MCID: PRT052
MIFTS: 41

Partington X-Linked Mental Retardation Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental 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 57 53 25 29 6 73
Partington Syndrome 57 12 53 25 59 75 37 13 15
Prts 57 53 25 75
Mrxs1 57 53 75
Russell-Silver Syndrome, X-Linked 44 73
Partington-Mulley Syndrome 25 59
Mrx36 57 25
Intellectual Disability, X-Linked, with Dystonic Movements, Ataxia, and Seizures 53
Mental Retardation, X-Linked, with Dystonic Movements, Ataxia, and Seizures 57
X-Linked Mental Retardation with Dystonic Movements, Ataxia, and Seizures 25
Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome 53
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome 59
X-Linked Intellectual Deficit-Dystonia-Dysarthria 25
Mental Retardation, X-Linked, Syndromic 1; Mrxs1 57
Intellectual Disability, X-Linked, Syndromic 1 53
Mental Retardation, X-Linked, Syndromic 1 57
X-Linked Syndromic Mental Retardation 1 75
Mental Retardation, X-Linked 36; Mrx36 57
X-Linked Russell-Silver Syndrome 12
Mental Retardation, X-Linked 36 57

Characteristics:

Orphanet epidemiological data:

59
partington syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
partington x-linked mental retardation syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Partington X-Linked Mental Retardation Syndrome

OMIM : 57 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 ataxia and seizures. 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 : 25 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 : 53 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 dysarthria 32 HP:0001260
4 eeg abnormality 32 HP:0002353
5 delayed speech and language development 32 HP:0000750
6 flexion contracture 32 HP:0001371
7 triangular face 32 HP:0000325
8 lower limb spasticity 32 HP:0002061
9 focal dystonia 32 HP:0004373
10 limb dystonia 32 HP:0002451

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


ataxia, seizures

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 ARX ASCL1 DLG3 GHRL MECP2 OPHN1
2 adipose tissue MP:0005375 9.55 DLG3 GHRL MECP2 PNLIP RPS6KA3
3 nervous system MP:0003631 9.36 STMN1 ARX ASCL1 DLG3 IL1RAPL1 MECP2

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 29 ARX

Anatomical Context for Partington X-Linked Mental Retardation Syndrome

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

41
Brain

Publications for Partington X-Linked Mental Retardation Syndrome

Articles related to Partington X-Linked Mental Retardation Syndrome:

# Title Authors Year
1
Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype. ( 24727054 )
2014
2
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. ( 12376949 )
2002
3
Clinical study and haplotype analysis in two brothers with Partington syndrome. ( 12376938 )
2002

Variations for Partington X-Linked Mental Retardation Syndrome

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

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.73 MECP2 NKX2-2 POU3F4 STMN1
2 positive regulation of synapse assembly GO:0051965 9.58 GHRL IL1RAPL1 MECP2
3 mitotic spindle organization GO:0007052 9.54 MECP2 STMN1
4 positive regulation of protein tyrosine kinase activity GO:0061098 9.52 DLG3 GHRL
5 dendrite development GO:0016358 9.51 GHRL MECP2
6 oligodendrocyte development GO:0014003 9.49 ASCL1 NKX2-2
7 neuron fate specification GO:0048665 9.48 ASCL1 NKX2-2
8 forebrain neuron differentiation GO:0021879 9.46 ASCL1 POU3F4
9 neuron projection development GO:0031175 9.46 MECP2 OPHN1 PQBP1 STMN1
10 lipid digestion GO:0044241 9.37 ARX PNLIP
11 spinal cord oligodendrocyte cell differentiation GO:0021529 9.32 ASCL1 NKX2-2
12 spinal cord oligodendrocyte cell fate specification GO:0021530 9.26 ASCL1 NKX2-2
13 neuron differentiation GO:0030182 9.26 ASCL1 IL1RAPL1 MECP2 OPHN1
14 nervous system development GO:0007399 9.1 ARX ASCL1 DLG3 NKX2-2 OPHN1 STMN1

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.26 ARX ASCL1 MECP2 NKX2-2
2 ionotropic glutamate receptor binding GO:0035255 9.16 DLG3 OPHN1
3 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 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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