Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAtaxia (D001259)
Parent Node:
expandMental Retardation, X-Linked (D038901)
Parent Node:
expandSeizures (D012640)
..Starting node
..expandPartington X-linked mental retardation syndrome (C536300)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDysmyelination With Jaundice (C565610)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandHyper-Beta-Alaninemia (C562684)
..expandHyperleucine-Isoleucinemia (C562674)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMuller Barth Menger syndrome (C537370)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSeSAME syndrome (C557674)
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWarman Mulliken Hayward syndrome (C536684)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8700
Name:Partington X-linked mental retardation syndrome
Definition:
Alternative IDs:OMIM:309510
ParentIDs:MESH:D001259|MESH:D012640|MESH:D038901
TreeNumbers:C10.228.140.490.631/C536300 |C10.597.350.090/C536300 |C10.597.606.643.455/C536300 |C10.597.742/C536300 |C16.320.322.500/C536300 |C16.320.400.525/C536300 |C23.888.592.350.090/C536300 |C23.888.592.742/C536300
Synonyms:Mental retardation-dystonic movements-ataxia-seizures syndrome |Mental Retardation, X-Linked 36 |Mental retardation, X-linked, syndromic 1 |Mental retardation, X-linked, with dystonic movements, ataxia, and seizures |MRX36 |MRXS1 |Partington syndrome |PRTS
Slim Mappings:Genetic disease (inborn)|Nervous system disease|Signs and symptoms
Reference: MedGen: C536300
MeSH: C536300
OMIM: 309510;

Genes: ARX;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0000750Delayed speech and language development
3 HP:0001260Dysarthria
4 HP:0002353EEG abnormality
5 HP:0001371Flexion contracture
6 HP:0004373Focal dystonia
7 HP:0001249Intellectual disability
8 HP:0002451Limb dystonia
9 HP:0002061Lower limb spasticity
10 HP:0001250Seizure
11 HP:0000325Triangular face
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_139058.2(ARX):c.428_451dup24 (p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla)170302ARXPathogenic387906493RCV000011937; RCV000011938; RCV000033212; YMedGen:C0796244,OMIM:300419; MedGen:C0796250,OMIM:309510,ORPHA:94083; MedGen:C3463992,OMIM:308350X2503166125031684NM_139058.2:c.428_451dup24NP_620689.1:p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAlaNC_000023.10:g.25031661_25031684dup24OMIM Allelic Variant:300382.0002C3463992 308350 Epileptic encephalopathy, early infantile, 1; C0796244 300419 Mental retardation, with or without seizures, ARX-related, X-linked; C0796250 309510 Partington X-linked mental retardation syndrome