MCID: HST024
MIFTS: 11

Hist1h1e Syndrome

Aliases & Classifications for Hist1h1e Syndrome

MalaCards integrated aliases for Hist1h1e Syndrome:

Name: Hist1h1e Syndrome 25
Rahman Syndrome 25

Characteristics:

GeneReviews:

25
Penetrance Data are currently insufficient to determine the penetrance of h1-4 germline pathogenic variants

Summaries for Hist1h1e Syndrome

MalaCards based summary : Hist1h1e Syndrome, also known as rahman syndrome, is related to tatton-brown-rahman syndrome and dnmt3a overgrowth syndrome. An important gene associated with Hist1h1e Syndrome is H1-4 (H1.4 Linker Histone, Cluster Member). Affiliated tissues include myeloid.

GeneReviews: NBK564966

Related Diseases for Hist1h1e Syndrome

Graphical network of the top 20 diseases related to Hist1h1e Syndrome:



Diseases related to Hist1h1e Syndrome

Symptoms & Phenotypes for Hist1h1e Syndrome

Drugs & Therapeutics for Hist1h1e Syndrome

Search Clinical Trials , NIH Clinical Center for Hist1h1e Syndrome

Genetic Tests for Hist1h1e Syndrome

Anatomical Context for Hist1h1e Syndrome

MalaCards organs/tissues related to Hist1h1e Syndrome:

40
Myeloid

Publications for Hist1h1e Syndrome

Articles related to Hist1h1e Syndrome:

(show all 35)
# Title Authors PMID Year
1
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature. 61 25
31910894 2020
2
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. 61 25
31400068 2019
3
Growth pattern of Rahman syndrome. 25 61
29383847 2018
4
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. 25
31447100 2019
5
Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma. 25
30802265 2019
6
Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review. 25
29704315 2018
7
Identification of Somatic Mutations in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type by Massive Parallel Sequencing. 25
28479318 2017
8
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 25
28475857 2017
9
Timing, rates and spectra of human germline mutation. 25
26656846 2016
10
Mutational Spectrum, Copy Number Changes, and Outcome: Results of a Sequencing Study of Patients With Newly Diagnosed Myeloma. 25
26282654 2015
11
Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing. 25
25081361 2015
12
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. 25
25741868 2015
13
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 25
24614070 2014
14
Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. 25
22343534 2012
15
A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature. 61
33086257 2021
16
HIST1H1E Syndrome 61
33270410 2020
17
Behavioral and dental management of a patient with Tatton-Brown-Rahman syndrome: Case report. 61
32815590 2020
18
[Tatton-Brown-Rahman syndrome associated with the DNMT3A gene: a case report and literature review]. 61
33059810 2020
19
Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes. 61
31845314 2020
20
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder. 61
33419997 2020
21
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. 61
31685998 2020
22
Acromegaly in the setting of Tatton-Brown-Rahman Syndrome. 61
31858400 2020
23
Tatton-Brown-Rahman syndrome: Six individuals with novel features. 61
31961069 2020
24
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder. 61
32435502 2020
25
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln). 61
31905446 2019
26
The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape. 61
31485078 2019
27
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging. 61
31160375 2019
28
The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome. 61
31066180 2019
29
Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect? 61
29802153 2018
30
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. 61
29900417 2018
31
Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. 61
28432085 2017
32
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 61
28941052 2017
33
A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome. 61
28449304 2017
34
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 61
27701732 2017
35
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. 61
26866722 2016

Variations for Hist1h1e Syndrome

Expression for Hist1h1e Syndrome

Search GEO for disease gene expression data for Hist1h1e Syndrome.

Pathways for Hist1h1e Syndrome

GO Terms for Hist1h1e Syndrome

Sources for Hist1h1e 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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