PRTS
MCID: PRT052
MIFTS: 43

Partington X-Linked Mental Retardation Syndrome (PRTS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Partington X-Linked Mental Retardation Syndrome

MalaCards integrated aliases for Partington X-Linked Mental Retardation Syndrome:

Name: Partington X-Linked Mental Retardation Syndrome 58 54 26 30 6 74
Partington Syndrome 58 12 54 26 60 76 38 13 15
Prts 58 54 26 76
Mrxs1 58 54 76
Russell-Silver Syndrome, X-Linked 45 74
Partington-Mulley Syndrome 26 60
Mrx36 58 26
Intellectual Disability, X-Linked, with Dystonic Movements, Ataxia, and Seizures 54
Mental Retardation, X-Linked, with Dystonic Movements, Ataxia, and Seizures 58
X-Linked Mental Retardation with Dystonic Movements, Ataxia, and Seizures 26
Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome 54
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome 60
X-Linked Intellectual Deficit-Dystonia-Dysarthria 26
Mental Retardation, X-Linked, Syndromic 1; Mrxs1 58
Intellectual Disability, X-Linked, Syndromic 1 54
Mental Retardation, X-Linked, Syndromic 1 58
X-Linked Syndromic Mental Retardation 1 76
Mental Retardation, X-Linked 36; Mrx36 58
X-Linked Russell-Silver Syndrome 12
Mental Retardation, X-Linked 36 58

Characteristics:

Orphanet epidemiological data:

60
partington syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
partington x-linked mental retardation syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Partington X-Linked Mental Retardation Syndrome

OMIM : 58 Partington syndrome is an X-linked developmental disorder characterized by mental retardation and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to nonsyndromic mental retardation (300419). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008). (309510)

MalaCards based summary : Partington X-Linked Mental Retardation Syndrome, also known as partington syndrome, is related to russell-silver syndrome, x-linked and lesch-nyhan syndrome, and has symptoms including seizures and ataxia. An important gene associated with Partington X-Linked Mental Retardation Syndrome is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Neuroscience and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include brain, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.

Genetics Home Reference : 26 Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that particularly affects movement of the hands. Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.

NIH Rare Diseases : 54 Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.

UniProtKB/Swiss-Prot : 76 Partington syndrome: Characterized by mental retardation, episodic dystonic hand movements, and dysarthria.

Related Diseases for Partington X-Linked Mental Retardation Syndrome

Graphical network of the top 20 diseases related to Partington X-Linked Mental Retardation Syndrome:



Diseases related to Partington X-Linked Mental Retardation Syndrome

Symptoms & Phenotypes for Partington X-Linked Mental Retardation Syndrome

Human phenotypes related to Partington X-Linked Mental Retardation Syndrome:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 dysarthria 33 HP:0001260
4 eeg abnormality 33 HP:0002353
5 delayed speech and language development 33 HP:0000750
6 flexion contracture 33 HP:0001371
7 triangular face 33 HP:0000325
8 lower limb spasticity 33 HP:0002061
9 focal dystonia 33 HP:0004373
10 limb dystonia 33 HP:0002451

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
dysarthria
lower limb spasticity
mental retardation
speech delay
more
Head And Neck Face:
long, triangular face

Skeletal:
joint contractures

Clinical features from OMIM:

309510

UMLS symptoms related to Partington X-Linked Mental Retardation Syndrome:


seizures, ataxia

MGI Mouse Phenotypes related to Partington X-Linked Mental Retardation Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 ARX ASCL1 DLG3 GHRL MECP2 OPHN1
2 nervous system MP:0003631 9.36 ARX ASCL1 DLG3 IL1RAPL1 MECP2 NKX2-2

Drugs & Therapeutics for Partington X-Linked Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Partington X-Linked Mental Retardation Syndrome

Cochrane evidence based reviews: russell-silver syndrome, x-linked

Genetic Tests for Partington X-Linked Mental Retardation Syndrome

Genetic tests related to Partington X-Linked Mental Retardation Syndrome:

# Genetic test Affiliating Genes
1 Partington X-Linked Mental Retardation Syndrome 30 ARX

Anatomical Context for Partington X-Linked Mental Retardation Syndrome

MalaCards organs/tissues related to Partington X-Linked Mental Retardation Syndrome:

42
Brain

Publications for Partington X-Linked Mental Retardation Syndrome

Articles related to Partington X-Linked Mental Retardation Syndrome:

(show all 19)
# Title Authors Year
1
Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype. ( 24727054 )
2014
2
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. ( 17480217 )
2007
3
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. ( 15850492 )
2005
4
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation. ( 16078051 )
2005
5
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. ( 15151512 )
2004
6
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. ( 15200506 )
2004
7
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX. ( 12640086 )
2003
8
Clinical study and haplotype analysis in two brothers with Partington syndrome. ( 12376938 )
2002
9
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. ( 12376949 )
2002
10
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. ( 11971879 )
2002
11
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. ( 11889467 )
2002
12
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. ( 12376946 )
2002
13
Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. ( 12116222 )
2002
14
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. ( 10353782 )
1999
15
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. ( 10398246 )
1999
16
Linkage analysis in three families with nonspecific X-linked mental retardation. ( 8826464 )
1996
17
Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment. ( 2080994 )
1990
18
X-linked mental retardation with dystonic movements of the hands. ( 3177452 )
1988
19
A morphological classification of sincipital encephalomeningoceles. ( 5008734 )
1972

Variations for Partington X-Linked Mental Retardation Syndrome

ClinVar genetic disease variations for Partington X-Linked Mental Retardation Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARX NM_139058.2(ARX) duplication Conflicting interpretations of pathogenicity rs387906493 GRCh37 Chromosome X, 25031661: 25031684
2 ARX NM_139058.2(ARX) duplication Conflicting interpretations of pathogenicity rs387906493 GRCh38 Chromosome X, 25013544: 25013567
3 ARX NM_139058.2(ARX): c.1170C> T (p.Gly390=) single nucleotide variant Conflicting interpretations of pathogenicity rs761632870 GRCh37 Chromosome X, 25025506: 25025506
4 ARX NM_139058.2(ARX): c.1170C> T (p.Gly390=) single nucleotide variant Conflicting interpretations of pathogenicity rs761632870 GRCh38 Chromosome X, 25007389: 25007389
5 ARX NM_139058.2(ARX): c.187G> A (p.Ala63Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 25015551: 25015551
6 ARX NM_139058.2(ARX): c.187G> A (p.Ala63Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 25033668: 25033668

Expression for Partington X-Linked Mental Retardation Syndrome

Search GEO for disease gene expression data for Partington X-Linked Mental Retardation Syndrome.

Pathways for Partington X-Linked Mental Retardation Syndrome

Pathways related to Partington X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.46 DLG3 MECP2 NKX2-2 OPHN1
2 11.34 ASCL1 MECP2 NKX2-2
3 10.63 ASCL1 NKX2-2

GO Terms for Partington X-Linked Mental Retardation Syndrome

Cellular components related to Partington X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glutamatergic synapse GO:0098978 8.92 DLG3 GHRL IL1RAPL1 OPHN1

Biological processes related to Partington X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.77 ARX ASCL1 NKX2-2 OPHN1 STMN1
2 brain development GO:0007420 9.71 MECP2 NKX2-2 POU3F4 STMN1
3 regulation of cell proliferation GO:0042127 9.69 ARX ASCL1 GHRL
4 neuron differentiation GO:0030182 9.56 ASCL1 IL1RAPL1 MECP2 OPHN1
5 dendrite development GO:0016358 9.52 GHRL MECP2
6 positive regulation of synapse assembly GO:0051965 9.5 GHRL IL1RAPL1 MECP2
7 oligodendrocyte development GO:0014003 9.49 ASCL1 NKX2-2
8 regulation of postsynapse organization GO:0099175 9.48 GHRL IL1RAPL1
9 neuron fate specification GO:0048665 9.46 ASCL1 NKX2-2
10 neuron projection development GO:0031175 9.46 MECP2 OPHN1 PQBP1 STMN1
11 forebrain neuron differentiation GO:0021879 9.43 ASCL1 POU3F4
12 spinal cord oligodendrocyte cell differentiation GO:0021529 8.96 ASCL1 NKX2-2
13 spinal cord oligodendrocyte cell fate specification GO:0021530 8.62 ASCL1 NKX2-2

Molecular functions related to Partington X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ionotropic glutamate receptor binding GO:0035255 8.96 DLG3 OPHN1
2 double-stranded DNA binding GO:0003690 8.8 ASCL1 POU3F4 PQBP1

Sources for Partington X-Linked Mental Retardation 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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