hypertelorism 58 Very rare (<4-1%)
13 behavioral abnormality 58 Frequent (79-30%)
14 mandibular prognathia 58 Very rare (<4-1%)
15 thick eyebrow 58 Occasional (29-5%)
16 intellectual disability, mild 58 Occasional (29-5%)
17 intellectual disability, severe 58 Occasional (29-5%)
18 cryptorchidism 58 Occasional (29-5%)
19 anxiety 58 Occasional (29-5%)
20 obesity 58 Frequent (79-30%)
21 short toe 58 Occasional (29-5%)
22 kyphoscoliosis 58 Frequent (79-30%)
23 mitral regurgitation 58 Very rare (<4-1%)
24 joint hypermobility 58 Occasional (29-5%)
25 patent ductus arteriosus 58 Very rare (<4-1%)
26 deep philtrum 58 Very rare (<4-1%)
27 ventriculomegaly 58 Occasional (29-5%)
28 intellectual disability, moderate 58 Frequent (79-30%)
29 bipolar affective disorder 58 Very rare (<4-1%)
30 schizophrenia 58 Occasional (29-5%)
31 blepharophimosis 31 HP:0000581
32 arnold-chiari malformation 58 Occasional (29-5%)
33 tall stature 31 HP:0000098
34 short columella 58 Very rare (<4-1%)
35 tricuspid regurgitation 58 Very rare (<4-1%)
36 aortic root aneurysm 58 Very rare (<4-1%)
37 aggressive behavior 58 Very rare (<4-1%)
38 encephalomalacia 31 HP:0040197
39 generalized hypotonia 31 HP:0001290
40 optic nerve hypoplasia 31 HP:0000609
41 proportionate short stature 58 Very rare (<4-1%)
42 myeloid leukemia 58 Very rare (<4-1%)
43 infantile muscular hypotonia 58 Frequent (79-30%)
44 neuroendocrine neoplasm 58 Very rare (<4-1%)
45 arnold-chiari type i malformation 31 HP:0007099
46 proportionate tall stature 58 Very frequent (99-80%)
47 widely-spaced maxillary central incisors 58 Occasional (29-5%)
48 widely spaced toes 58 Occasional (29-5%)
49 supraventricular tachycardia with an accessory connection mediated pathway 58 Very rare (<4-1%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen External Features:
umbilical hernia

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

Cardiovascular Heart:
atrial septal defect (less common)

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

Head And Neck Face:
round face

Head And Neck Eyes:
narrow palpebral fissures
heavy horizontal eyebrows

Skeletal Spine:
scoliosis (less common)

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

Neoplasia:
increased risk of acute myeloid leukemia, particularly associated with r882 mutations

Clinical features from OMIM®:

615879 (Updated 20-May-2021)

Drugs & Therapeutics for Tatton-Brown-Rahman Syndrome

Drugs for Tatton-Brown-Rahman Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
2
Dolutegravir Approved Phase 3 1051375-16-6 54726191
3
Tenofovir Experimental, Investigational Phase 3 147127-20-6 464205
4
Efavirenz Approved, Investigational Phase 2 154598-52-4 64139
5
Emtricitabine Approved, Investigational Phase 2 143491-57-0 60877
6
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
7 Anti-Infective Agents Phase 1, Phase 2
8 Anti-HIV Agents Phase 1, Phase 2
9 Antiviral Agents Phase 1, Phase 2
10 Reverse Transcriptase Inhibitors Phase 2
11 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 2
12 Cytochrome P-450 Enzyme Inhibitors Phase 2
13 Pharmaceutical Solutions Phase 2
14 Insulin, Globin Zinc
15 insulin
16 Anti-Retroviral Agents
17 TAK-652

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase III, Randomized, Multicenter, Parallel-group, Non-inferiority Study Evaluating the Efficacy, Safety, and Tolerability of Switching to Dolutegravir Plus Lamivudine in HIV-1 Infected Adults Who Are Virologically Suppressed Active, not recruiting NCT03446573 Phase 3 DTG + 3TC;TAF based regimen (TBR)
2 A Proof of Concept, Multiple Dose-Escalating Study to Evaluate the Antiviral Activity, Safety, and Pharmacokinetics of the CCR5 Antagonist TBR 652 in HIV 1-Infected, Antiretroviral Treatment-Experienced, CCR5 Antagonist-Naïve Patients Completed NCT01092104 Phase 1, Phase 2 TBR-652;TBR-652 Matching Placebo;TBR-652 50 mg;TBR-652 75 mg;TBR-652 100 mg;TBR-652 150 mg
3 A Phase 2b Randomized, Double-Blind, Double-Dummy Trial of 100 or 200 mg Once-Daily Doses of Cenicriviroc (CVC, TBR 652) or Once-Daily EFV, Each With Open-Label FTC/TDF, in HIV 1-Infected, Antiretroviral Treatment-Naïve, Adult Patients With Only CCR5-Tropic Virus Completed NCT01338883 Phase 2 Cenicriviroc 100 mg;Cenicriviroc 200 mg + Truvada;Sustiva + Truvada
4 A Phase 2, Single-Center, Open Label Study of Autologous, Adoptive Cell Therapy Following a Reduced Intensity, Non-myeloablative, Lymphodepleting Induction Regimen in Metastatic Ovarian Recruiting NCT03412526 Phase 2 Fludarabine;IL-2
5 A One Year, Randomized, Double-Blind, Placebo-Controlled Study of TBR-760 in Adult Patients With Non-Functioning Pituitary Adenomas Not yet recruiting NCT04335357 Phase 2 TBR-760;Placebo
6 Double-Blind 2-Site Randomized Clinical Trial of Neurofeedback for ADHD Completed NCT02251743
7 Time in Range (TIR) and Time Below Range (TBR) in Insulin-Treated Elderly Patients With Type 2 Diabetes Not yet recruiting NCT04411277
8 A Phase 2b Randomized, Double-Blind, Double-Dummy Trial of 100 or 200 mg Once-Daily Doses of Cenicriviroc (CVC, TBR-652) or Once-Daily EFV, Each With Open-Label FTC/TDF, in HIV-1-Infected, Antiretroviral Treatment-Naïve, Adult Patients With Only CCR5-Tropic Virus Terminated NCT01474954

Search 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:

40
Myeloid, Pituitary, Brain, Breast, Thyroid, Prostate, Heart

Publications for Tatton-Brown-Rahman Syndrome

Articles related to Tatton-Brown-Rahman Syndrome:

(show top 50) (show all 229)
# Title Authors PMID Year
1
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 57 6 61
28941052 2017
2
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. 61 57 6
27991732 2017
3
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 6 57
24614070 2014
4
Tatton-Brown-Rahman syndrome: Six individuals with novel features. 57 61
31961069 2020
5
Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. 61 57
28432085 2017
6
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort. 6
27317772 2016
7
CLTC as a clinically novel gene associated with multiple malformations and developmental delay. 57
26822784 2016
8
DNMT3A mutations in acute myeloid leukemia. 6
21067377 2010
9
Effect of Formalin Fixation for Near-Infrared Fluorescence Imaging with an Antibody-Dye Conjugate in Head and Neck Cancer Patients. 61
33078373 2021
10
The Role of [18F]Fluciclovine PET/CT in the Characterization of High-Risk Primary Prostate Cancer: Comparison with [11C]Choline PET/CT and Histopathological Analysis. 61
33805543 2021
11
Near-infrared fluorescence-guided resection of micrometastases derived from esophageal squamous cell carcinoma using a c-Met-targeted probe in a preclinical xenograft model. 61
33636245 2021
12
ImmunoPET imaging of human CD8+ T cells with novel 68Ga-labeled nanobody companion diagnostic agents. 61
33563286 2021
13
CXCR4 PET imaging of mantle cell lymphoma using [68Ga]Pentixafor: comparison with [18F]FDG-PET. 61
33391493 2021
14
Manipulating Particle Chemistry for Hollow Carbon-based Nanospheres: Synthesis Strategies, Mechanistic Insights, and Electrochemical Applications. 61
33284018 2021
15
Evaluation of image quality at the detector's edge of dedicated breast positron emission tomography. 61
33462645 2021
16
MRI and 18FET-PET Predict Survival Benefit from Bevacizumab Plus Radiotherapy in Patients with Isocitrate Dehydrogenase Wild-type Glioblastoma: Results from the Randomized ARTE Trial. 61
32967939 2021
17
Endoscopic Fluorescence-Guided Surgery for Sinonasal Cancer Using an Antibody-Dye Conjugate. 61
31854462 2020
18
Behavioral and dental management of a patient with Tatton-Brown-Rahman syndrome: Case report. 61
32815590 2020
19
How fast can people refresh and rehearse information in working memory? 61
32562250 2020
20
Fluorescently Labeled Cetuximab-IRDye800 for Guided Surgical Excision of Ameloblastoma: A Proof of Principle Study. 61
32554066 2020
21
[Tatton-Brown-Rahman syndrome associated with the DNMT3A gene: a case report and literature review]. 61
33059810 2020
22
Serum uric acid in asymptomatic adults is weakly associated with carotid artery FDG uptake but not intima-media thickness. 61
30155781 2020
23
Different Spectral Analysis Methods for the Theta/Beta Ratio Calculate Different Ratios But Do Not Distinguish ADHD from Controls. 61
32436141 2020
24
Accuracy of metabolic volume and total glycolysis among six threshold-based target segmentation algorithms. 61
32529551 2020
25
Radiation Dosimetry and Biodistribution of 68Ga-FAPI-46 PET Imaging in Cancer Patients. 61
31836685 2020
26
Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes. 61
31845314 2020
27
Regulation of tartary buckwheat-resistant starch on intestinal microflora in mice fed with high-fat diet. 61
32724589 2020
28
A prospective cohort study to analyze the interaction of tumor-to-breast volume in breast conservation therapy versus mastectomy with reconstruction. 61
32350679 2020
29
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder. 61
33419997 2020
30
Imaging Inflammation in Atherosclerosis with CXCR4-Directed 68Ga-Pentixafor PET/CT: Correlation with 18F-FDG PET/CT. 61
31653710 2020
31
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. 61
31685998 2020
32
Characterization of heterogeneity of hypoxia with 18FMISO PET/CT, BOLD fMRI and immunohistochemistry in human breast tumor xenograft: initial study. 61
32286767 2020
33
Acromegaly in the setting of Tatton-Brown-Rahman Syndrome. 61
31858400 2020
34
On some of the main criticisms of the modal model: Reappraisal from a TBRS perspective. 61
31641994 2020
35
Physician Preceptor Satisfaction and Productivity Across Curricula: A Comparison Between Longitudinal Integrated Clerkships And Traditional Block Rotations. 61
31762321 2020
36
Nanoscale thermal transport across an GaAs/AlGaAs heterostructure interface. 61
32206690 2020
37
EEG Theta/Beta Ratio Calculations Differ Between Various EEG Neurofeedback and Assessment Software Packages: Clinical Interpretation. 61
31845611 2020
38
Tissue distribution and bioaccumulation of a novel polyfluoroalkyl benzenesulfonate in crucian carp. 61
31881427 2020
39
Imaging inflammation in atherosclerotic plaques, targeting SST2 with [111In]In-DOTA-JR11. 61
32026330 2020
40
Optimal Dosing Strategy for Fluorescence-Guided Surgery with Panitumumab-IRDye800CW in Head and Neck Cancer. 61
31054001 2020
41
Comparison of a Short Versus Long Stokes Shift Near-Infrared Dye During Intraoperative Molecular Imaging. 61
31820349 2020
42
A Matrix-Correction Approach to Estimate the Bioaccumulation Potential of Emerging PFASs. 61
31904951 2020
43
Predictors of 18F-sodium fluoride uptake in patients with stable coronary artery disease and adverse plaque features on computed tomography angiography. 61
31211387 2020
44
Systemic atherosclerotic plaque vulnerability in patients with Coronary Artery Disease with a single Whole Body FDG PET-CT scan. 61
32064279 2020
45
Greater aortic inflammation and calcification in abdominal aortic aneurysmal disease than atherosclerosis: a prospective matched cohort study. 61
32201583 2020
46
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder. 61
32435502 2020
47
Associations of Alpha and Beta Interhemispheric EEG Coherences with Indices of Attentional Control and Academic Performance. 61
32089751 2020
48
Intraoperative Tumor Assessment Using Real-Time Molecular Imaging in Head and Neck Cancer Patients. 61
31568855 2019
49
Cardiovascular 18F-fluoride positron emission tomography-magnetic resonance imaging: A comparison study. 61
31792913 2019
50
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln). 61
31905446 2019

Variations for Tatton-Brown-Rahman Syndrome

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

6 (show top 50) (show all 81)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNMT3A NM_022552.5(DNMT3A):c.889_891del (p.Trp297del) Deletion Pathogenic 139615 rs587777506 GRCh37: 2:25470583-25470585
GRCh38: 2:25247714-25247716
2 DNMT3A NM_022552.5(DNMT3A):c.1943T>C (p.Leu648Pro) SNV Pathogenic 139616 rs587777507 GRCh37: 2:25464570-25464570
GRCh38: 2:25241701-25241701
3 DNMT3A NM_022552.5(DNMT3A):c.929T>A (p.Ile310Asn) SNV Pathogenic 139617 rs587777508 GRCh37: 2:25470545-25470545
GRCh38: 2:25247676-25247676
4 DNMT3A NM_022552.5(DNMT3A):c.1643T>A (p.Met548Lys) SNV Pathogenic 139618 rs587777509 GRCh37: 2:25467433-25467433
GRCh38: 2:25244564-25244564
5 DNMT3A NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser) SNV Pathogenic 139619 rs587777510 GRCh37: 2:25457182-25457182
GRCh38: 2:25234313-25234313
6 DNMT3A NM_022552.5(DNMT3A):c.735del (p.Ala246fs) Deletion Pathogenic 475178 rs1553414406 GRCh37: 2:25471026-25471026
GRCh38: 2:25248157-25248157
7 DNMT3A NM_022552.5(DNMT3A):c.958C>T (p.Arg320Ter) SNV Pathogenic 955045 GRCh37: 2:25470516-25470516
GRCh38: 2:25247647-25247647
8 DNMT3A NM_022552.5(DNMT3A):c.1363A>T (p.Lys455Ter) SNV Pathogenic 970008 GRCh37: 2:25469095-25469095
GRCh38: 2:25246226-25246226
9 DNMT3A NM_022552.5(DNMT3A):c.1510del (p.Leu504fs) Deletion Pathogenic 541936 rs1553412880 GRCh37: 2:25468166-25468166
GRCh38: 2:25245297-25245297
10 DNMT3A NM_022552.5(DNMT3A):c.1060_1069del (p.Phe354fs) Deletion Pathogenic 569775 rs1558671136 GRCh37: 2:25469973-25469982
GRCh38: 2:25247104-25247113
11 DNMT3A NM_022552.5(DNMT3A):c.1243del (p.Gln415fs) Deletion Pathogenic 574227 rs1558669964 GRCh37: 2:25469525-25469525
GRCh38: 2:25246656-25246656
12 DNMT3A NM_022552.5(DNMT3A):c.2385G>A (p.Trp795Ter) SNV Pathogenic 656461 rs1395575712 GRCh37: 2:25462022-25462022
GRCh38: 2:25239153-25239153
13 DNMT3A NM_022552.5(DNMT3A):c.1937-2A>G SNV Pathogenic 979198 GRCh37: 2:25464578-25464578
GRCh38: 2:25241709-25241709
14 DNMT3A NM_153759.3(DNMT3A):c.1300del (p.Tyr434fs) Deletion Pathogenic 631520 rs1553412022 GRCh37: 2:25466836-25466836
GRCh38: 2:25243967-25243967
15 DNMT3A NM_022552.5(DNMT3A):c.1628dup (p.Arg544fs) Duplication Pathogenic 559440 rs1164367418 GRCh37: 2:25467447-25467448
GRCh38: 2:25244578-25244579
16 overlap with 2 genes NC_000002.12:g.(?_25234259)_(25345952_?)del Deletion Pathogenic 584232 GRCh37: 2:25457128-25568821
GRCh38: 2:25234259-25345952
17 DNMT3A NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) SNV Pathogenic 419534 rs779626155 GRCh37: 2:25463182-25463182
GRCh38: 2:25240313-25240313
18 EIF3F NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) SNV Pathogenic 617475 rs141976414 GRCh37: 11:8016013-8016013
GRCh38: 11:7994466-7994466
19 DNMT3A NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) SNV Pathogenic 375882 rs377577594 GRCh37: 2:25457243-25457243
GRCh38: 2:25234374-25234374
20 DNMT3A NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys) SNV Likely pathogenic 546858 rs367909007 GRCh37: 2:25463541-25463541
GRCh38: 2:25240672-25240672
21 DPP6 NM_130797.4(DPP6):c.914G>A (p.Trp305Ter) SNV Likely pathogenic 982749 GRCh37: 7:154561157-154561157
GRCh38: 7:154769447-154769447
22 DNMT3A NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln) SNV Likely pathogenic 438287 rs757823678 GRCh37: 2:25463181-25463181
GRCh38: 2:25240312-25240312
23 DNMT3A NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg) SNV Likely pathogenic 620042 rs771174392 GRCh37: 2:25458648-25458648
GRCh38: 2:25235779-25235779
24 DNMT3A NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu) SNV Likely pathogenic 620043 rs759380437 GRCh37: 2:25470554-25470554
GRCh38: 2:25247685-25247685
25 DNMT3A NM_022552.5(DNMT3A):c.2495C>T (p.Thr832Ile) SNV Likely pathogenic 648721 rs1573297136 GRCh37: 2:25458678-25458678
GRCh38: 2:25235809-25235809
26 DNMT3A NM_022552.5(DNMT3A):c.2086C>T (p.Gln696Ter) SNV Likely pathogenic 559654 rs750325978 GRCh37: 2:25463596-25463596
GRCh38: 2:25240727-25240727
27 DNMT3A NM_022552.5(DNMT3A):c.1634A>G (p.Glu545Gly) SNV Likely pathogenic 559889 rs1553412485 GRCh37: 2:25467442-25467442
GRCh38: 2:25244573-25244573
28 DNMT3A NM_022552.5(DNMT3A):c.2540_2541del (p.His847fs) Deletion Likely pathogenic 577390 rs1558653090 GRCh37: 2:25458632-25458633
GRCh38: 2:25235763-25235764
29 DNMT3A NM_022552.5(DNMT3A):c.895A>C (p.Lys299Gln) SNV Likely pathogenic 266030 rs766858016 GRCh37: 2:25470579-25470579
GRCh38: 2:25247710-25247710
30 DNMT3A NM_175629.2(DNMT3A):c.639+6G>C SNV Uncertain significance 662257 rs559534512 GRCh37: 2:25497804-25497804
GRCh38: 2:25274935-25274935
31 DNMT3A NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln) SNV Uncertain significance 828144 rs1573454800 GRCh37: 2:25523048-25523048
GRCh38: 2:25300179-25300179
32 DNMT3A NM_022552.5(DNMT3A):c.446C>T (p.Ala149Val) SNV Uncertain significance 951362 GRCh37: 2:25505312-25505312
GRCh38: 2:25282443-25282443
33 DNMT3A NM_022552.5(DNMT3A):c.447G>A (p.Ala149=) SNV Uncertain significance 475177 rs763553315 GRCh37: 2:25505311-25505311
GRCh38: 2:25282442-25282442
34 DNMT3A NM_022552.5(DNMT3A):c.855G>A (p.Glu285=) SNV Uncertain significance 639320 rs1573342453 GRCh37: 2:25470906-25470906
GRCh38: 2:25248037-25248037
35 DNMT3A NM_022552.5(DNMT3A):c.2309C>T (p.Ser770Leu) SNV Uncertain significance 644499 rs758845779 GRCh37: 2:25463184-25463184
GRCh38: 2:25240315-25240315
36 DNMT3A NM_022552.5(DNMT3A):c.1490G>C (p.Cys497Ser) SNV Uncertain significance 659100 rs779323387 GRCh37: 2:25468186-25468186
GRCh38: 2:25245317-25245317
37 DNMT3A NM_022552.5(DNMT3A):c.1122+3G>A SNV Uncertain significance 836804 GRCh37: 2:25469917-25469917
GRCh38: 2:25247048-25247048
38 DNMT3A NM_022552.5(DNMT3A):c.736G>A (p.Ala246Thr) SNV Uncertain significance 841582 GRCh37: 2:25471025-25471025
GRCh38: 2:25248156-25248156
39 DNMT3A NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) SNV Uncertain significance 284904 rs144689354 GRCh37: 2:25466800-25466800
GRCh38: 2:25243931-25243931
40 DNMT3A NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys) SNV Uncertain significance 392082 rs769419803 GRCh37: 2:25467132-25467132
GRCh38: 2:25244263-25244263
41 DNMT3A NM_022552.5(DNMT3A):c.2026C>T (p.Arg676Trp) SNV Uncertain significance 998917 GRCh37: 2:25464487-25464487
GRCh38: 2:25241618-25241618
42 DNMT3A NM_022552.5(DNMT3A):c.700G>A (p.Gly234Arg) SNV Uncertain significance 840528 GRCh37: 2:25471061-25471061
GRCh38: 2:25248192-25248192
43 DNMT3A NM_022552.5(DNMT3A):c.1706C>T (p.Pro569Leu) SNV Uncertain significance 855198 GRCh37: 2:25467169-25467169
GRCh38: 2:25244300-25244300
44 DNMT3A NM_022552.5(DNMT3A):c.240G>A (p.Gln80=) SNV Uncertain significance 864277 GRCh37: 2:25505518-25505518
GRCh38: 2:25282649-25282649
45 DNMT3A NM_022552.5(DNMT3A):c.2063G>A (p.Arg688His) SNV Uncertain significance 650730 rs369713081 GRCh37: 2:25464450-25464450
GRCh38: 2:25241581-25241581
46 DNMT3A NM_022552.5(DNMT3A):c.230C>T (p.Ser77Phe) SNV Uncertain significance 1029293 GRCh37: 2:25505528-25505528
GRCh38: 2:25282659-25282659
47 DNMT3A NM_022552.5(DNMT3A):c.386C>T (p.Ser129Leu) SNV Uncertain significance 1042707 GRCh37: 2:25505372-25505372
GRCh38: 2:25282503-25282503
48 DNMT3A NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) SNV Uncertain significance 375881 rs147001633 GRCh37: 2:25457242-25457242
GRCh38: 2:25234373-25234373
49 DNMT3A NM_022552.5(DNMT3A):c.1684T>C (p.Cys562Arg) SNV Uncertain significance 379924 rs1057520788 GRCh37: 2:25467191-25467191
GRCh38: 2:25244322-25244322
50 DNMT3A NC_000002.12:g.(?_25300139)_(25300243_?)del Deletion Uncertain significance 643714 GRCh37: 2:25523008-25523112
GRCh38: 2:25300139-25300243

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

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 DNMT3A p.Arg882Cys VAR_067236 rs377577594
2 DNMT3A p.Arg882His VAR_067237 rs147001633
3 DNMT3A p.Ile310Asn VAR_071463 rs587777508
4 DNMT3A p.Gly532Ser VAR_071464 rs951361433
5 DNMT3A p.Met548Lys VAR_071465 rs587777509
6 DNMT3A p.Cys549Arg VAR_071466
7 DNMT3A p.Leu648Pro VAR_071467 rs587777507
8 DNMT3A p.Pro700Leu VAR_071468 rs772368909
9 DNMT3A p.Arg749Cys VAR_071469 rs754613602
10 DNMT3A p.Asn838Asp VAR_071470 rs961377711
11 DNMT3A p.Phe902Ser VAR_071471 rs587777510
12 DNMT3A p.Pro904Leu VAR_071472 rs149095705

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:

36
# Name Kegg Source Accession
1 Cysteine and methionine metabolism hsa00270

GO Terms for Tatton-Brown-Rahman Syndrome

Biological processes related to Tatton-Brown-Rahman Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 8.62 EIF3F DPP6

Sources for Tatton-Brown-Rahman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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