MCID: MNT135
MIFTS: 37

Mental Retardation, X-Linked, Syndromic 13

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

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

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic 13:

Name: Mental Retardation, X-Linked, Syndromic 13 54 12 50 29 13 69
Ppm-X Syndrome 50 24 25 69
Mrxs13 12 50 24 71
Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism 12 50 69
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome 12 56 14
Lindsay-Burn Syndrome 12 56
Ppm-X 12 56
Ppmx 25 71
Mental Retardation X-Linked with Psychosis-Pyramidal Signs-Macroorchidism 71
Psychosis, Pyramidal Signs, Parkinsonian Features and Macro-Orchidism 24
Intellectual Deficit, X-Linked - Psychosis - Macroorchidism 50
Mental Retardation X-Linked with Progressive Spasticity 71
Non-Specific X-Linked Mental Retardation Type 16 71
X-Linked Mental Retardation with Spasticity 12
Mental Retardation Psychosis Macroorchidism 50
Mental Retardation, X-Linked, Syndromic, 13 71
X-Linked Syndromic Mental Retardation 13 24
Mental Retardation, X-Linked 16 69
Mental Retardation, X-Linked 79 69
X-Linked Mental Retardation 79 12
Mental Retardation X-Linked 16 71
Mental Retardation X-Linked 79 71
Mrxppm 71
Mrx16 71
Mrx79 71

Characteristics:

Orphanet epidemiological data:

56
x-linked intellectual disability-psychosis-macroorchidism syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Miscellaneous:
slowly progressive
highly variable phenotype with respect to facial dysmorphism and neurologic features
female carriers may have mild mental retardation
allelic to rett syndrome

Inheritance:
x-linked recessive


HPO:

32
mental retardation, x-linked, syndromic 13:
Onset and clinical course slow progression
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked, Syndromic 13

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 3077old section part 1this syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. it has been described in 10 males. the syndrome is transmitted as an x-linkedtrait and has been associated with a mutation in the mecp2 gene, localised to segment 28 of the long arm of the x chromosome (xq28).old section part 2visit the orphanet disease page for more resources. last updated: 10/1/2006

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 ataxia, tremor and hyperreflexia. An important gene associated with Mental Retardation, X-Linked, Syndromic 13 is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include testes.

UniProtKB/Swiss-Prot : 71 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.

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.

OMIM : 54
The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always occurs in females. Males with non-RTT mutations in the MECP2 gene can demonstrate a wide variety of phenotypes, including X-linked mental retardation with spasticity and other variable features, described here, and Lubs X-linked mental retardation syndrome (MRXSL; 300260). Males with RTT-associated MECP2 mutations have neonatal severe encephalopathy that is usually lethal (300673) (Moog et al., 2003; Villard, 2007). (300055)

Disease Ontology : 12 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.

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

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic 13:



Diseases related to Mental Retardation, X-Linked, Syndromic 13

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

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate
sialorrhea

Head And Neck- Head:
microcephaly

Head And Neck- Ears:
large ears

Skeletal- Feet:
pes cavus

Head And Neck- Teeth:
bruxism

Muscle Soft Tissue:
distal atrophy of the legs

Neurologic- Central Nervous System:
mental retardation
ataxia
tremor
hyperreflexia
spasticity
more
Head And Neck- Face:
micrognathia
facial hypotonia

Head And Neck- Neck:
short neck

Neurologic- Behavioral Psychiatric Manifestations:
mood instability
psychosis
schizophrenic symptoms (reported in 1 patient)

Genitourinary- External Genitalia Male:
macroorchidism (described in 1 family)


Clinical features from OMIM:

300055

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

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 tremor 32 HP:0001337
3 hyperreflexia 32 HP:0001347
4 choreoathetosis 32 HP:0001266
5 seizures 32 HP:0001250
6 microcephaly 32 HP:0000252
7 micrognathia 32 HP:0000347
8 global developmental delay 32 HP:0001263
9 parkinsonism 32 HP:0001300
10 shuffling gait 32 HP:0002362
11 short neck 32 HP:0000470
12 pes cavus 32 HP:0001761
13 intellectual disability, mild 32 HP:0001256
14 psychosis 32 HP:0000709
15 high palate 32 HP:0000218
16 spastic gait 32 HP:0002064
17 drooling 32 HP:0002307
18 bruxism 32 HP:0003763
19 macroorchidism 32 HP:0000053
20 babinski sign 32 HP:0003487
21 facial hypotonia 32 HP:0000297
22 delayed speech and language development 32 HP:0000750
23 macrotia 32 HP:0000400
24 excessive salivation 32 HP:0003781
25 eeg abnormality 32 HP:0002353
26 abnormality of the dentition 32 HP:0000164

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


muscle spasticity, ataxia, seizures, tremor

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

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

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

id Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic 13 29
2 X-Linked Syndromic Mental Retardation 13 24 MECP2
3 Ppm-X Syndrome 24

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

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

39
Testes

Publications for Mental Retardation, X-Linked, Syndromic 13

Variations for Mental Retardation, X-Linked, Syndromic 13

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

71
id Symbol AA change Variation ID SNP ID
1 MECP2 p.Ala140Val VAR_010279 rs28934908
2 MECP2 p.Glu137Gly VAR_017581 rs61748392
3 MECP2 p.Arg167Trp VAR_018192 rs61748420
4 MECP2 p.Lys284Glu VAR_018203 rs61750255
5 MECP2 p.Arg453Gln VAR_018225 rs61753980
6 MECP2 p.Pro225Leu VAR_037664 rs61749715
7 MECP2 p.Pro322Ser VAR_037665 rs61751449

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

6 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
2 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh37 Chromosome X, 153296471: 153296471
3 MECP2 NM_004992.3(MECP2): c.1180G> T (p.Glu394Ter) single nucleotide variant Pathogenic rs63094662 GRCh37 Chromosome X, 153296099: 153296099
4 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
5 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
6 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
7 MECP2 NM_004992.3(MECP2): c.410A> G (p.Glu137Gly) single nucleotide variant Pathogenic rs61748392 GRCh37 Chromosome X, 153296869: 153296869
8 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh37 Chromosome X, 153296777: 153296777
9 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh37 Chromosome X, 153296516: 153296516
10 MECP2 MECP2, 240-BP DEL, NT1161 deletion Pathogenic
11 MECP2 NM_004992.3(MECP2): c.674C> T (p.Pro225Leu) single nucleotide variant Pathogenic rs61749715 GRCh37 Chromosome X, 153296605: 153296605
12 MECP2 NM_004992.3(MECP2): c.964C> T (p.Pro322Ser) single nucleotide variant Pathogenic rs61751449 GRCh37 Chromosome X, 153296315: 153296315
13 MECP2 NM_004992.3(MECP2): c.454C> G (p.Pro152Ala) single nucleotide variant Pathogenic rs179363900 GRCh37 Chromosome X, 153296825: 153296825
14 MECP2 NM_004992.3(MECP2): c.468C> G (p.Asp156Glu) single nucleotide variant Pathogenic rs61748408 GRCh37 Chromosome X, 153296811: 153296811
15 MECP2 NM_004992.3(MECP2): c.611C> G (p.Ser204Ter) single nucleotide variant Pathogenic rs61749724 GRCh37 Chromosome X, 153296668: 153296668
16 MECP2 NM_004992.3(MECP2): c.730C> T (p.Gln244Ter) single nucleotide variant Pathogenic rs61749747 GRCh37 Chromosome X, 153296549: 153296549
17 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh37 Chromosome X, 153296473: 153296473
18 MECP2 NM_004992.3(MECP2): c.108_111delAGAA (p.Glu37Argfs) deletion Pathogenic rs267608426 GRCh37 Chromosome X, 153297924: 153297927
19 MECP2 NM_004992.3(MECP2): c.1135_1142delCCCGTGCC (p.Pro379Thrfs) deletion Pathogenic rs267608571 GRCh37 Chromosome X, 153296137: 153296144
20 MECP2 NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs) deletion Pathogenic rs267608327 GRCh37 Chromosome X, 153296082: 153296122
21 MECP2 NM_004992.3(MECP2): c.1157_1200del44 (p.Leu386Glnfs) deletion Pathogenic rs63749748 GRCh37 Chromosome X, 153296079: 153296122
22 MECP2 NM_004992.3(MECP2): c.1159_1160delCCinsT (p.Pro387Serfs) indel Pathogenic rs267608590 GRCh37 Chromosome X, 153296119: 153296120
23 MECP2 NM_001110792.1(MECP2): c.1198_1199delCCinsTA (p.Pro400Ter) indel Pathogenic rs267608597 GRCh37 Chromosome X, 153296116: 153296117
24 MECP2 NM_004992.3(MECP2): c.1216C> T (p.Gln406Ter) single nucleotide variant Pathogenic rs61753965 GRCh37 Chromosome X, 153296063: 153296063
25 MECP2 NM_004992.3(MECP2): c.1415_1416delAG (p.Glu472Glyfs) deletion Pathogenic rs267608634 GRCh37 Chromosome X, 153295863: 153295864
26 MECP2 NM_004992.3(MECP2): c.674C> G (p.Pro225Arg) single nucleotide variant Pathogenic rs61749715 GRCh37 Chromosome X, 153296605: 153296605
27 MECP2 NM_001110792.1(MECP2): c.1202_1203insC (p.Pro402Serfs) insertion Pathogenic rs797044733 GRCh37 Chromosome X, 153296113: 153296113
28 MECP2 NM_001110792.1(MECP2): c.1147dupC (p.His383Profs) duplication Pathogenic rs1057519404 GRCh37 Chromosome X, 153296168: 153296168
29 MECP2 NC_000023.10: g.(?_153287264)_(153363188_?)dup duplication Pathogenic GRCh37 Chromosome X, 153287264: 153363188
30 MECP2 NM_001110792.1(MECP2): c.41_57dup17 (p.Arg20Glufs) duplication Pathogenic GRCh37 Chromosome X, 153363066: 153363082
31 MECP2 NM_001110792.1(MECP2): c.1194_*3444del deletion Pathogenic GRCh38 Chromosome X, 154026923: 154030670

Expression for Mental Retardation, X-Linked, Syndromic 13

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

Pathways for Mental Retardation, X-Linked, Syndromic 13

GO Terms for Mental Retardation, X-Linked, Syndromic 13

Biological processes related to Mental Retardation, X-Linked, Syndromic 13 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 respiratory gaseous exchange GO:0007585 8.62 HNMT MECP2

Sources for Mental Retardation, X-Linked, Syndromic 13

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