MCID: MNT135
MIFTS: 31

Mental Retardation, X-Linked, Syndromic 13 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases, Eye diseases, Cardiovascular diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic 13

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Aliases & Descriptions for Mental Retardation, X-Linked, Syndromic 13:

Name: Mental Retardation, X-Linked, Syndromic 13 52 11 48 12 68
Ppm-X Syndrome 48 24 25 68
Mrxs13 11 48 24 70
Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism 11 48 68
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome 11 54
Mental Retardation, X-Linked, Syndromic, 13 70 27
Lindsay-Burn Syndrome 11 54
Ppm-X 11 54
Ppmx 25 70
Mental Retardation X-Linked with Psychosis-Pyramidal Signs-Macroorchidism 70
Psychosis, Pyramidal Signs, Parkinsonian Features and Macro-Orchidism 24
Intellectual Deficit, X-Linked - Psychosis - Macroorchidism 48
Mental Retardation X-Linked with Progressive Spasticity 70
 
Non-Specific X-Linked Mental Retardation Type 16 70
Mental Retardation Psychosis Macroorchidism 48
X-Linked Mental Retardation with Spasticity 11
X-Linked Syndromic Mental Retardation 13 24
Mental Retardation, X-Linked 16 68
Mental Retardation, X-Linked 79 68
Mental Retardation X-Linked 16 70
Mental Retardation X-Linked 79 70
X-Linked Mental Retardation 79 11
Mrxppm 70
Mrx79 70
Mrx16 70

Characteristics:

Orphanet epidemiological data:

54
x-linked intellectual disability-psychosis-macroorchidism syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
mental retardation, x-linked, syndromic 13:
Inheritance: x-linked recessive inheritance
Onset and clinical course: slow progression

Classifications:



External Ids:

OMIM52 300055
Disease Ontology11 DOID:0060827
ICD1030 F71.1
Orphanet54 ORPHA3077
ICD10 via Orphanet31 F71.1
MeSH39 D038901

Summaries for Mental Retardation, X-Linked, Syndromic 13

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Genetics Home Reference:25 PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability. Other symptoms include increased muscle tone and exaggerated reflexes. Affected males may have enlarged testes (macro-orchidism). Not all affected individuals have all these symptoms, but most have intellectual disability. Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability.

MalaCards based summary: Mental Retardation, X-Linked, Syndromic 13, also known as ppm-x syndrome, is related to renpenning syndrome and mental retardation-hypotonic facies syndrome, x-linked, and has symptoms including macroorchidism, behavioral abnormality and hypertonia. An important gene associated with Mental Retardation, X-Linked, Syndromic 13 is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include testes.

Disease Ontology:11 A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has material basis in mutation in the MECP2 gene on chromosome Xq28.

OMIM:52 The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always... (300055) more...

UniProtKB/Swiss-Prot:70 Mental retardation, X-linked, syndromic, 13: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism.

Related Diseases for Mental Retardation, X-Linked, Syndromic 13

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Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic 13

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Symptoms by clinical synopsis from OMIM:

300055

Clinical features from OMIM:

300055

Human phenotypes related to Mental Retardation, X-Linked, Syndromic 13:

 64 (show all 33)
id Description HPO Frequency HPO Source Accession
1 macroorchidism64 hallmark (90%) HP:0000053
2 behavioral abnormality64 hallmark (90%) HP:0000708
3 hypertonia64 hallmark (90%) HP:0001276
4 cognitive impairment64 hallmark (90%) HP:0100543
5 macrotia64 typical (50%) HP:0000400
6 seizures64 typical (50%) HP:0001250
7 gait disturbance64 typical (50%) HP:0001288
8 eeg abnormality64 typical (50%) HP:0002353
9 abnormality of the cardiovascular system64 occasional (7.5%) HP:0001626
10 developmental regression64 occasional (7.5%) HP:0002376
11 scoliosis64 occasional (7.5%) HP:0002650
12 abnormality of the teeth64 HP:0000164
13 high palate64 HP:0000218
14 microcephaly64 HP:0000252
15 facial hypotonia64 HP:0000297
16 micrognathia64 HP:0000347
17 short neck64 HP:0000470
18 psychosis64 HP:0000709
19 delayed speech and language development64 HP:0000750
20 ataxia64 HP:0001251
21 intellectual disability, mild64 HP:0001256
22 global developmental delay64 HP:0001263
23 choreoathetosis64 HP:0001266
24 parkinsonism64 HP:0001300
25 tremor64 HP:0001337
26 hyperreflexia64 HP:0001347
27 pes cavus64 HP:0001761
28 spastic gait64 HP:0002064
29 drooling64 HP:0002307
30 shuffling gait64 HP:0002362
31 babinski sign64 HP:0003487
32 bruxism64 HP:0003763
33 excessive salivation64 HP:0003781

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic 13:


muscle spasticity, ataxia, seizures, tremor

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic 13

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Mental Retardation, X-Linked, Syndromic 13

Genetic Tests for Mental Retardation, X-Linked, Syndromic 13

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Genetic tests related to Mental Retardation, X-Linked, Syndromic 13:

id Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic 1327
2 X-Linked Syndromic Mental Retardation 1324 MECP2
3 Ppm-X Syndrome24

Anatomical Context for Mental Retardation, X-Linked, Syndromic 13

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MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic 13:

36
Testes

Publications for Mental Retardation, X-Linked, Syndromic 13

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Variations for Mental Retardation, X-Linked, Syndromic 13

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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic 13:

70
id Symbol AA change Variation ID SNP ID
1MECP2p.Ala140ValVAR_010279rs28934908
2MECP2p.Glu137GlyVAR_017581rs61748392
3MECP2p.Arg167TrpVAR_018192rs61748420
4MECP2p.Lys284GluVAR_018203rs61750255
5MECP2p.Arg453GlnVAR_018225rs61753980
6MECP2p.Pro225LeuVAR_037664rs61749715
7MECP2p.Pro322SerVAR_037665rs61751449

Clinvar genetic disease variations for Mental Retardation, X-Linked, Syndromic 13:

5 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1MECP2NM_004992.3(MECP2): c.397C> T (p.Arg133Cys)SNVPathogenicrs28934904GRCh37Chr X, 153296882: 153296882
2MECP2NM_004992.3(MECP2): c.473C> T (p.Thr158Met)SNVPathogenicrs28934906GRCh37Chr X, 153296806: 153296806
3MECP2NM_004992.3(MECP2): c.808C> T (p.Arg270Ter)SNVPathogenicrs61750240GRCh37Chr X, 153296471: 153296471
4MECP2NM_004992.3(MECP2): c.1180G> T (p.Glu394Ter)SNVPathogenicrs63094662GRCh37Chr X, 153296099: 153296099
5MECP2NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter)SNVLikely pathogenic, Pathogenic, risk factorrs61751362GRCh37Chr X, 153296399: 153296399
6MECP2NM_004992.3(MECP2): c.419C> T (p.Ala140Val)SNVLikely pathogenic, Pathogenicrs28934908GRCh37Chr X, 153296860: 153296860
7MECP2NM_004992.3(MECP2): c.916C> T (p.Arg306Cys)SNVPathogenicrs28935468GRCh37Chr X, 153296363: 153296363
8MECP2NM_004992.3(MECP2): c.410A> G (p.Glu137Gly)SNVPathogenicrs61748392GRCh37Chr X, 153296869: 153296869
9MECP2NM_004992.3(MECP2): c.502C> T (p.Arg168Ter)SNVPathogenicrs61748421GRCh37Chr X, 153296777: 153296777
10MECP2NM_004992.3(MECP2): c.763C> T (p.Arg255Ter)SNVPathogenicrs61749721GRCh37Chr X, 153296516: 153296516
11MECP2MECP2, 240-BP DEL, NT1161deletionPathogenicChr na, -1: -1
12MECP2NM_004992.3(MECP2): c.674C> T (p.Pro225Leu)SNVPathogenicrs61749715GRCh37Chr X, 153296605: 153296605
13MECP2NM_004992.3(MECP2): c.964C> T (p.Pro322Ser)SNVPathogenicrs61751449GRCh37Chr X, 153296315: 153296315
14MECP2NM_004992.3(MECP2): c.454C> G (p.Pro152Ala)SNVPathogenicrs179363900GRCh37Chr X, 153296825: 153296825
15MECP2NM_004992.3(MECP2): c.1135_1142delCCCGTGCC (p.Pro379Thrfs)deletionPathogenicrs267608571GRCh37Chr X, 153296137: 153296144
16MECP2NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs)deletionPathogenicrs267608327GRCh37Chr X, 153296082: 153296122
17MECP2NM_004992.3(MECP2): c.1159_1160delCCinsT (p.Pro387Serfs)indelPathogenicrs267608590GRCh37Chr X, 153296119: 153296120
18MECP2NM_001110792.1(MECP2): c.1198_1199delCCinsTA (p.Pro400Ter)indelPathogenicrs267608597GRCh37Chr X, 153296116: 153296117
19MECP2NM_004992.3(MECP2): c.1164_1207del44 (p.Pro389Terfs)deletionPathogenicrs61752992GRCh37Chr X, 153296072: 153296115
20MECP2NM_004992.3(MECP2): c.1216C> T (p.Gln406Ter)SNVPathogenicrs61753965GRCh37Chr X, 153296063: 153296063
21MECP2NM_004992.3(MECP2): c.1415_1416delAG (p.Glu472Glyfs)deletionPathogenicrs267608634GRCh37Chr X, 153295863: 153295864
22MECP2NM_004992.3(MECP2): c.499C> T (p.Arg167Trp)SNVPathogenicrs61748420GRCh37Chr X, 153296780: 153296780
23MECP2NM_004992.3(MECP2): c.925C> T (p.Arg309Trp)SNVLikely pathogenic, Pathogenicrs61751444GRCh37Chr X, 153296354: 153296354
24MECP2NM_001110792.1(MECP2): c.1202dupC (p.Pro402Serfs)duplicationPathogenicrs797044733GRCh37Chr X, 153296113: 153296113
25MECP2NM_004992.3(MECP2): c.468C> G (p.Asp156Glu)SNVPathogenicrs61748408GRCh37Chr X, 153296811: 153296811
26MECP2NM_004992.3(MECP2): c.611C> G (p.Ser204Ter)SNVPathogenicrs61749724GRCh37Chr X, 153296668: 153296668
27MECP2NM_004992.3(MECP2): c.730C> T (p.Gln244Ter)SNVPathogenicrs61749747GRCh37Chr X, 153296549: 153296549
28MECP2NM_004992.3(MECP2): c.806delG (p.Gly269Alafs)deletionPathogenicrs61750241GRCh37Chr X, 153296473: 153296473

Expression for genes affiliated with Mental Retardation, X-Linked, Syndromic 13

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Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic 13.

Pathways for genes affiliated with Mental Retardation, X-Linked, Syndromic 13

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GO Terms for genes affiliated with Mental Retardation, X-Linked, Syndromic 13

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Sources for Mental Retardation, X-Linked, Syndromic 13

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet