MCID: PRT003
MIFTS: 44

Partington Syndrome

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

Aliases & Classifications for Partington Syndrome

MalaCards integrated aliases for Partington Syndrome:

Name: Partington Syndrome 54 12 50 25 56 71 13 14
Partington X-Linked Mental Retardation Syndrome 50 24 25 29 69
Russell-Silver Syndrome, X-Linked 29 42 69
Prts 50 25 71
Partington-Mulley Syndrome 25 56
Mrxs1 50 71
Intellectual Disability, X-Linked, with Dystonic Movements, Ataxia, and Seizures 50
X-Linked Mental Retardation with Dystonic Movements, Ataxia, and Seizures 25
Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome 50
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome 56
X-Linked Intellectual Deficit-Dystonia-Dysarthria 25
Intellectual Disability, X-Linked, Syndromic 1 50
X-Linked Syndromic Mental Retardation 1 71
X-Linked Russell-Silver Syndrome 12
Mrx36 25

Characteristics:

Orphanet epidemiological data:

56
partington syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
x-linked recessive


HPO:

32
partington syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Partington Syndrome

OMIM : 54
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 Syndrome, also known as partington x-linked mental retardation syndrome, is related to lesch-nyhan syndrome and pigmentary disorder, reticulate, with systemic manifestations, x-linked, and has symptoms including dysarthria, seizures and intrauterine growth retardation. An important gene associated with Partington 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 behavior/neurological and adipose tissue

NIH Rare Diseases : 50 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. last updated: 6/30/2015

UniProtKB/Swiss-Prot : 71 Partington syndrome: Characterized by mental retardation, episodic dystonic hand movements, 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.

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

Related Diseases for Partington Syndrome

Graphical network of the top 20 diseases related to Partington Syndrome:



Diseases related to Partington Syndrome

Symptoms & Phenotypes for Partington Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skeletal:
joint contractures

Head And Neck- Face:
long, triangular face

Neurologic- Central Nervous System:
mental retardation
speech delay
dysarthria
eeg abnormalities
seizures
more

Clinical features from OMIM:

309510

Human phenotypes related to Partington Syndrome:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 seizures 32 HP:0001250
3 intrauterine growth retardation 32 HP:0001511
4 intellectual disability 32 HP:0001249
5 lower limb spasticity 32 HP:0002061
6 triangular face 32 HP:0000325
7 limb dystonia 32 HP:0002451
8 delayed speech and language development 32 HP:0000750
9 eeg abnormality 32 HP:0002353
10 flexion contracture 32 HP:0001371
11 cafe-au-lait spot 32 HP:0000957
12 focal dystonia 32 HP:0004373

UMLS symptoms related to Partington Syndrome:


ataxia, seizures

MGI Mouse Phenotypes related to Partington Syndrome:

44
id 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 OPHN1 POU3F4 RPS6KA3 SLC16A2 STMN1 ARX

Drugs & Therapeutics for Partington Syndrome

Search Clinical Trials , NIH Clinical Center for Partington Syndrome

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

Genetic Tests for Partington Syndrome

Genetic tests related to Partington Syndrome:

id Genetic test Affiliating Genes
1 Partington X-Linked Mental Retardation Syndrome 29 24
2 Russell-Silver Syndrome, X-Linked 29

Anatomical Context for Partington Syndrome

MalaCards organs/tissues related to Partington Syndrome:

39
Brain

Publications for Partington Syndrome

Articles related to Partington Syndrome:

id 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 Syndrome

ClinVar genetic disease variations for Partington Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ARX NM_139058.2(ARX) duplication Pathogenic rs387906493 GRCh37 Chromosome X, 25031661: 25031684

Expression for Partington Syndrome

Search GEO for disease gene expression data for Partington Syndrome.

Pathways for Partington Syndrome

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

id Super pathways Score Top Affiliating Genes
1 11.43 DLG3 MECP2 NKX2-2 OPHN1
2 11.34 ASCL1 MECP2 NKX2-2
3 10.63 ASCL1 NKX2-2

GO Terms for Partington Syndrome

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.67 MECP2 NKX2-2 POU3F4 STMN1
2 neuron differentiation GO:0030182 9.65 ASCL1 IL1RAPL1 MECP2
3 neuron projection development GO:0031175 9.63 MECP2 PQBP1 STMN1
4 mitotic spindle organization GO:0007052 9.52 MECP2 STMN1
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 9.43 ASCL1 NKX2-2
8 forebrain neuron differentiation GO:0021879 9.4 ASCL1 POU3F4
9 positive regulation of synapse assembly GO:0051965 9.32 GHRL MECP2
10 lipid digestion GO:0044241 9.26 ARX PNLIP
11 spinal cord oligodendrocyte cell fate specification GO:0021530 9.16 ASCL1 NKX2-2
12 nervous system development GO:0007399 9.1 ARX ASCL1 DLG3 NKX2-2 OPHN1 STMN1
13 spinal cord oligodendrocyte cell differentiation GO:0021529 8.96 ASCL1 NKX2-2

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

id 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 8.62 ASCL1 POU3F4

Sources for Partington Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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