PRTS
MCID: PRT052
MIFTS: 45

Partington X-Linked Mental Retardation Syndrome (PRTS)

Categories: Genetic diseases, Mental diseases, Muscle 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 57 43 70
Partington Syndrome 57 12 20 43 58 72 36 29 13 6 15
Prts 57 20 43 72
Mrxs1 57 20 72
Russell-Silver Syndrome, X-Linked 44 70
Partington-Mulley Syndrome 43 58
Mrx36 57 43
Intellectual Disability, X-Linked, with Dystonic Movements, Ataxia, and Seizures 20
Mental Retardation, X-Linked, with Dystonic Movements, Ataxia, and Seizures 57
X-Linked Mental Retardation with Dystonic Movements, Ataxia, and Seizures 43
Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome 20
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome 58
X-Linked Intellectual Deficit-Dystonia-Dysarthria 43
Mental Retardation, X-Linked, Syndromic 1; Mrxs1 57
Intellectual Disability, X-Linked, Syndromic 1 20
Mental Retardation, X-Linked, Syndromic 1 57
X-Linked Syndromic Mental Retardation 1 72
Mental Retardation, X-Linked 36; Mrx36 57
X-Linked Russell-Silver Syndrome 12
Mental Retardation, X-Linked 36 57

Characteristics:

Orphanet epidemiological data:

58
partington syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive


HPO:

31
partington x-linked mental retardation syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Partington X-Linked Mental Retardation Syndrome

MedlinePlus Genetics : 43 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.The intellectual disability associated with Partington syndrome usually ranges from mild to moderate. Some affected individuals have characteristics of autism spectrum disorders that affect communication and social interaction. Recurrent seizures (epilepsy) may also occur in Partington syndrome.Focal dystonia of the hands is a feature that distinguishes Partington syndrome from other intellectual disability syndromes. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions; tremors; and other uncontrolled movements. The term "focal" refers to a type of dystonia that affects a single part of the body, in this case the hands. In Partington syndrome, focal dystonia of the hands, which is called the Partington sign, begins in early childhood and gradually gets worse. This condition typically causes difficulty with grasping movements or using a pen or pencil.People with Partington syndrome may also have dystonia affecting other parts of the body; dystonia affecting the muscles in the face and those involved in speech may cause impaired speech (dysarthria). People with this disorder may also have an awkward way of walking (gait). Signs and symptoms can vary widely, even within the same family.

MalaCards based summary : Partington X-Linked Mental Retardation Syndrome, also known as partington syndrome, is related to mental retardation, x-linked, with or without seizures, arx-related and lissencephaly, x-linked, 2, and has symptoms including seizures and ataxia. An important gene associated with Partington X-Linked Mental Retardation Syndrome is ARX (Aristaless Related Homeobox). The drugs Sunflower and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include testis, kidney and eye, and related phenotypes are triangular face and limb dystonia

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

GARD : 20 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.

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 (see 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) (Updated 05-Apr-2021)

KEGG : 36 Partington syndrome, also known as Partington X-linked mental retardation syndrome (PRTS), is characterized by moderate to severe mental retardation, dysarthria, facial muscle weakness, severe dysdiadochokinesis, slow dystonic movements, and mild spasticity of the hands. The symptoms are extrapyramidal and without cerebellar involvement. ARX gene mutations were reported in various forms of X-linked mental retardation, including Partington syndrome. ARX is considered to have an important role in neuronal proliferation, interneuronal migration and differentiation in the embryonic brain, and also in the differentiation of the testis. Expansion of polyalanine tracts, missense mutation outside the homeodomain and deletions of exon 5 cause non-malformation syndromes such as Partington syndrome.

UniProtKB/Swiss-Prot : 72 Partington syndrome: Characterized by mental retardation, episodic dystonic hand movements, and dysarthria.

Related Diseases for Partington X-Linked Mental Retardation Syndrome

Diseases related to Partington X-Linked Mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, with or without seizures, arx-related 32.1 LOC109610631 ARX
2 lissencephaly, x-linked, 2 32.0 LOC109610631 ARX
3 developmental and epileptic encephalopathy 1 30.1 USP17L3 PRR20D LOC109610631 GOLGA6B ARX
4 non-syndromic x-linked intellectual disability 28.9 ZNF674 ZNF526 SLC6A8 RPS6KA3 PTCHD1 OPHN1
5 russell-silver syndrome, x-linked 11.5
6 basal encephalocele 10.3 LOC109610631 ARX
7 autosomal dominant non-syndromic intellectual disability 4 10.3 ZNF674 ZNF526
8 autosomal dominant non-syndromic intellectual disability 5 10.3 ZNF674 ZNF526
9 syndromic x-linked intellectual disability siderius type 10.2 ZNF674 ZNF526
10 lissencephaly 2 10.2 LOC109610631 ARX
11 pitt-hopkins-like syndrome 2 10.2 ZNF674 ZNF526
12 cerebral creatine deficiency syndrome 1 10.1 SLC6A8 PQBP1 OPHN1
13 west syndrome 10.1
14 pettigrew syndrome 10.1 PQBP1 AP1S2
15 pigmentary disorder, reticulate, with systemic manifestations, x-linked 10.1 PQBP1 ARX
16 syndromic intellectual disability 10.1 PQBP1 PHF6 ARX
17 dystonia 10.0
18 spasticity 10.0
19 x-linked monogenic disease 10.0 RPS6KA3 POU3F4 AFF2
20 specific developmental disorder 9.9 SLC6A8 OPHN1 AFF2
21 syndromic x-linked intellectual disability 9.8 ZNF674 PTCHD1 PQBP1 PHF6
22 alacrima, achalasia, and mental retardation syndrome 9.3 SLC6A8 RPS6KA3 PHF6 ARX AFF2
23 disease of mental health 9.0 ZNF526 SLC6A8 RPS6KA3 PTCHD1 PQBP1 PHF6

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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
2 limb dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002451
3 dysarthria 58 31 very rare (1%) Frequent (79-30%) HP:0001260
4 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
5 macroorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000053
6 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
7 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
8 lower limb spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002061
9 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
10 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
11 facial telangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007380
12 seizure 31 very rare (1%) HP:0001250
13 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
14 behavioral abnormality 31 very rare (1%) HP:0000708
15 infantile spasms 31 very rare (1%) HP:0012469
16 camptodactyly 31 very rare (1%) HP:0012385
17 focal dystonia 31 very rare (1%) HP:0004373
18 seizures 58 Occasional (29-5%)
19 flexion contracture 31 HP:0001371

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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


seizures; ataxia

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 9.36 AP1S2 ARX LMO1 OPHN1 PABPN1 PHF6

Drugs & Therapeutics for Partington X-Linked Mental Retardation Syndrome

Drugs for Partington X-Linked Mental Retardation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Sunflower Phase 3
2
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
3
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
4
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
6
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
7
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
8
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
9 Pharmaceutical Solutions Phase 2
10 Sodium Morrhuate Phase 2
11 Sclerosing Solutions Phase 2
12 Epoetin alfa Phase 2 113427-24-0
13 Hematinics Phase 2
14 Gastrointestinal Agents Phase 2
15 Olopatadine Hydrochloride Phase 2
16 Neuroprotective Agents Phase 2
17 Antiemetics Phase 2
18 Methylprednisolone Acetate Phase 2
19 Protective Agents Phase 2
20 Hormone Antagonists Phase 2
21 glucocorticoids Phase 2
22 Hormones Phase 2
23 Antineoplastic Agents, Hormonal Phase 2
24 Anti-Inflammatory Agents Phase 2
25
Dopamine Approved Phase 1 62-31-7, 51-61-6 681
26
Amphetamine Approved, Illicit, Investigational Phase 1 300-62-9 5826 3007
27
Dextroamphetamine Approved, Illicit Phase 1 51-64-9 5826
28 Central Nervous System Stimulants Phase 1
29 Dopamine Agents Phase 1
30 Sympathomimetics Phase 1
31 Neurotransmitter Agents Phase 1
32 Dopamine Uptake Inhibitors Phase 1
33 Adrenergic Agents Phase 1
34
Aspirin Approved, Vet_approved 50-78-2 2244
35
Pyrantel Approved, Vet_approved 15686-83-6
36
tannic acid Approved 1401-55-4
37
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
38
Imidacloprid Vet_approved 105827-78-9 86418
39 Vasodilator Agents
40 Analgesics, Non-Narcotic
41 Analgesics
42 Fibrinolytic Agents
43 Antirheumatic Agents
44 Cyclooxygenase Inhibitors
45 Anti-Inflammatory Agents, Non-Steroidal
46 Antipyretics
47 Platelet Aggregation Inhibitors
48 Analgesics, Opioid
49 Anesthetics
50 Pyrantel Pamoate

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Multicenter, Double-Blind, Placebo-Controlled Study of PRT-201 Administered Immediately After Radiocephalic Arteriovenous Fistula Creation in Patients With Chronic Kidney Disease Completed NCT02110901 Phase 3 PRT-201;Placebo
2 Multicenter, Double Blind, Placebo Controlled Study of Vonapanitase (PRT- 201) Administered Immediately After Radiocephalic Arteriovenous Fistula Creation in Patients With Chronic Kidney Disease Completed NCT02414841 Phase 3 Vonapanitase;Placebo
3 Randomized Trial to Evaluate Mirasol Whole Blood Pathogen Reduction Technology System to Reduce Malaria and Emerging Transfusion Transmitted Infections Recruiting NCT03737669 Phase 3
4 A Multi-center, Single-blind, Randomized, Parallel, Non Inferiority Study to Separately Investigate the Effect of Standard Platelets Versus Platelets Prepared With Two Commercial Procedures of Pathogen Reduction Technologies (PRT) on Bleeding Incidence and Severity in Thrombocytopenic Recipients Terminated NCT01642563 Phase 3
5 The Efficacy of Prolotherapy and Platelet Rich Plasma Injections for Lateral Epicondylosis: a Pilot Study Completed NCT01476605 Phase 2
6 The Effect of Exercise on Renal Function and Cardiovascular Disease in Pre-dialysis (Chronic Kidney Disease Stage 3-4) Patients With Chronic Kidney Disease; a Randomised Controlled Trial Pilot Study. Completed NCT02155036 Phase 1, Phase 2
7 Multicenter, Double-Blind, Placebo-Controlled Study of PRT-201 Administered Immediately After Arteriovenous Fistula Creation in Patients With Chronic Kidney Disease Completed NCT01305824 Phase 2 PRT-201;Placebo;PRT-201
8 Effect of Activities and Exercise on Sleep in Dementia Completed NCT00888706 Phase 2
9 A Phase II Trial of Progressive Resistance Training (PRT) Plus Procrit for the Treatment of Anemia-Related Fatigue in Cancer Patients Completed NCT00004914 Phase 2
10 Multicenter, Randomized, Double-Blind, Placebo-Controlled, Dose Escalation Study of a Single Dose of PRT-201 Administered Immediately After Arteriovenous Graft Creation in Patients With Chronic Kidney Disease Completed NCT01001351 Phase 1, Phase 2 PRT-201;Placebo
11 A Phase 1-2, Multi-Center, Dose Escalation Study of a Single Dose of PRT-201 Administered Immediately After Arteriovenous Fistula Creation in Patients With Chronic Kidney Disease Completed NCT00679991 Phase 1, Phase 2 PRT-201;PRT-201
12 A Single-Center, Randomized, Double-Masked, Vehicle and Active-Controlled, Dose-Ranging Phase 2 Study Evaluating the Efficacy and Safety of PRT-2761 for the Treatment of Acute and Chronic Allergic Conjunctivitis Using the Conjunctival Allergen Challenge Model (Ora-CAC®) Completed NCT03320434 Phase 2 PRT-2761 0.5%;PRT-2761 1%;Patanol;Pred-forte;PRT-2761 0%
13 Effect of D-amphetamine on Reward Functioning Completed NCT03369015 Phase 1 10 mg d-amphetamine;20mg d-amphetamine;Placebo
14 Open-Label, Dose-Escalation, Pilot Study of PRT-201 Administered Following Angioplasty in Patients With Peripheral Artery Disease in the Lower Extremity Completed NCT01616290 Phase 1 PRT-201
15 Prevalence and Level of Thienopyridine Resistance Seen in a Contemporary PCI and CABG Population Unknown status NCT01408927
16 Tracking Intervention Effects With Eye Tracking Completed NCT02856061
17 Rehabilitation During Versus After Radiotherapy in Head and Neck Cancer - a Pilot Randomised Controlled Trial Completed NCT02439892
18 Life Stories for Opioid Risk Reduction in the ED Completed NCT03134092
19 Assessing Outcomes for Platelet Rich Therapy for Facial Rejuvenation Using the FACE-Q Questionnaire Completed NCT02730650
20 Clinical Effectiveness of Standard Versus Pathogen-reduced Buffy Coat-derived Platelet Concentrates in Plasma in Hemato-oncological Patients. Completed NCT02783313
21 Pilot Study to Determine Feasibility, Acceptance, and Efficacy of a 12-week Progressive Resistance Training Exercise Protocol in Patients With Class III Obesity Preparing for Bariatric Surgery. Completed NCT01100450
22 Use of a Video Decision Tool to Improve Informed Decision-Making in Hospitalized Patients Considering Palliative Radiation Therapy Completed NCT01667965
23 A Pilot Study: The Effects of Qigong Therapy on Type 2 Diabetic Patients Completed NCT00885846
24 Progressive Resistance Training Compared to Neuromuscular Exercise in Patients With Hip Osteoarthritis, and the Additive Effect of Booster Sessions: A Multicenter Randomized Controlled Trial Recruiting NCT04714047
25 Neuroimaging Predictors of Improvement to Pivotal Response Treatment (PRT) in Young Children With Autism Recruiting NCT03583684
26 Improving Access to Pivotal Response Treatment (PRT) Via Telehealth Parent Training Recruiting NCT04042337
27 A Center Based Randomized Controlled Trial of Pivotal Response Treatment for Preschoolers With Autism Recruiting NCT03778827
28 The Effect of PAO Followed by Progressive Resistance Training Versus Progressive Resistance Training in Patients With Hip Dysplasia. A Randomized Controlled Trial Recruiting NCT03941171
29 Effectiveness of a Multi-Level Implementation Strategy for ASD Interventions Recruiting NCT03380078
30 EuroPainClinics® Study I (Prospective Randomized Double Blinded Trial) Recruiting NCT02464553
31 High-Intensity Training Following Lung Transplantation: a Randomized Controlled Trial Active, not recruiting NCT03155074
32 Overcoming TWEAK Signaling to Restore Muscle and Mobility After Joint Replacement Active, not recruiting NCT02628795
33 Slow Wave Sleep as a Biomarker of Rehabilitation-induced Cognitive Improvement in Parkinson's Disease Not yet recruiting NCT04796506
34 Promoting Transactional Supports to Optimize Social Communication Outcomes for Infants and Their Families Suspended NCT03307057

Search 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 Syndrome 29 ARX

Anatomical Context for Partington X-Linked Mental Retardation Syndrome

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

40
Testis, Kidney, Eye, Whole Blood, Brain, Pancreas

Publications for Partington X-Linked Mental Retardation Syndrome

Articles related to Partington X-Linked Mental Retardation Syndrome:

(show all 39)
# Title Authors PMID Year
1
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. 6 57 61
12376949 2002
2
Clinical study and haplotype analysis in two brothers with Partington syndrome. 61 57 6
12376938 2002
3
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. 57 6
15200506 2004
4
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 6 57
11889467 2002
5
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. 57 6
11971879 2002
6
Linkage analysis in three families with nonspecific X-linked mental retardation. 6 57
8826464 1996
7
X-linked mental retardation with dystonic movements of the hands. 57 6
3177452 1988
8
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. 6 61
12376946 2002
9
Expansion of the ARX spectrum. 57
18462864 2008
10
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. 6
17480217 2007
11
Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation. 57
17082467 2006
12
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation. 6
16078051 2005
13
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. 6
15850492 2005
14
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. 6
15151512 2004
15
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 57
14722918 2004
16
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX. 6
12640086 2003
17
Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. 6
12116222 2002
18
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. 6
10398246 1999
19
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. 6
10353782 1999
20
Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment. 6
2080994 1990
21
A morphological classification of sincipital encephalomeningoceles. 6
5008734 1972
22
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. 61
30088852 2018
23
Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype. 61
24727054 2014
24
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia. 61
24528893 2014
25
X-linked mental deficiency. 61
23622180 2013
26
Mutational screening of ARX gene in Iranian families with X-linked intellectual disability. 61
22642246 2012
27
Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations. 61
22252899 2012
28
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms. 61
21204226 2011
29
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. 61
21204215 2011
30
Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation. 61
20538404 2010
31
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. 61
19507262 2009
32
[ARX--one gene--many phenotypes]. 61
18975239 2008
33
Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand. 61
17613295 2007
34
A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. 61
17641262 2007
35
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. 61
16235064 2006
36
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. 61
14992814 2004
37
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. 61
14631200 2003
38
Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). 61
8826457 1996
39
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22. 61
7943043 1994

Variations for Partington X-Linked Mental Retardation Syndrome

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC109610631 , ARX NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) Duplication Pathogenic 11187 rs387906493 GRCh37: X:25031660-25031661
GRCh38: X:25013543-25013544
2 ARX NM_139058.3(ARX):c.1170C>T (p.Gly390=) SNV Uncertain significance 234531 rs761632870 GRCh37: X:25025506-25025506
GRCh38: X:25007389-25007389
3 ARX NM_139058.3(ARX):c.187G>A (p.Ala63Thr) SNV Uncertain significance 581240 rs769996976 GRCh37: X:25033668-25033668
GRCh38: X:25015551-25015551
4 LOC109610631 , ARX NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) Duplication not provided 818170 rs750585274 GRCh37: X:25031656-25031657
GRCh38: X:25013539-25013540

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

GO Terms for Partington X-Linked Mental Retardation Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 ribonucleoprotein complex binding GO:0043021 8.62 PQBP1 PHF6

Sources for Partington X-Linked Mental Retardation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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