RMNS
MCID: RHM034
MIFTS: 31

Rahman Syndrome (RMNS)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Rahman Syndrome

MalaCards integrated aliases for Rahman Syndrome:

Name: Rahman Syndrome 58 54 76 6
Rmns 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
highly variable features


HPO:

33
rahman syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Rahman Syndrome

NIH Rare Diseases : 54 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 HIST1H1E (Histone Cluster 1 H1 Family Member E), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. Affiliated tissues include testes, eye and bone, and related phenotypes are macrocephaly and intellectual disability

OMIM : 58 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 : 76 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:

# Related Disease Score Top Affiliating Genes
1 tatton-brown-rahman syndrome 12.6
2 dnmt3a overgrowth syndrome 11.6
3 disease of mental health 10.1
4 medulloblastoma 10.0
5 leukemia, acute myeloid 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:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 intellectual disability 33 HP:0001249
3 global developmental delay 33 HP:0001263
4 neonatal hypotonia 33 HP:0001319
5 hypertonia 33 HP:0001276
6 full cheeks 33 HP:0000293
7 strabismus 33 HP:0000486
8 nevus 33 HP:0003764
9 talipes equinovarus 33 HP:0001762
10 kyphoscoliosis 33 HP:0002751
11 telecanthus 33 HP:0000506
12 amblyopia 33 HP:0000646
13 accelerated skeletal maturation 33 HP:0005616
14 astigmatism 33 HP:0000483
15 camptodactyly 33 HP:0012385

Symptoms via clinical synopsis from OMIM:

58
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

Search Clinical Trials , NIH Clinical Center for Rahman Syndrome

Genetic Tests for Rahman Syndrome

Anatomical Context for Rahman Syndrome

MalaCards organs/tissues related to Rahman Syndrome:

42
Testes, Eye, Bone, Myeloid

Publications for Rahman Syndrome

Articles related to Rahman Syndrome:

(show all 11)
# Title Authors Year
1
The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome. ( 31066180 )
2019
2
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. ( 29900417 )
2018
3
Growth pattern of Rahman syndrome. ( 29383847 )
2018
4
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. ( 27701732 )
2017
5
Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. ( 28432085 )
2017
6
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. ( 28941052 )
2017
7
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. ( 28475857 )
2017
8
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. ( 26866722 )
2016
9
RMNs still await rules on restraint. ( 16350508 )
2005
10
Tradimus. Mental health nursing: RMNs need counselling. ( 1760279 )
1991
11
RMNs have a part to play. ( 1876297 )
1991

Variations for Rahman Syndrome

ClinVar genetic disease variations for Rahman Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HIST1H1E NM_005321.2(HIST1H1E): c.430dup (p.Ala144Glyfs) duplication Pathogenic/Likely pathogenic rs1131690805 GRCh38 Chromosome 6, 26156820: 26156820
2 HIST1H1E NM_005321.2(HIST1H1E): c.430dup (p.Ala144Glyfs) duplication Pathogenic/Likely pathogenic rs1131690805 GRCh37 Chromosome 6, 26157048: 26157048
3 HIST1H1E NM_005321.2(HIST1H1E): c.441dup (p.Lys148Glnfs) duplication Pathogenic rs1131690806 GRCh38 Chromosome 6, 26156831: 26156831
4 HIST1H1E NM_005321.2(HIST1H1E): c.441dup (p.Lys148Glnfs) duplication Pathogenic rs1131690806 GRCh37 Chromosome 6, 26157059: 26157059
5 HIST1H1E NM_005321.2(HIST1H1E): c.436_458del (p.Thr146Aspfs) deletion Pathogenic rs1131690807 GRCh37 Chromosome 6, 26157054: 26157076
6 HIST1H1E NM_005321.2(HIST1H1E): c.436_458del (p.Thr146Aspfs) deletion Pathogenic rs1131690807 GRCh38 Chromosome 6, 26156826: 26156848

Expression for Rahman Syndrome

Search GEO for disease gene expression data for Rahman Syndrome.

Pathways for Rahman Syndrome

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 chromosome GO:0005694 9.16 HIST1H1E HIST1H2BD
2 nucleosome GO:0000786 8.96 HIST1H1E HIST1H2BD
3 nuclear heterochromatin GO:0005720 8.62 DNMT3A HIST1H1E

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

# Name GO ID Score Top Affiliating Genes
1 nucleosome assembly GO:0006334 8.62 HIST1H1E HIST1H2BD

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 8.8 DNMT3A HIST1H1E HIST1H2BD

Sources for Rahman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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