RMNS
MCID: RHM034
MIFTS: 29

Rahman Syndrome (RMNS)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Rahman Syndrome

MalaCards integrated aliases for Rahman Syndrome:

Name: Rahman Syndrome 57 53 74 6
Rmns 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
highly variable features


HPO:

32
rahman syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617537

Summaries for Rahman Syndrome

NIH Rare Diseases : 53 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). Affiliated tissues include testes, eye and bone, and related phenotypes are macrocephaly and intellectual disability

OMIM : 57 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 : 74 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

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 tatton-brown-rahman syndrome 12.8
2 dnmt3a overgrowth syndrome 11.7
3 alacrima, achalasia, and mental retardation syndrome 10.4
4 overgrowth syndrome 10.4
5 bile acid malabsorption, primary 10.2
6 dementia 10.2
7 disease of mental health 10.2
8 subacute delirium 10.2
9 sotos syndrome 1 10.0
10 medulloblastoma 10.0
11 leukemia, acute myeloid 10.0
12 myeloid leukemia 10.0
13 ezh2-related overgrowth 10.0
14 hypermobile ehlers-danlos syndrome 10.0
15 hypotonia 10.0

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:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 intellectual disability 32 HP:0001249
3 global developmental delay 32 HP:0001263
4 neonatal hypotonia 32 HP:0001319
5 hypertonia 32 HP:0001276
6 full cheeks 32 HP:0000293
7 strabismus 32 HP:0000486
8 nevus 32 HP:0003764
9 talipes equinovarus 32 HP:0001762
10 kyphoscoliosis 32 HP:0002751
11 telecanthus 32 HP:0000506
12 amblyopia 32 HP:0000646
13 accelerated skeletal maturation 32 HP:0005616
14 astigmatism 32 HP:0000483
15 camptodactyly 32 HP:0012385

Symptoms via clinical synopsis from OMIM:

57
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
telecanthus
amblyopia
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

Anatomical Context for Rahman Syndrome

MalaCards organs/tissues related to Rahman Syndrome:

41
Testes, Eye, Bone, Tongue, Myeloid, Thalamus

Publications for Rahman Syndrome

Articles related to Rahman Syndrome:

(show all 43)
# Title Authors PMID Year
1
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 8 71
28475857 2017
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. 38
31400068 2019
3
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging. 38
31160375 2019
4
The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome. 38
31066180 2019
5
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? 38
29802153 2018
6
Growth pattern of Rahman syndrome. 38
29383847 2018
7
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. 38
29900417 2018
8
A Simple α-Ketoglutarate Electrochemical Biosensor Based on Reduced MoS₂ Nanoparticle-Gold Nanoparticle Nanocomposite. 38
29768883 2018
9
Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. 38
28432085 2017
10
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 38
28941052 2017
11
Right median nerve electrical stimulation for acute traumatic coma (the Asia Coma Electrical Stimulation trial): study protocol for a randomised controlled trial. 38
28693604 2017
12
A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome. 38
28449304 2017
13
Multifunctional and Redox-Responsive Self-Assembled Magnetic Nanovectors for Protein Delivery and Dual-Modal Imaging. 38
28524656 2017
14
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 38
27701732 2017
15
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. 38
26866722 2016
16
Right Median Nerve Electrical Stimulation for Acute Traumatic Coma Patients. 38
25664378 2015
17
Mu-wave Activity in Schizophrenia: Evidence of a Dysfunctional Mirror Neuron System from an Indian Study. 38
25035551 2014
18
Effects of different musical stimuli in vital signs and facial expressions in patients with cerebral damage: a pilot study. 38
24556659 2014
19
Non-Fluoroscopic Transseptal Catheterization During Electrophysiology Procedures using a Remote Magnetic Navigation System. 38
28496914 2013
20
Comparison of generated parallel capillary arrays to three-dimensional reconstructed capillary networks in modeling oxygen transport in discrete microvascular volumes. 38
23841679 2013
21
Resistance to changing practice from pro re nata prescriptions to patient group directions in acute mental health settings. 38
22957970 2013
22
Current status of homogeneity and stability of the reference materials for nutrients in seawater. 38
22975921 2012
23
Remote magnetic navigation system provides a superior catheter stability in acquisition of His bundle electrogram. 38
18357516 2008
24
Recent comparability of oceanographic nutrients data: results of a 2003 intercomparison exercise using reference materials. 38
17878595 2007
25
An examination of the scope and purpose of education in mental health nursing. 38
17067725 2007
26
Estimating the effects of right median nerve stimulation on memory in Alzheimer's disease: a randomized controlled pilot study. 38
17364906 2007
27
RMNs still await rules on restraint. 38
16350508 2005
28
Constant or special observations of inpatients presenting a risk of aggression or violence: nurses' perceptions of the rules of engagement. 38
16011502 2005
29
Electrical treatment of reduced consciousness: experience with coma and Alzheimer's disease. 38
16350980 2005
30
Electrical treatment of coma via the median nerve. 38
14518514 2003
31
The commonality and synchronicity of mental health nurses and palliative care nurses: closer than you think? Part one. 38
11879494 2001
32
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. 38
10064304 1999
33
Getting started: choice and constraint in obtaining a post after qualifying as a registered mental nurse. 38
9661396 1998
34
"It's just like somebody's turned on a light": an NVQ (National Vocational Qualification) success story from the voluntary sector. 38
10346295 1998
35
Discontent without focus? An analysis of nurse management and activity on a psychiatric in-patient facility using a 'soft systems' approach. 38
7714278 1995
36
The impact of target size on the level of the energy metabolism of spinal motoneurons. An enzyme histochemical and morphological study. 38
8217468 1993
37
Tradimus. Mental health nursing: RMNs need counselling. 38
1760279 1991
38
RMNs have a part to play. 38
1876297 1991
39
Tongue-muscle-controlling motoneurons in the Japanese toad: neural inputs from the thalamus. 38
2706465 1989
40
Neuronal pathways for the lingual reflex in the Japanese toad. 38
3244127 1988
41
Watchdog. 38
27416430 1988
42
[Superoxide production of polymorphonuclear leukocytes in malnourished patients with cancer of the digestive organs]. 38
3012313 1986
43
Tongue-muscle-controlling motoneurons in the Japanese toad: topography, morphology and neuronal pathways from the 'snapping-evoking area' in the optic tectum. 38
3837110 1985

Variations for Rahman Syndrome

ClinVar genetic disease variations for Rahman Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 H1-4 NM_005321.2(H1-4): c.441dupC duplication Pathogenic rs1131690806 6:26157059-26157059 6:26156831-26156831
2 H1-4 NM_005321.2(H1-4): c.436_458del (p.Thr146fs) deletion Pathogenic rs1131690807 6:26157054-26157076 6:26156826-26156848
3 H1-4 NM_005321.2(H1-4): c.430dupG duplication Pathogenic/Likely pathogenic rs1131690805 6:26157048-26157048 6:26156820-26156820

Expression for Rahman Syndrome

Search GEO for disease gene expression data for Rahman Syndrome.

Pathways for Rahman Syndrome

GO Terms for Rahman Syndrome

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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