TBRS
MCID: TTT001
MIFTS: 73

Tatton-Brown-Rahman Syndrome (TBRS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Tatton-Brown-Rahman Syndrome

MalaCards integrated aliases for Tatton-Brown-Rahman Syndrome:

Name: Tatton-Brown-Rahman Syndrome 57 11 24 42 58 73 5 71
Dnmt3a Overgrowth Syndrome 11 24 42 73
Tbrs 57 11 42 73
Tatton-Brown-Rahman Overgrowth Syndrome 11 58
Dnmt3a-Related Overgrowth Syndrome 58
Doid:0112339 14
Dose 16
Dos 11

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
de novo mutation


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Tatton-Brown-Rahman Syndrome

MedlinePlus Genetics: 42 DNMT3A overgrowth syndrome is a disorder characterized by faster than normal growth before and after birth, subtle differences in facial features, and intellectual disability.Individuals with DNMT3A overgrowth syndrome are often longer than normal at birth and are taller than their peers throughout life. Many affected individuals become overweight in late childhood or adolescence. They may also have an abnormally large head size (macrocephaly).The characteristic facial appearance of individuals with DNMT3A overgrowth syndrome includes a round face; thick, horizontal eyebrows; and narrowed openings of the eyes (narrowed palpebral fissures). Additionally, the upper front teeth are often larger than normal.Intellectual disability in DNMT3A overgrowth syndrome ranges from mild to severe. Individuals may have features of autism spectrum disorder, which are characterized by impaired communication and socialization skills.Individuals with DNMT3A overgrowth syndrome may have other signs and symptoms, including a rounded upper back that also curves to the side (kyphoscoliosis), heart defects, flat feet (pes planus), weak muscle tone (hypotonia), or joints that are loose and very flexible (hypermobile joints). Psychological disorders such as depression, anxiety, or obsessive-compulsive disorder can also occur in this disorder.

MalaCards based summary: Tatton-Brown-Rahman Syndrome, also known as dnmt3a overgrowth syndrome, is related to overgrowth syndrome and adult syndrome. An important gene associated with Tatton-Brown-Rahman Syndrome is DNMT3A (DNA Methyltransferase 3 Alpha), and among its related pathways/superpathways are One-carbon metabolism and related pathways and Chromatin Regulation / Acetylation. The drugs Nutmeg and Norethisterone have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and prostate, and related phenotypes are macrocephaly and proportionate tall stature

OMIM®: 57 Tatton-Brown-Rahman syndrome (TBRS) 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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.

Disease Ontology: 11 A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has material basis in heterozygous mutation in DNMT3A on chromosome 2p23.3.

GeneReviews: NBK581652

Related Diseases for Tatton-Brown-Rahman Syndrome

Diseases related to Tatton-Brown-Rahman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 4317)
# Related Disease Score Top Affiliating Genes
1 overgrowth syndrome 31.4 NSD1 DNMT3A CHD8
2 adult syndrome 30.9 DNMT3B DNMT3A DNMT1
3 myeloproliferative neoplasm 29.9 TET2 EZH2 DNMT3A
4 mature t-cell and nk-cell lymphoma 29.9 TET2 DNMT3A DNMT1
5 essential thrombocythemia 29.9 TET2 EZH2 DNMT3A
6 macroglossia 29.7 NSD1 DNMT3B
7 myelodysplastic syndrome 29.6 TET3 TET2 NSD1 EZH2 DNMT3B DNMT3A
8 plasma cell neoplasm 29.6 TET3 TET2 DNMT3A
9 leukemia, acute myeloid 29.5 TET3 TET2 NSD1 EZH2 DNMT3B DNMT3A
10 sotos syndrome 29.4 NSD1 EZH2 DNMT3L DNMT3B DNMT3A DNMT1
11 bone marrow cancer 29.4 TET2 EZH2 DNMT3A
12 chronic myelomonocytic leukemia 29.4 TET3 TET2 EZH2 DNMT3A DNMT1
13 chronic leukemia 29.2 TET3 TET2 EZH2 DNMT3A
14 helsmoortel-van der aa syndrome 29.1 ZBTB24 CHD8 ATRX
15 hyperoxaluria, primary, type i 29.0 ZNF23 EZH2 DNMT3B DNMT3A DNMT1
16 juvenile myelomonocytic leukemia 29.0 TET2 EZH2 DNMT3A
17 kabuki syndrome 1 29.0 ZBTB24 NSD1 EZH2 CHD8
18 primary hyperoxaluria 28.9 ZNF23 EZH2 DNMT3L DNMT3B DNMT3A DNMT1
19 beckwith-wiedemann syndrome 28.8 NSD1 EZH2 DNMT3L DNMT3B DNMT3A DNMT1
20 rett syndrome 28.8 TET3 TET2 EZH2 ATRX
21 alpha-thalassemia 28.8 NSD1 EZH2 DNMT3L DNMT3B DNMT3A DNMT1
22 stocco dos santos type x-linked intellectual disability 11.6
23 intellectual developmental disorder, x-linked, syndromic, stocco dos santos type 11.4
24 leukemia, chronic myeloid 11.2
25 coumarin resistance 11.2
26 leukemia, acute lymphoblastic 11.2
27 hepatic veno-occlusive disease 11.1
28 neuroblastoma 11.1
29 mercury poisoning 11.1
30 conn's syndrome 11.0
31 brown-vialetto-van laere syndrome 2 11.0
32 radiation induced cancer 11.0
33 opiate dependence 11.0
34 kawasaki disease 11.0
35 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.0
36 vaginitis 11.0
37 ataxia-telangiectasia 11.0
38 pneumothorax, primary spontaneous 11.0
39 brain abnormalities, neurodegeneration, and dysosteosclerosis 11.0
40 bone marrow failure and diabetes mellitus syndrome 11.0
41 arthrogryposis and ectodermal dysplasia 11.0
42 anophthalmia megalocornea cardiopathy skeletal anomalies 11.0
43 factor vii deficiency 11.0
44 lymphoma, hodgkin, classic 11.0
45 lymphoma 11.0
46 warfarin sensitivity, x-linked 10.9
47 myeloma, multiple 10.9
48 rahman syndrome 10.9
49 hist1h1e syndrome 10.9
50 mucositis 10.9

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 30 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000256
2 proportionate tall stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011407
3 obesity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001513
4 kyphoscoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002751
5 intellectual disability, moderate 58 30 Frequent (33%) Frequent (79-30%)
HP:0002342
6 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
7 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
8 developmental regression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002376
9 coarse facial features 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000280
10 thick eyebrow 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000574
11 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001256
12 intellectual disability, severe 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010864
13 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
14 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
15 atrial septal defect 58 30 Very rare (1%) Occasional (29-5%)
HP:0001631
16 short toe 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001831
17 joint hypermobility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001382
18 ventriculomegaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0002119
19 schizophrenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100753
20 round face 58 30 Very rare (1%) Occasional (29-5%)
HP:0000311
21 narrow palpebral fissure 58 30 Very rare (1%) Occasional (29-5%)
HP:0045025
22 widely-spaced maxillary central incisors 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001566
23 widely spaced toes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008094
24 chiari malformation 30 Occasional (7.5%) HP:0002308
25 hypertelorism 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000316
26 mandibular prognathia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000303
27 umbilical hernia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001537
28 mitral regurgitation 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001653
29 patent ductus arteriosus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001643
30 deep philtrum 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002002
31 bipolar affective disorder 58 30 Very rare (1%) Very rare (<4-1%)
HP:0007302
32 short columella 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002000
33 tricuspid regurgitation 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005180
34 aortic root aneurysm 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002616
35 aggressive behavior 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000718
36 proportionate short stature 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003508
37 myeloid leukemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012324
38 neuroendocrine neoplasm 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100634
39 supraventricular tachycardia with an accessory connection mediated pathway 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011688
40 intellectual disability 30 Very rare (1%) HP:0001249
41 scoliosis 30 Very rare (1%) HP:0002650
42 hypotonia 30 Very rare (1%) HP:0001252
43 global developmental delay 30 Very rare (1%) HP:0001263
44 anteverted nares 30 Very rare (1%) HP:0000463
45 epicanthus 30 Very rare (1%) HP:0000286
46 vesicoureteral reflux 30 Very rare (1%) HP:0000076
47 ventricular septal defect 30 Very rare (1%) HP:0001629
48 everted upper lip vermilion 30 Very rare (1%) HP:0010803
49 thin vermilion border 30 Very rare (1%) HP:0000233
50 hemihypertrophy 30 Very rare (1%) HP:0001528

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hypotonia
encephalomalacia
optic nerve hypoplasia
chiari i malformation
seizures (less common)
more
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)

Abdomen External Features:
umbilical hernia

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
increased risk of hematopoietic malignancies

Clinical features from OMIM®:

615879 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Tatton-Brown-Rahman Syndrome according to GeneCards Suite gene sharing:

25 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-10 9.75 PAXBP1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.75 PAXBP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 ZBTB24
4 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.75 EZH2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.75 ZBTB24
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.75 ZBTB24
7 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.75 PAXBP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.75 ZBTB24
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.75 ATRX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.75 ZBTB24
11 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.75 ZBTB24
12 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.75 ZBTB24
13 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.75 EZH2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.75 EZH2 PAXBP1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.75 ZBTB24
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.75 ZBTB24
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.75 ZBTB24
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.75 ATRX PAXBP1 ZBTB24
19 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.75 ZBTB24
20 Increased shRNA abundance (Z-score > 2) GR00366-A-71 9.75 ATRX
21 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.75 ZBTB24
22 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.75 EZH2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.75 PAXBP1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.75 EZH2

MGI Mouse Phenotypes related to Tatton-Brown-Rahman Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.23 ATRX CHD8 DNMT1 DNMT3A DNMT3B DNMT3L

Drugs & Therapeutics for Tatton-Brown-Rahman Syndrome

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

(show top 50) (show all 2200)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nutmeg Approved Phase 4
2
Norethisterone Approved Phase 4 68-22-4 199472 6230
3
Teicoplanin Approved, Investigational Phase 4 61036-62-2 16170201
4
Copper Approved, Investigational Phase 4 7440-50-8 27099
5
Gatifloxacin Approved, Investigational, Withdrawn Phase 4 112811-59-3 5379
6
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
7
Tirofiban Approved Phase 4 144494-65-5 60947
8
Chloral hydrate Approved, Illicit, Investigational, Vet_approved Phase 4 302-17-0 2707
9
Etomidate Approved Phase 4 33125-97-2 667484
10
Rabeprazole Approved, Investigational Phase 4 117976-89-3, 117976-90-6 5029
11
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
12
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
13
Benserazide Approved, Investigational Phase 4 322-35-0 2327
14
Simeprevir Approved Phase 4 923604-59-5 66811198 24873435 66576988
15
Tiotropium Approved Phase 4 136310-93-5, 186691-13-4 3086655 5487427 5487426
16
Glyburide Approved Phase 4 10238-21-8 3488
17
Budesonide Approved Phase 4 51333-22-3 5281004 40000 63006
18
Deflazacort Approved, Investigational Phase 4 14484-47-0 26709 189821
19
Olodaterol Approved Phase 4 868049-49-4 9800339 11504295
20
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
21
Mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7 4240 441336
22
Famotidine Approved Phase 4 76824-35-6 3325 5702160
23
Hydrotalcite Approved, Experimental, Investigational Phase 4 12304-65-3
24
Theophylline Approved Phase 4 58-55-9 2153
25
Deoxycholic acid Approved Phase 4 83-44-3 222528
26
Simvastatin Approved Phase 4 79902-63-9 54454
27
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4
28
Lactitol Approved, Investigational Phase 4 585-86-4 157355
29
Fenofibrate Approved Phase 4 49562-28-9 3339
30
Voriconazole Approved Phase 4 137234-62-9 71616
31
Nifedipine Approved Phase 4 21829-25-4 4485
32
Candesartan cilexetil Approved Phase 4 145040-37-5
33
Ceftriaxone Approved Phase 4 73384-59-5 5479530
34
Liraglutide Approved Phase 4 204656-20-2 44147092 16134956
35
Mefloquine Approved, Investigational Phase 4 53230-10-7 4046
36
Piperaquine Approved, Experimental, Investigational Phase 4 4085-31-8
37
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
38
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
39
Halofantrine Approved Phase 4 69756-53-2 37393
40
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
41
Canagliflozin Approved Phase 4 842133-18-0 74323022 24812758
42
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
43
Lumiracoxib Approved, Investigational Phase 4 220991-20-8 151166
44
Ledipasvir Approved Phase 4 1256388-51-8 67505836
45
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
46
Sodium sulfate Approved, Vet_approved Phase 4 7757-82-6
47
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719 157920
48
Iodine Approved, Investigational Phase 4 7553-56-2 807
49
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
50
Capsaicin Approved Phase 4 404-86-4 1548943

Interventional clinical trials:

(show top 50) (show all 27548)
# Name Status NCT ID Phase Drugs
1 Prospective Randomized Study to Evaluate the Efficacy and Safety of Rabbit Antithymocyte Globulin 3mg/kg vs. 6mg/kg in Kidney Transplant Patients Under Steroid-free and CNI Minimization Maintenance Immunosuppressive Regimen Unknown status NCT03088280 Phase 4 Thymoglobulin
2 Effect of Perineural Dexmedetomidine on the ED50 Ropivacaine for Brachial Plexus Blocks in Pediatric Patients: a Randomized Trial Unknown status NCT02781246 Phase 4 perineural dexmedetomidine
3 The Safety and Efficacy of Albis®: The Prevention of Aspirin-induced Gastrointestinal Ulcers in Patients Taking Low-dose Aspirin, A Pilot Study Unknown status NCT01397240 Phase 4 Albis Tab;Placebo
4 Comparison of High-dose Furosemide Versus the Combination of Low-dose Furosemide and Low-dose Dopamine in Patients With Acute Decompensated Heart Failure Unknown status NCT00937092 Phase 4 Furosemide;low-dose dopamine + low-dose furosemide
5 Comparison of High-Dose Rosuvastatin Versus Low Statin Dose Plus Fenofibrate Versus Low Statin Dose Plus Niacin in the Treatment of Mixed Hyperlipidemia Unknown status NCT01010516 Phase 4 High-dose rosuvastatin;Statin plus fenofibrate;Statin plus niacin ER/laropiprant
6 Harmonizing Optimal Strategy for Treatment of Coronary Artery Diseases Trial - Comparison of REDUCTION of PrasugrEl Dose & POLYmer TECHnology in ACS Patients (HOST REDUCE POLYTECH RCT Trial) Comparison of the Efficacy and Safety of Biostable Polymer DES (Promus PremierTM, Xience Alpine®, and Resolute Onyx®) With Biodegradable Polymer DES (Biomatrix®, Biomatrix Flex®, Nobori®, Ultimaster®,Synergy®, and Orsiro®)and Conventional Dose Prasugrel Therapy With Reduced Dose Prasugrel Therapy in Acute Coronary Syndrome Patients Treated With Percutaneous Coronary Intervention Unknown status NCT02193971 Phase 4 Prasugrel 5mg
7 Low Dose Versus High Dose Steroids in Treatment of Viral Encephalitis Unknown status NCT04103684 Phase 4 Methylprednisolone;Dexamethasone
8 GLM Dose Optimisation to Adequate Levels to Achieve Response in Colitis (GOAL-ARC). A Nationwide Multi-centred Randomised Controlled Trial (RCT) Investigating the Use of GLM Dose Adjustment in Ulcerative Colitis (UC). Unknown status NCT02687724 Phase 4 Golimumab (GLM)
9 Comparison of Low-dose Heparin Versus Standard Dose Heparin During Coronary Interventions (DEDICA Trial) Unknown status NCT01694459 Phase 4 Low-dose heparin;Standard dose heparin
10 Immune Response to High-Dose vs. Standard Dose Influenza Vaccine Unknown status NCT02297542 Phase 4
11 To Evaluate Prevention Effect Of Everolimus and Low-dose Tacrolimus in Comparison With Standard-dose Tacrolimus Therapy With Mycophenolic Acid on the New Onset Diabetes Mellitus After Transplantation in the Renal Allograft Recipients Unknown status NCT02036554 Phase 4 Everolimus;Tacrolimus;Mycophenolic acid
12 A Prospective, Randomized, 3-arm Parallel Trial to Evaluate the Safety and Clinical Effectiveness of 2 Lower Dose Combined PDE5i's vs. Single Maximal Dose PDE5i Treatment Unknown status NCT00498680 Phase 4 Sildenafil, Vardenafil;Sildenafil;Vardenafil;Sildenafil & Vardenafil
13 A Comparison of High-dose Dual Therapy and Half-dose Clarithromycin-containing Bismuth Quadruple Therapy for H.P Eradication in Elderly Patients Unknown status NCT04101708 Phase 4 Lansoprazole, Amoxicillin;Lansoprazole, Amoxicillin,Clarithromycin and Bismuth subcitrate
14 Randomized Comparison of Fixed Low-dose Combination of THREE Antihypertensive Drugs Versus Fixed High-dose Combination of Two Antihypertensive Drugs in Arterial Hypertension (the 3D Trial) Unknown status NCT02710552 Phase 4 Tripliam (perindopril, indapamide, amlodipine);Reaptan (perindopril, amlodipine)
15 a Comparative Study of Aspirin Either at Fixed Dose or at a Dose Titrated by Platlet Function Analyzer(PFA-100) vs Placebo in Primary Prevention of Vascular Access for Hemodialysis Unknown status NCT02055131 Phase 4 aspirin
16 The Optimal Dose Of Dexamethasone To Be Used As An Adjuvant To Low Volume Bupivacaine Ultrasound Guided Supraclavicular Brachial Plexus Block. A Randomized Controlled Double Blinded Dose Ranging Study Unknown status NCT03043495 Phase 4 Dexamethasone
17 A Randomized Comparison of Low-dose Versus High-dose Rosuvastatin on Optical Coherence Tomography Based Early Vascular Healing for Patients With Acute Coronary Syndrome Unknown status NCT03007524 Phase 4 High dose Rosuvastatin;Low dose Rosuvastatin
18 Split-dose Versus Single-dose Polyethylene Glycol Regimen for Capsule Endoscopy Is Timing of Preparation for Capsule Endoscopy the Key for the Best Small-bowel Cleansing? Unknown status NCT02396017 Phase 4 Polyethylene Glycol
19 A Prospective, Randomized Trial of the Effect of Standard of Care Reduced Dose Versus Full Dose Buprenorphine/Naloxone in the Perioperative Period on Pain Control and Post Operative Opioid Use Disorder Symptoms Unknown status NCT03266445 Phase 4 buprenorphine/naloxone
20 A Randomized, Two-Way Crossover, Single-Dose Pharmacokinetic Study to Evaluate the Bioequivalence of a Test Formulation Compared to an Equivalent Dose of a Reference Drug Product (Nexium Powder for Injection and Infusion 40 mg) in Healthy Adult Subjects Unknown status NCT02444507 Phase 4 Nexium powder for injection and infusion 40 mg;Esomelone Powder for Solution for Injection / Infusion 40 mg
21 An Immunogenicity and Safety Study of Combined Adsorbed Tetanus, Low Dose Diphtheria and Acellular Pertussis Vaccine (Td5ap and Td1aP) Given as a School-leaving Booster to 14-15-year-old Children Primed With a Five Component Acellular Pertussis Vaccine at 3, 5 and 12 Months of Age, and a Booster Dose at 5½ Years of Age Unknown status NCT00870350 Phase 4
22 Comparative Effectiveness and Safety Analysis of Low-dose and Standard-dose Ticagrelor in Chinese Patients With Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention Unknown status NCT03381755 Phase 4 half-dose ticagrelor;standard-dose ticagrelor
23 International Multicenter Trial for the Evaluation of a Four-Drug Fixed Dose Combined Tablet Daily in the Initial Intensive Phase of Chemotherapy Followed by a Two-Drug Fixed Dose Combined Tablet Three Times a Week in the Continuation Phase for the Treatment of Pulmonary Tuberculosis Unknown status NCT00216333 Phase 4 combined fixed dose combination
24 Immunologic Response of Hepatitis B Single Dose Versus 3-dose Series in Previously Vaccinated HIV-infected Adults at Maharaj Nakorn Chiang Mai Hospital: A Randomized Controlled Trial Unknown status NCT03219203 Phase 4
25 A Prospective, Randomised, Open-labeled, Parallel Group Study to Assess the Efficacy and Safety of Low Dose Ticagrelor Compared With Standard Dose Ticagrelor in Patients With Unstable Angina Pectoris After Drug Eluting Stent Implantation Unknown status NCT03620760 Phase 4 Ticagrelor 90 mg;Ticagrelor 45 mg;Aspirin
26 Optimal Dose of Ticagrelor(90 mg qd)and Double Standard-dose Clopidogrel on Platelet Aggregation in Clopidogrel Resistance's Patients With Coronary Heart Disease Unknown status NCT03614832 Phase 4 Ticagrelor 90 mg;Clopidogrel 150 mg
27 LOW CYCLO: A Multicenter, Prospective, Randomized Study Evaluating the Benefit, on Renal Function, of Two Doses of Ciclosporine: Low Dose Versus Usual Dose, in Association With Mycophenolate and Corticoïds, in de Novo Cardiac Transplant Unknown status NCT00159159 Phase 4 Ciclosporine 130 µg/l < T0 ciclosporinemia < 200 µg/l;Ciclosporine 200 µg/l < T0 ciclosporinemia < 300 µg/l
28 A Randomized Control Trial Comparing 4L PEGlyte to Regular Dose Pico-Salax and Split Dose Pico-Salax for Colonoscopy Bowel Preparation in Hospitalized Patients Unknown status NCT01627171 Phase 4 Bisacodyl 10mg;Polyethelene Glycol;Picosulfate sodium
29 High Dose Versus Low Dose Heparinization in Patients Undergoing Offpump Coronary Artery Bypass Unknown status NCT02812355 Phase 4 Heparin
30 Intraoperative Tranexamic Acid Infusion in Low Dose Versus in High Dose for Reducing Blood Loss and Its Effect on Postoperative Thromboembolic Complications in Radical Cystectomy Operations Unknown status NCT04537533 Phase 4 Tranexamic acid
31 A Pilot Study to Evaluate the Efficacy of Fixed Dose Combination Clindamycin Phosphate 1.2%/Tretinoin 0.025% Gel Alone Versus Fixed Dose Combination Clindamycin Phosphate 1.2%/Tretinoin 0.025% Gel Plus Benzoyl Peroxide 6% Foaming Cloths in the Treatment of Facial Acne Vulgaris Unknown status NCT01422785 Phase 4 clindamycin phosphate 1.2%/tretinoin 0.025% gel alone;clindamycin phosphate 1.2%/tretinoin 0.025% gel plus benzoyl peroxide 6% foaming cloths
32 A Double Blind Study Comparing Low Dose and High Dose IV Esomeprazole After Successful Endoscopic Therapy in Patients With Peptic Ulcer Bleeding Unknown status NCT01275937 Phase 4 Esomeprazole;esomeprazole
33 A Prospective, Randomized, 3-arm Parallel Trial to Evaluate the Safety and Clinical Effectiveness of 2 Lower Dose Combined PDE5i's vs. Single Maximal Dose PDE5i Treatment Unknown status NCT01364701 Phase 4 Sildenafil 100 mg;Tadalafil 20 mg;Combination half of maximal dose for sildenafil & tadalafil
34 Effectiveness and Safety of Low-dose vs. High-dose Rosuvastatin on Long-term Cardiovascular Events in Korean Patients After Percutaneous Coronary Intervention: 30-month, Prospective, Single-center, Randomized Trial Unknown status NCT02859480 Phase 4 Rosuvastatin 5mg;Rosuvastatin 20mg
35 Low Dose Aspirin and Low-molecular-weight Heparin in the Treatment of Pregnant Libyan Women With Recurrent Miscarriage Unknown status NCT01917799 Phase 4 Aspirin;Heparin
36 Double-blind Randomized Controlled Clinical Trial of Low-dose Lenalidomide in the Treatment of COVID-19 Disease Unknown status NCT04361643 Phase 4 Lenalidomide as a 5 mg capsule PO daily, days 1, 3, and 5.;Placebo
37 Does Bowel Preparation (Either as a Single or Divided Dose) Produce Better Cleansing and Diagnostic Yield Than no Preparation at All in Small Bowel Capsule Endoscopy Unknown status NCT03351972 Phase 4 Klean Prep
38 Preoperative, Single-dose Intravenous Iron Formulation to Reduce Post-surgical Complications in Patients Undergoing Major Abdominal Surgery: a Pilot Randomised Control Trial (PIRCAS Trial - Pilot) Unknown status NCT03295851 Phase 4 Ferric carboxymaltose;Ferrous Fumarate
39 Low Dose Statins, Ezetimibe and Nutraceuticals in Coronary Artery Disease Patients Intolerant to High Intensity Statin Treatment (TArget ChOlesterol) Unknown status NCT03277079 Phase 4 statin + ezetimibe;statin + ezetimibe + Nutraceuticals
40 Nanoparticle Albumin-Bound Paclitaxel Followed by Dose-Intensive Epirubicin in Combination With Cyclophosphamide as Neoadjuvant Chemotherapy in Triple Negative Breast Cancer Unknown status NCT03799679 Phase 4 Chemotherapeutic Agent
41 A Randomized Comparison of Transitioning From Insulin GLargine to Insulin Degludec usING a Bridging Dose of Glargine Versus Direct Conversion, in Patients With Type 1 Diabetes Mellitus - a Pilot Study Unknown status NCT04623086 Phase 4 Insulin Degludec;Insulin Glargine;Placebo
42 Evaluation of High-dose Corticosteroids on Microcirculation Alterations in Cardiac Surgery, by FMD (Flow Mediated vasoDilation), Near Infrared Spectrophotometry (NIRS) and Biological Analysis (Syndecan-1) Unknown status NCT02798068 Phase 4 Solu-medrol or placebo administration
43 Paroxetines Effect on Tramadols Metabolism and Pharmakodynamics: a Dose Response Study Unknown status NCT00785603 Phase 4 Paroxetine;Paroxetin placebo;Tramadol
44 The Bucillamine Study of Holding Remission After Infliximab Dose-off in Patients With Rheumatoid Arthritis Receiving Methotrexate Unknown status NCT00716248 Phase 4 bucillamine;methotrexate
45 Study on Effectiveness of 2-dose Live Attenuated Varicella Vaccine Unknown status NCT02146469 Phase 4
46 Single Dose rATG for Treatment of Acute Renal Allograft Rejection Unknown status NCT02102854 Phase 4 rATG
47 The Compare the Effect of Peroperative Intravenous Single Dose Dexamethasone and the Addition of Dexamethasone to Femoral Nerve Block on Postoperative Analgesic Consumption Anf Patient Comfort in Unilateral Total Knee Arthroplasty Patients Unknown status NCT02090790 Phase 4 iv dexamethasone;femoral dexamethasone;serum physiologic
48 The Effect of Single Dose of Atorvastatin on Change of Circulating Endothelial Microparticles Unknown status NCT02023892 Phase 4 atorvastatin;placebo
49 Randomized Trial of the Association Between Low-Dose Statins and Nutraceuticals in High-intEnsity Statin-intoleRant patiENts With Very High Risk Coronary Artery diseasE Unknown status NCT02001883 Phase 4 Association low-dose statin and nutraceuticals
50 Study on Half-dose Photodynamic Therapy Versus Eplerenone in Chronic CenTRAl Serous Chorioretinopathy (SPECTRA Trial) Unknown status NCT03079141 Phase 4 Eplerenone

Search NIH Clinical Center for Tatton-Brown-Rahman Syndrome

Genetic Tests for Tatton-Brown-Rahman Syndrome

Anatomical Context for Tatton-Brown-Rahman Syndrome

Organs/tissues related to Tatton-Brown-Rahman Syndrome:

MalaCards : Myeloid, Bone Marrow, Prostate, Breast, Lung, T Cells, Heart

Publications for Tatton-Brown-Rahman Syndrome

Articles related to Tatton-Brown-Rahman Syndrome:

(show top 50) (show all 30299)
# Title Authors PMID Year
1
Tatton-Brown-Rahman syndrome: Six individuals with novel features. 62 24 57 5
31961069 2020
2
Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. 62 24 57 5
28432085 2017
3
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 62 24 57 5
28941052 2017
4
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. 62 24 57 5
27991732 2017
5
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24 57 5
24614070 2014
6
DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults. 62 24 57
34788385 2022
7
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. 62 24 5
29900417 2018
8
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. 24 5
30478443 2019
9
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort. 24 5
27317772 2016
10
DNMT3A mutations in acute myeloid leukemia. 24 5
21067377 2010
11
Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton-Brown-Rahman syndrome. 62 24
34644003 2022
12
Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome. 62 24
34315901 2021
13
Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma. 5
33182397 2020
14
Behavioral and dental management of a patient with Tatton-Brown-Rahman syndrome: Case report. 62 24
32815590 2020
15
Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes. 62 24
31845314 2020
16
Acromegaly in the setting of Tatton-Brown-Rahman Syndrome. 62 24
31858400 2020
17
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. 62 24
31685998 2020
18
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder. 62 24
32435502 2020
19
The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome. 62 24
31066180 2019
20
Gain-of-function mutations in DNMT3A in patients with paraganglioma. 5
29740169 2018
21
A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome. 62 24
28449304 2017
22
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 62 24
27701732 2017
23
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. 62 24
26866722 2016
24
CLTC as a clinically novel gene associated with multiple malformations and developmental delay. 57
26822784 2016
25
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. 24
32596782 2020
26
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 24
28475857 2017
27
Genomic Classification and Prognosis in Acute Myeloid Leukemia. 24
27276561 2016
28
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
29
Age-related clonal hematopoiesis associated with adverse outcomes. 24
25426837 2014
30
The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers. 24
24656771 2014
31
Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting. 24
15215868 2004
32
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 24
10555141 1999
33
Maternal caffeine consumption during pregnancy and risk of low birth weight: a dose-response meta-analysis of cohort studies. 62
34224282 2023
34
Ultra-processed food consumption and adult obesity risk: a systematic review and dose-response meta-analysis. 62
34190668 2023
35
Special issue "The advance of solid tumor research in China": 68Ga-PSMA-11 PET/CT for evaluating primary and metastatic lesions in different histological subtypes of renal cell carcinoma. 62
35751420 2023
36
Effect of stereotactic body radiotherapy dose escalation plus pembrolizumab and trametinib versus stereotactic body radiotherapy dose escalation plus gemcitabine for locally recurrent pancreatic cancer after surgical resection on survival outcomes: A secondary analysis of an open-label, randomised, controlled, phase 2 trial. 62
36471691 2023
37
The Use of High-Dose Corticosteroids Versus Low-Dose Corticosteroids With and Without Tocilizumab in COVID-19 Acute Respiratory Distress Syndrome. 62
35590468 2023
38
High-dose nitroglycerin infusion description of safety and efficacy in sympathetic crashing acute pulmonary edema: The HI-DOSE SCAPE study. 62
36327753 2023
39
Acceptability of the third dose of anti-SARS-CoV-2 vaccine co-administered with influenza vaccine: preliminary data in a sample of Italian HCWs. 62
34893012 2022
40
Immune persistence induced by two-dose BBIBP-CorV vaccine with different intervals, and immunogenicity and safety of a homologous booster dose in high-risk occupational population. 62
36303320 2022
41
A software tool for both the maximum tolerated dose and the optimal biological dose finding trials in early phase designs. 62
36203850 2022
42
Determining the effective dose of esketamine for mitigating pain during propofol injection by Dixon's up-and-down method: a double-blind, prospective clinical study of drug dose response. 62
36457068 2022
43
Combining the advantages of 3-D and 2-D templating of total hip arthroplasty using a new tin-filtered ultra-low-dose CT of the hip with comparable radiation dose to conventional radiographs. 62
36460762 2022
44
Comparison of Dose Adjustment Strategies for Obesity in High-dose Cyclophosphamide Among Adult Hematopoietic Cell Transplantation Recipients: Pharmacokinetic Analysis. 62
36167308 2022
45
Tranexamic acid dose-response relationship for antifibrinolysis in postpartum haemorrhage during Caesarean delivery: TRACES, a double-blind, placebo-controlled, multicentre, dose-ranging biomarker study. 62
36243576 2022
46
Effects of Low-dose and High-dose Rifaximin in the Treatment of Covert Hepatic Encephalopathy. 62
36381088 2022
47
Low-Dose CT Imaging of the Pelvis in Follow-up Examinations-Significant Dose Reduction and Impact of Tin Filtration: Evaluation by Phantom Studies and First Systematic Retrospective Patient Analyses. 62
35776429 2022
48
Targeting Sclerostin and Dkk1 at Optimized Proportions of Low-Dose Antibody Achieves Similar Skeletal Benefits to Higher-Dose Sclerostin Targeting in the Mature Adult and Aged Skeleton. 62
36465166 2022
49
Screening of an annexin-A2-targeted heptapeptide for pancreatic adenocarcinoma localization. 62
36453020 2022
50
Diagnostic Value of 18 F-FACBC PET/MRI in Brain Metastases. 62
36241129 2022

Variations for Tatton-Brown-Rahman Syndrome

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

5 (show top 50) (show all 143)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNMT3A NM_022552.5(DNMT3A):c.889_891del (p.Trp297del) DEL 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.1628dup (p.Arg544fs) DUP Pathogenic
559440 rs1164367418 GRCh37: 2:25467447-25467448
GRCh38: 2:25244578-25244579
7 DNMT3A NM_022552.5(DNMT3A):c.1243del (p.Gln415fs) DEL Pathogenic
574227 rs1558669964 GRCh37: 2:25469525-25469525
GRCh38: 2:25246656-25246656
8 overlap with 3 genes NC_000002.12:g.(?_25234259)_(25345952_?)del DEL Pathogenic
584232 GRCh37: 2:25457128-25568821
GRCh38: 2:25234259-25345952
9 DNMT3A NM_022552.5(DNMT3A):c.1867del (p.Tyr623fs) DEL Pathogenic
631520 rs1553412022 GRCh37: 2:25466836-25466836
GRCh38: 2:25243967-25243967
10 DNMT3A NM_022552.5(DNMT3A):c.958C>T (p.Arg320Ter) SNV Pathogenic
955045 rs778270132 GRCh37: 2:25470516-25470516
GRCh38: 2:25247647-25247647
11 DNMT3A NM_022552.5(DNMT3A):c.1363A>T (p.Lys455Ter) SNV Pathogenic
970008 rs1674744924 GRCh37: 2:25469095-25469095
GRCh38: 2:25246226-25246226
12 DNMT3A NM_022552.5(DNMT3A):c.1937-2A>G SNV Pathogenic
979198 rs770305758 GRCh37: 2:25464578-25464578
GRCh38: 2:25241709-25241709
13 DNMT3A NM_022552.5(DNMT3A):c.1757G>T (p.Cys586Phe) SNV Pathogenic
1173066 GRCh37: 2:25467118-25467118
GRCh38: 2:25244249-25244249
14 DNMT3A NM_022552.5(DNMT3A):c.1791del (p.Arg598fs) DEL Pathogenic
1342607 GRCh37: 2:25467084-25467084
GRCh38: 2:25244215-25244215
15 DNMT3A NM_022552.5(DNMT3A):c.1555-1G>A SNV Pathogenic
1320067 GRCh37: 2:25467522-25467522
GRCh38: 2:25244653-25244653
16 DNMT3A NM_022552.5(DNMT3A):c.2322+1G>A SNV Pathogenic
1330229 GRCh37: 2:25463170-25463170
GRCh38: 2:25240301-25240301
17 DNMT3A NM_022552.5(DNMT3A):c.735del (p.Ala246fs) DEL Pathogenic
475178 rs1553414406 GRCh37: 2:25471026-25471026
GRCh38: 2:25248157-25248157
18 DNMT3A NM_022552.5(DNMT3A):c.1711dup (p.Ala571fs) DUP Pathogenic
1072186 GRCh37: 2:25467163-25467164
GRCh38: 2:25244294-25244295
19 DNMT3A NM_022552.5(DNMT3A):c.1510del (p.Leu504fs) DEL Pathogenic
541936 rs1553412880 GRCh37: 2:25468166-25468166
GRCh38: 2:25245297-25245297
20 DNMT3A NM_022552.5(DNMT3A):c.1060_1069del (p.Phe354fs) DEL Pathogenic
569775 rs1558671136 GRCh37: 2:25469973-25469982
GRCh38: 2:25247104-25247113
21 DNMT3A NM_022552.5(DNMT3A):c.2385G>A (p.Trp795Ter) SNV Pathogenic
656461 rs1395575712 GRCh37: 2:25462022-25462022
GRCh38: 2:25239153-25239153
22 DNMT3A NM_022552.5(DNMT3A):c.856-10G>A SNV Pathogenic
1070300 GRCh37: 2:25470628-25470628
GRCh38: 2:25247759-25247759
23 DNMT3A NC_000002.11:g.(?_25458556)_(25458714_?)del DEL Pathogenic
1459355 GRCh37: 2:25458556-25458714
GRCh38:
24 DNMT3A NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter) SNV Pathogenic
1070654 GRCh37: 2:25467083-25467083
GRCh38: 2:25244214-25244214
25 DNMT3A NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) SNV Pathogenic
375882 rs377577594 GRCh37: 2:25457243-25457243
GRCh38: 2:25234374-25234374
26 DNMT3A NM_022552.5(DNMT3A):c.1243C>T (p.Gln415Ter) SNV Pathogenic
1699425 GRCh37: 2:25469525-25469525
GRCh38: 2:25246656-25246656
27 DNMT3A NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) SNV Pathogenic
419534 rs779626155 GRCh37: 2:25463182-25463182
GRCh38: 2:25240313-25240313
28 DNMT3A NM_022552.5(DNMT3A):c.1904G>A (p.Arg635Gln) SNV Pathogenic
872724 rs751562376 GRCh37: 2:25466799-25466799
GRCh38: 2:25243930-25243930
29 DNMT3A NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys) SNV Likely Pathogenic
546858 rs367909007 GRCh37: 2:25463541-25463541
GRCh38: 2:25240672-25240672
30 DNMT3A NM_022552.5(DNMT3A):c.2311C>G (p.Arg771Gly) SNV Likely Pathogenic
1709413 GRCh37: 2:25463182-25463182
GRCh38: 2:25240313-25240313
31 DNMT3A NM_022552.5(DNMT3A):c.2678G>A (p.Trp893Ter) SNV Likely Pathogenic
1486678 GRCh37: 2:25457209-25457209
GRCh38: 2:25234340-25234340
32 DNMT3A NM_022552.5(DNMT3A):c.2409-1G>A SNV Likely Pathogenic
1349362 GRCh37: 2:25459875-25459875
GRCh38: 2:25237006-25237006
33 DNMT3A NM_022552.5(DNMT3A):c.905G>C (p.Gly302Ala) SNV Likely Pathogenic
1695907 GRCh37: 2:25470569-25470569
GRCh38: 2:25247700-25247700
34 DNMT3A NM_022552.5(DNMT3A):c.2540_2541del (p.His847fs) DEL Likely Pathogenic
577390 rs1558653090 GRCh37: 2:25458632-25458633
GRCh38: 2:25235763-25235764
35 DNMT3A NM_022552.5(DNMT3A):c.2495C>T (p.Thr832Ile) SNV Likely Pathogenic
648721 rs1573297136 GRCh37: 2:25458678-25458678
GRCh38: 2:25235809-25235809
36 DNMT3A NM_022552.5(DNMT3A):c.1851+3G>C SNV Likely Pathogenic
1199225 GRCh37: 2:25467021-25467021
GRCh38: 2:25244152-25244152
37 DNMT3A NM_022552.5(DNMT3A):c.890G>A (p.Trp297Ter) SNV Likely Pathogenic
1285401 GRCh37: 2:25470584-25470584
GRCh38: 2:25247715-25247715
38 DNMT3A NM_022552.5(DNMT3A):c.855+1G>A SNV Likely Pathogenic
1285593 GRCh37: 2:25470905-25470905
GRCh38: 2:25248036-25248036
39 DNMT3A NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg) SNV Likely Pathogenic
620042 rs771174392 GRCh37: 2:25458648-25458648
GRCh38: 2:25235779-25235779
40 DNMT3A NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu) SNV Likely Pathogenic
620043 rs759380437 GRCh37: 2:25470554-25470554
GRCh38: 2:25247685-25247685
41 DNMT3A NM_022552.5(DNMT3A):c.2086C>T (p.Gln696Ter) SNV Likely Pathogenic
559654 rs750325978 GRCh37: 2:25463596-25463596
GRCh38: 2:25240727-25240727
42 DNMT3A NM_022552.5(DNMT3A):c.1634A>G (p.Glu545Gly) SNV Likely Pathogenic
559889 rs1553412485 GRCh37: 2:25467442-25467442
GRCh38: 2:25244573-25244573
43 DNMT3A NM_022552.5(DNMT3A):c.895A>C (p.Lys299Gln) SNV Likely Pathogenic
266030 rs766858016 GRCh37: 2:25470579-25470579
GRCh38: 2:25247710-25247710
44 DNMT3A NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln) SNV Likely Pathogenic
438287 rs757823678 GRCh37: 2:25463181-25463181
GRCh38: 2:25240312-25240312
45 DNMT3A NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys) SNV Uncertain Significance
392082 rs769419803 GRCh37: 2:25467132-25467132
GRCh38: 2:25244263-25244263
46 DNMT3A NC_000002.12:g.(?_25300139)_(25300243_?)del DEL Uncertain Significance
643714 GRCh37: 2:25523008-25523112
GRCh38: 2:25300139-25300243
47 DNMT3A NM_022552.5(DNMT3A):c.1490G>C (p.Cys497Ser) SNV Uncertain Significance
659100 rs779323387 GRCh37: 2:25468186-25468186
GRCh38: 2:25245317-25245317
48 DNMT3A NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln) SNV Uncertain Significance
828144 rs1573454800 GRCh37: 2:25523048-25523048
GRCh38: 2:25300179-25300179
49 DNMT3A NM_022552.5(DNMT3A):c.446C>T (p.Ala149Val) SNV Uncertain Significance
951362 rs767055283 GRCh37: 2:25505312-25505312
GRCh38: 2:25282443-25282443
50 DNMT3A NM_022552.5(DNMT3A):c.2062C>T (p.Arg688Cys) SNV Uncertain Significance
1213713 GRCh37: 2:25464451-25464451
GRCh38: 2:25241582-25241582

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

73 (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

GO Terms for Tatton-Brown-Rahman Syndrome

Cellular components related to Tatton-Brown-Rahman Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pericentric heterochromatin GO:0005721 9.63 EZH2 DNMT1 ATRX
2 ESC/E(Z) complex GO:0035098 9.43 EZH2 DNMT3L
3 catalytic complex GO:1902494 9.43 DNMT3L DNMT3B DNMT3A
4 heterochromatin GO:0000792 9.17 DNMT3L DNMT3A DNMT1 ATRX

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 10.13 ATRX CHD8 DNMT1 DNMT3A EZH2 NSD1
2 regulation of gene expression GO:0010468 9.91 EZH2 DNMT3L DNMT3B DNMT3A DNMT1 CHD8
3 methylation GO:0032259 9.91 NSD1 EZH2 DNMT3L DNMT3B DNMT3A DNMT1
4 oxidative demethylation GO:0070989 9.84 TET3 TET2
5 regulation of gene expression by genomic imprinting GO:0006349 9.83 DNMT3L DNMT3A
6 DNA methylation-dependent heterochromatin formation GO:0006346 9.8 DNMT3A DNMT1
7 DNA methylation involved in embryo development GO:0043045 9.78 DNMT3A DNMT1
8 cellular response to bisphenol A GO:1903926 9.76 DNMT1 DNMT3A
9 C-5 methylation of cytosine GO:0090116 9.76 DNMT1 DNMT3A DNMT3B DNMT3L
10 5-methylcytosine catabolic process GO:0006211 9.73 TET3 TET2
11 cellular macromolecule metabolic process GO:0044260 9.51 TET3 TET2
12 DNA methylation on cytosine GO:0032776 9.43 DNMT3L DNMT3B DNMT3A DNMT1
13 macromolecule modification GO:0043412 9.4 TET3 TET2
14 DNA methylation GO:0006306 9.4 EZH2 DNMT3L DNMT3B DNMT3A DNMT1 ATRX

Molecular functions related to Tatton-Brown-Rahman Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.19 ATRX CHD8 DNMT1 DNMT3A DNMT3B EZH2
2 chromatin binding GO:0003682 10.11 NSD1 EZH2 DNMT3A DNMT1 CHD8 ATRX
3 transcription corepressor activity GO:0003714 10.01 NSD1 EZH2 DNMT3B DNMT3A
4 methylcytosine dioxygenase activity GO:0070579 9.62 TET3 TET2
5 DNA-methyltransferase activity GO:0009008 9.55 DNMT3B DNMT3A DNMT1
6 methyltransferase activity GO:0008168 9.43 NSD1 EZH2 DNMT3B DNMT3A DNMT1 COMTD1
7 DNA (cytosine-5-)-methyltransferase activity GO:0003886 9.1 DNMT3B DNMT3A DNMT1

Sources for Tatton-Brown-Rahman Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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