RMNS
MCID: RHM034
MIFTS: 34

Rahman Syndrome (RMNS)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Rahman Syndrome

MalaCards integrated aliases for Rahman Syndrome:

Name: Rahman Syndrome 56 52 73 29 6
Rmns 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
highly variable features


HPO:

31
rahman syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Rahman Syndrome

NIH Rare Diseases : 52 Rahman syndrome is a genetic syndrome that includes mild to severe intellectual disability and an increase in height, weight, or head size (overgrowth). The overgrowth is more apparent in infancy and may lessen with time. Other symptoms may include curved fingers, eyes that may not line up in the same direction (strabismus ), and facial features such as full cheeks and an increase in the distance between the eyes. The syndrome is caused by changes (mutations ) in the HIST1H1E gene . The protein made from the HISTH1E gene helps control which genetic information is turned on (expressed) at any given time. Only one copy of the HIST1H1E gene needs to have a disease-causing genetic change to have Rahman syndrome, which is consistent with an autosomal dominant condition. However, most of the reported cases of Rahman syndrome have not been inherited from the parents, but have been caused by a genetic change that happens by mistake during the making of the egg or sperm (de novo ). Rahman syndrome may be suspected by symptoms, but the diagnosis is confirmed by genetic testing . Rahman syndrome is one of a group of disorders that have been associated with overgrowth and intellectual disability.

MalaCards based summary : Rahman Syndrome, also known as rmns, is related to tatton-brown-rahman syndrome and dnmt3a overgrowth syndrome. An important gene associated with Rahman Syndrome is H1-4 (H1.4 Linker Histone, Cluster Member), and among its related pathways/superpathways is Chromatin Regulation / Acetylation. Affiliated tissues include eye, testes and bone, and related phenotypes are intellectual disability and global developmental delay

OMIM : 56 Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017). (617537)

UniProtKB/Swiss-Prot : 73 Rahman syndrome: An autosomal dominant syndrome characterized by intellectual disability and overgrowth manifesting as increased birth length, height, weight, and/or head circumference.

Related Diseases for Rahman Syndrome

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



Diseases related to Rahman Syndrome

Symptoms & Phenotypes for Rahman Syndrome

Human phenotypes related to Rahman Syndrome:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 macrocephaly 31 HP:0000256
4 neonatal hypotonia 31 HP:0001319
5 hypertonia 31 HP:0001276
6 full cheeks 31 HP:0000293
7 strabismus 31 HP:0000486
8 nevus 31 HP:0003764
9 talipes equinovarus 31 HP:0001762
10 kyphoscoliosis 31 HP:0002751
11 amblyopia 31 HP:0000646
12 telecanthus 31 HP:0000506
13 accelerated skeletal maturation 31 HP:0005616
14 astigmatism 31 HP:0000483
15 camptodactyly 31 HP:0012385

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
full cheeks

Skeletal Feet:
talipes equinovarus

Skeletal Hands:
camptodactyly

Growth Weight:
increased birth weight
increased weight

Skin Nails Hair Skin:
nevi

Neurologic Central Nervous System:
delayed development
intellectual disability, mild to severe

Abdomen Gastrointestinal:
poor feeding in the neonatal period

Head And Neck Eyes:
strabismus
amblyopia
telecanthus
astigmatism

Skeletal Spine:
kyphoscoliosis

Skeletal:
advanced bone age

Growth Height:
increased height
increased birth length

Muscle Soft Tissue:
hypotonia, neonatal
hypertonia, neonatal

Head And Neck Head:
large head circumference

Clinical features from OMIM:

617537

Drugs & Therapeutics for Rahman Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Asia Coma Electrical Stimulation Trial: an Asian Multicenter Randomized Controlled Trial to Assess the Efficacy and Safety of Right Median Nerve Stimulation for Traumatic Coma Unknown status NCT02645578 Phase 3

Search NIH Clinical Center for Rahman Syndrome

Genetic Tests for Rahman Syndrome

Genetic tests related to Rahman Syndrome:

# Genetic test Affiliating Genes
1 Rahman Syndrome 29 H1-4

Anatomical Context for Rahman Syndrome

MalaCards organs/tissues related to Rahman Syndrome:

40
Eye, Testes, Bone, Tongue, Myeloid, Thalamus

Publications for Rahman Syndrome

Articles related to Rahman Syndrome:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 6 56
28475857 2017
2
GABA and glycine neurons from the ventral medullary region inhibit hypoglossal motoneurons. 61
31832664 2020
3
The role of active manganese species and free radicals in permanganate/bisulfite process. 61
31812477 2020
4
Tatton-Brown-Rahman syndrome: Six individuals with novel features. 61
31961069 2020
5
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. 61
31685998 2020
6
Acromegaly in the setting of Tatton-Brown-Rahman Syndrome. 61
31858400 2020
7
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature. 61
31910894 2020
8
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder. 61
32435502 2020
9
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln). 61
31905446 2019
10
Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes. 61
31845314 2019
11
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
31400068 2019
12
The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape. 61
31485078 2019
13
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging. 61
31160375 2019
14
The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome. 61
31066180 2019
15
Polymer ligand-assisted fabrication of multifunctional and redox-responsive self-assembled magnetic nanoclusters for bimodal imaging and cancer treatment. 61
32254966 2018
16
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
17
Growth pattern of Rahman syndrome. 61
29383847 2018
18
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. 61
29900417 2018
19
A Simple α-Ketoglutarate Electrochemical Biosensor Based on Reduced MoS₂ Nanoparticle-Gold Nanoparticle Nanocomposite. 61
29768883 2018
20
Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. 61
28432085 2017
21
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 61
28941052 2017
22
Right median nerve electrical stimulation for acute traumatic coma (the Asia Coma Electrical Stimulation trial): study protocol for a randomised controlled trial. 61
28693604 2017
23
A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome. 61
28449304 2017
24
Multifunctional and Redox-Responsive Self-Assembled Magnetic Nanovectors for Protein Delivery and Dual-Modal Imaging. 61
28524656 2017
25
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 61
27701732 2017
26
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. 61
26866722 2016
27
Right Median Nerve Electrical Stimulation for Acute Traumatic Coma Patients. 61
25664378 2015
28
Mu-wave Activity in Schizophrenia: Evidence of a Dysfunctional Mirror Neuron System from an Indian Study. 61
25035551 2014
29
Effects of different musical stimuli in vital signs and facial expressions in patients with cerebral damage: a pilot study. 61
24556659 2014
30
Non-Fluoroscopic Transseptal Catheterization During Electrophysiology Procedures using a Remote Magnetic Navigation System. 61
28496914 2013
31
Comparison of generated parallel capillary arrays to three-dimensional reconstructed capillary networks in modeling oxygen transport in discrete microvascular volumes. 61
23841679 2013
32
Resistance to changing practice from pro re nata prescriptions to patient group directions in acute mental health settings. 61
22957970 2013
33
Current status of homogeneity and stability of the reference materials for nutrients in seawater. 61
22975921 2012
34
Remote magnetic navigation system provides a superior catheter stability in acquisition of His bundle electrogram. 61
18357516 2008
35
Recent comparability of oceanographic nutrients data: results of a 2003 intercomparison exercise using reference materials. 61
17878595 2007
36
An examination of the scope and purpose of education in mental health nursing. 61
17067725 2007
37
Estimating the effects of right median nerve stimulation on memory in Alzheimer's disease: a randomized controlled pilot study. 61
17364906 2007
38
RMNs still await rules on restraint. 61
16350508 2005
39
Constant or special observations of inpatients presenting a risk of aggression or violence: nurses' perceptions of the rules of engagement. 61
16011502 2005
40
Electrical treatment of reduced consciousness: experience with coma and Alzheimer's disease. 61
16350980 2005
41
Electrical treatment of coma via the median nerve. 61
14518514 2003
42
The commonality and synchronicity of mental health nurses and palliative care nurses: closer than you think? Part one. 61
11879494 2001
43
A comparison of pre-Project 2000 and Project 2000 nurses' perceptions of their research training, research needs and of their use of research in clinical areas. 61
10064304 1999
44
Getting started: choice and constraint in obtaining a post after qualifying as a registered mental nurse. 61
9661396 1998
45
"It's just like somebody's turned on a light": an NVQ (National Vocational Qualification) success story from the voluntary sector. 61
10346295 1998
46
Discontent without focus? An analysis of nurse management and activity on a psychiatric in-patient facility using a 'soft systems' approach. 61
7714278 1995
47
The impact of target size on the level of the energy metabolism of spinal motoneurons. An enzyme histochemical and morphological study. 61
8217468 1993
48
Tradimus. Mental health nursing: RMNs need counselling. 61
1760279 1991
49
RMNs have a part to play. 61
1876297 1991
50
Tongue-muscle-controlling motoneurons in the Japanese toad: neural inputs from the thalamus. 61
2706465 1989

Variations for Rahman Syndrome

ClinVar genetic disease variations for Rahman Syndrome:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 H1-4 NM_005321.3(H1-4):c.414dup (p.Lys139fs)duplication Pathogenic 635257 6:26157029-26157030 6:26156801-26156802
2 H1-4 NM_005321.3(H1-4):c.425delinsAG (p.Thr142fs)indel Pathogenic 635259 6:26157043-26157043 6:26156815-26156815
3 H1-4 NM_005321.2(H1-4):c.425_431delinsAGGGGGTT (p.Thr142fs)indel Pathogenic 635258 6:26157043-26157049 6:26156815-26156821
4 H1-4 NM_005321.3(H1-4):c.447dup (p.Ser150fs)duplication Pathogenic 635260 6:26157064-26157065 6:26156836-26156837
5 H1-4 NM_005321.3(H1-4):c.464dup (p.Lys157fs)duplication Pathogenic 635261 6:26157078-26157079 6:26156850-26156851
6 H1-4 NM_005321.2(H1-4):c.441dup (p.Lys148fs)duplication Pathogenic 428606 rs1131690806 6:26157054-26157055 6:26156826-26156827
7 H1-4 NM_005321.2(H1-4):c.436_458del (p.Thr146fs)deletion Pathogenic 428607 rs1131690807 6:26157054-26157076 6:26156826-26156848
8 H1-4 NM_005321.3(H1-4):c.429_430del (p.Ala144fs)deletion Pathogenic 801359 6:26157044-26157045 6:26156816-26156817
9 H1-4 NM_005321.2(H1-4):c.430dup (p.Ala144fs)duplication Pathogenic/Likely pathogenic 428605 rs1131690805 6:26157043-26157044 6:26156815-26156816
10 H1-4 NM_005321.3(H1-4):c.408dup (p.Lys137fs)duplication Pathogenic/Likely pathogenic 635256 6:26157025-26157026 6:26156797-26156798
11 H1-4 NM_005321.3(H1-4):c.364_365del (p.Lys122fs)deletion Uncertain significance 801358 6:26156979-26156980 6:26156751-26156752

Expression for Rahman Syndrome

Search GEO for disease gene expression data for Rahman Syndrome.

Pathways for Rahman Syndrome

Pathways related to Rahman Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.03 H1-4 DNMT3A

GO Terms for Rahman Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nuclear heterochromatin GO:0005720 8.62 H1-4 DNMT3A

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 8.62 H1-4 DNMT3A

Sources for Rahman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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