Aliases & Classifications for Rahman Syndrome

MalaCards integrated aliases for Rahman Syndrome:

Name: Rahman Syndrome 57 53 75 6
Rmns 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
highly variable features


HPO:

32
rahman syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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 HIST1H1E (Histone Cluster 1 H1 Family Member E), and among its related pathways/superpathways is Chromatin Regulation / Acetylation. Affiliated tissues include eye, testes and bone, and related phenotypes are macrocephaly and full cheeks

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 : 75 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 12.4
2 dnmt3a overgrowth syndrome 11.4

Symptoms & Phenotypes for Rahman Syndrome

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

Human phenotypes related to Rahman Syndrome:

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

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:

41
Eye, Testes, Bone, Myeloid

Publications for Rahman Syndrome

Articles related to Rahman Syndrome:

# Title Authors Year
1
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants. ( 29900417 )
2018
2
Growth pattern of Rahman syndrome. ( 29383847 )
2018
3
Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. ( 28432085 )
2017
4
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. ( 28941052 )
2017
5
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. ( 27701732 )
2016
6
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. ( 26866722 )
2016

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_458del23 (p.Thr146Aspfs) deletion Pathogenic rs1131690807 GRCh37 Chromosome 6, 26157054: 26157076
6 HIST1H1E NM_005321.2(HIST1H1E): c.436_458del23 (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

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

# Super pathways Score Top Affiliating Genes
1 11.03 DNMT3A HIST1H1E

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 DNMT3A HIST1H1E

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 DNMT3A HIST1H1E

Sources for Rahman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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