MCID: RSS027
MIFTS: 19

Russell-Silver Syndrome, X-Linked

Categories: Mental diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Russell-Silver Syndrome, X-Linked

MalaCards integrated aliases for Russell-Silver Syndrome, X-Linked:

Name: Russell-Silver Syndrome, X-Linked 56 71
Russell-Silver-Like Syndrome with Skin Pigmentation 56
Partington X-Linked Mental Retardation Syndrome 71
Partington Syndrome 56

Characteristics:

OMIM:

56
Inheritance:
x-linked, severe in males and mild in females


HPO:

31
russell-silver syndrome, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 56 312780
MedGen 41 C0220775
UMLS 71 C0220775 C0796250

Summaries for Russell-Silver Syndrome, X-Linked

MalaCards based summary : Russell-Silver Syndrome, X-Linked, also known as russell-silver-like syndrome with skin pigmentation, is related to partington x-linked mental retardation syndrome and mental retardation, x-linked, with or without seizures, arx-related, and has symptoms including seizures and ataxia. Affiliated tissues include skin, brain and pancreas, and related phenotypes are intrauterine growth retardation and triangular face

More information from OMIM: 312780

Related Diseases for Russell-Silver Syndrome, X-Linked

Diseases related to Russell-Silver Syndrome, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 partington x-linked mental retardation syndrome 11.9
2 mental retardation, x-linked, with or without seizures, arx-related 11.6
3 x-linked lissencephaly with abnormal genitalia 11.2
4 epileptic encephalopathy, early infantile, 1 10.3
5 non-syndromic x-linked intellectual disability 10.3
6 ataxia and polyneuropathy, adult-onset 10.1
7 dystonia 10.1
8 spasticity 10.1

Graphical network of the top 20 diseases related to Russell-Silver Syndrome, X-Linked:



Diseases related to Russell-Silver Syndrome, X-Linked

Symptoms & Phenotypes for Russell-Silver Syndrome, X-Linked

Human phenotypes related to Russell-Silver Syndrome, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 31 HP:0001511
2 triangular face 31 HP:0000325
3 cafe-au-lait spot 31 HP:0000957

Symptoms via clinical synopsis from OMIM:

56
Growth:
prenatal growth retardation

Facies:
triangular facies

Skin:
cafe-au-lait spots
achromatic skin areas of trunk and limbs

Clinical features from OMIM:

312780

UMLS symptoms related to Russell-Silver Syndrome, X-Linked:


seizures, ataxia

Drugs & Therapeutics for Russell-Silver Syndrome, X-Linked

Search Clinical Trials , NIH Clinical Center for Russell-Silver Syndrome, X-Linked

Genetic Tests for Russell-Silver Syndrome, X-Linked

Anatomical Context for Russell-Silver Syndrome, X-Linked

MalaCards organs/tissues related to Russell-Silver Syndrome, X-Linked:

40
Skin, Brain, Pancreas

Publications for Russell-Silver Syndrome, X-Linked

Articles related to Russell-Silver Syndrome, X-Linked:

(show all 22)
# Title Authors PMID Year
1
X-linked short stature with skin pigmentation: evidence for heterogeneity of the Russell-Silver syndrome. 56
3955866 1986
2
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. 61
30088852 2018
3
Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype. 61
24727054 2014
4
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia. 61
24528893 2014
5
X-linked mental deficiency. 61
23622180 2013
6
Mutational screening of ARX gene in Iranian families with X-linked intellectual disability. 61
22642246 2012
7
Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations. 61
22252899 2012
8
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms. 61
21204226 2011
9
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. 61
21204215 2011
10
Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation. 61
20538404 2010
11
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. 61
19507262 2009
12
[ARX--one gene--many phenotypes]. 61
18975239 2008
13
Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand. 61
17613295 2007
14
A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. 61
17641262 2007
15
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. 61
16235064 2006
16
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. 61
14992814 2004
17
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. 61
14631200 2003
18
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. 61
12376946 2002
19
Clinical study and haplotype analysis in two brothers with Partington syndrome. 61
12376938 2002
20
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. 61
12376949 2002
21
Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). 61
8826457 1996
22
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22. 61
7943043 1994

Variations for Russell-Silver Syndrome, X-Linked

Expression for Russell-Silver Syndrome, X-Linked

Search GEO for disease gene expression data for Russell-Silver Syndrome, X-Linked.

Pathways for Russell-Silver Syndrome, X-Linked

GO Terms for Russell-Silver Syndrome, X-Linked

Sources for Russell-Silver Syndrome, X-Linked

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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