MCID: MNT135
MIFTS: 36

Mental Retardation, X-Linked, Syndromic 13

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases, Eye diseases, Cardiovascular diseases, Bone 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 57 12 53 29 13 6 73
Mrxs13 57 12 53 25 75
Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism 57 12 53 73
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome 12 59 15
Ppm-X Syndrome 53 25 73
Ppmx 57 25 75
Mental Retardation, X-Linked 79 57 73
Mental Retardation, X-Linked 16 57 73
Lindsay-Burn Syndrome 12 59
Mrx79 57 75
Mrx16 57 75
Ppm-X 12 59
Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism; Ppmx 57
Mental Retardation X-Linked with Psychosis-Pyramidal Signs-Macroorchidism 75
Intellectual Deficit, X-Linked - Psychosis - Macroorchidism 53
Mental Retardation X-Linked with Progressive Spasticity 75
Non-Specific X-Linked Mental Retardation Type 16 75
Mental Retardation, X-Linked, Syndromic, Type 13 40
Mental Retardation, X-Linked, with Spasticity 57
X-Linked Mental Retardation with Spasticity 12
Mental Retardation Psychosis Macroorchidism 53
Mental Retardation, X-Linked, Syndromic, 13 75
X-Linked Mental Retardation, Syndromic 13 25
Mental Retardation, X-Linked 79; Mrx79 57
Mental Retardation, X-Linked 16; Mrx16 57
X-Linked Mental Retardation 79 12
Mental Retardation X-Linked 16 75
Mental Retardation X-Linked 79 75
Mrxppm 75

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability-psychosis-macroorchidism syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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: 59  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked, Syndromic 13

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 with impaired language development. Other symptoms may include muscle stiffness (spasticity), exaggerated reflexes, and an abnormally small head (microcephaly). 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 or learning disabilities.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic 13, also known as mrxs13, is related to renpenning syndrome 1 and lubs x-linked mental retardation syndrome, and has symptoms including muscle spasticity, ataxia and seizures. An important gene associated with Mental Retardation, X-Linked, Syndromic 13 is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include testes, and related phenotypes are short neck and high palate

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.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3077Disease definitionThis 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).Visit the Orphanet disease page for more resources.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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

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:

57
Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly

Skeletal Feet:
pes cavus

Head And Neck Teeth:
bruxism

Head And Neck Ears:
large ears

Muscle Soft Tissue:
distal atrophy of the legs

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

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

Head And Neck Mouth:
high-arched palate
sialorrhea

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

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


muscle spasticity, ataxia, seizures, tremor

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

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic 13 29 MECP2

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

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

41
Testes

Publications for Mental Retardation, X-Linked, Syndromic 13

Articles related to Mental Retardation, X-Linked, Syndromic 13:

# Title Authors Year
1
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. ( 11885030 )
2002

Variations for Mental Retardation, X-Linked, Syndromic 13

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

75
# 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 top 50) (show all 95)
# 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.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh38 Chromosome X, 154031355: 154031355
3 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh37 Chromosome X, 153296471: 153296471
4 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh38 Chromosome X, 154031020: 154031020
5 MECP2 NM_004992.3(MECP2): c.1180G> T (p.Glu394Ter) single nucleotide variant Pathogenic rs63094662 GRCh37 Chromosome X, 153296099: 153296099
6 MECP2 NM_004992.3(MECP2): c.1180G> T (p.Glu394Ter) single nucleotide variant Pathogenic rs63094662 GRCh38 Chromosome X, 154030648: 154030648
7 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
8 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh38 Chromosome X, 154030948: 154030948
9 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh37 Chromosome X, 153296777: 153296777
10 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
11 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh38 Chromosome X, 154031409: 154031409
12 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
13 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh38 Chromosome X, 154030912: 154030912
14 MECP2 NM_004992.3(MECP2): c.410A> G (p.Glu137Gly) single nucleotide variant Pathogenic rs61748392 GRCh37 Chromosome X, 153296869: 153296869
15 MECP2 NM_004992.3(MECP2): c.410A> G (p.Glu137Gly) single nucleotide variant Pathogenic rs61748392 GRCh38 Chromosome X, 154031418: 154031418
16 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh38 Chromosome X, 154031326: 154031326
17 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh37 Chromosome X, 153296516: 153296516
18 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh38 Chromosome X, 154031065: 154031065
19 MECP2 MECP2, 240-BP DEL, NT1161 deletion Pathogenic
20 MECP2 NM_004992.3(MECP2): c.674C> T (p.Pro225Leu) single nucleotide variant Pathogenic rs61749715 GRCh37 Chromosome X, 153296605: 153296605
21 MECP2 NM_004992.3(MECP2): c.674C> T (p.Pro225Leu) single nucleotide variant Pathogenic rs61749715 GRCh38 Chromosome X, 154031154: 154031154
22 MECP2 NM_004992.3(MECP2): c.964C> T (p.Pro322Ser) single nucleotide variant Pathogenic rs61751449 GRCh37 Chromosome X, 153296315: 153296315
23 MECP2 NM_004992.3(MECP2): c.964C> T (p.Pro322Ser) single nucleotide variant Pathogenic rs61751449 GRCh38 Chromosome X, 154030864: 154030864
24 MECP2 NM_004992.3(MECP2): c.454C> G (p.Pro152Ala) single nucleotide variant Pathogenic rs179363900 GRCh37 Chromosome X, 153296825: 153296825
25 MECP2 NM_004992.3(MECP2): c.454C> G (p.Pro152Ala) single nucleotide variant Pathogenic rs179363900 GRCh38 Chromosome X, 154031374: 154031374
26 MECP2 NM_004992.3(MECP2): c.468C> G (p.Asp156Glu) single nucleotide variant Pathogenic rs61748408 GRCh37 Chromosome X, 153296811: 153296811
27 MECP2 NM_004992.3(MECP2): c.468C> G (p.Asp156Glu) single nucleotide variant Pathogenic rs61748408 GRCh38 Chromosome X, 154031360: 154031360
28 MECP2 NM_004992.3(MECP2): c.611C> G (p.Ser204Ter) single nucleotide variant Pathogenic rs61749724 GRCh37 Chromosome X, 153296668: 153296668
29 MECP2 NM_004992.3(MECP2): c.611C> G (p.Ser204Ter) single nucleotide variant Pathogenic rs61749724 GRCh38 Chromosome X, 154031217: 154031217
30 MECP2 NM_004992.3(MECP2): c.730C> T (p.Gln244Ter) single nucleotide variant Pathogenic rs61749747 GRCh37 Chromosome X, 153296549: 153296549
31 MECP2 NM_004992.3(MECP2): c.730C> T (p.Gln244Ter) single nucleotide variant Pathogenic rs61749747 GRCh38 Chromosome X, 154031098: 154031098
32 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh37 Chromosome X, 153296473: 153296473
33 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh38 Chromosome X, 154031022: 154031022
34 MECP2 NM_004992.3(MECP2): c.108_111delAGAA (p.Glu37Argfs) deletion Pathogenic rs267608426 GRCh37 Chromosome X, 153297924: 153297927
35 MECP2 NM_004992.3(MECP2): c.108_111delAGAA (p.Glu37Argfs) deletion Pathogenic rs267608426 GRCh38 Chromosome X, 154032473: 154032476
36 MECP2 NM_004992.3(MECP2): c.1135_1142delCCCGTGCC (p.Pro379Thrfs) deletion Pathogenic rs267608571 GRCh37 Chromosome X, 153296137: 153296144
37 MECP2 NM_004992.3(MECP2): c.1135_1142delCCCGTGCC (p.Pro379Thrfs) deletion Pathogenic rs267608571 GRCh38 Chromosome X, 154030686: 154030693
38 MECP2 NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs) deletion Pathogenic rs267608327 GRCh37 Chromosome X, 153296082: 153296122
39 MECP2 NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs) deletion Pathogenic rs267608327 GRCh38 Chromosome X, 154030631: 154030671
40 MECP2 NM_004992.3(MECP2): c.1159_1160delCCinsT (p.Pro387Serfs) indel Pathogenic rs267608590 GRCh37 Chromosome X, 153296119: 153296120
41 MECP2 NM_004992.3(MECP2): c.1159_1160delCCinsT (p.Pro387Serfs) indel Pathogenic rs267608590 GRCh38 Chromosome X, 154030668: 154030669
42 MECP2 NM_004992.3(MECP2): c.1162_1163delCCinsTA (p.Pro388Ter) indel Pathogenic rs267608597 GRCh37 Chromosome X, 153296116: 153296117
43 MECP2 NM_004992.3(MECP2): c.1162_1163delCCinsTA (p.Pro388Ter) indel Pathogenic rs267608597 GRCh38 Chromosome X, 154030665: 154030666
44 MECP2 NM_004992.3(MECP2): c.1164_1207del44 (p.Pro389Terfs) deletion Pathogenic rs61752992 GRCh37 Chromosome X, 153296072: 153296115
45 MECP2 NM_004992.3(MECP2): c.1164_1207del44 (p.Pro389Terfs) deletion Pathogenic rs61752992 GRCh38 Chromosome X, 154030621: 154030664
46 MECP2 NM_004992.3(MECP2): c.1216C> T (p.Gln406Ter) single nucleotide variant Pathogenic rs61753965 GRCh37 Chromosome X, 153296063: 153296063
47 MECP2 NM_004992.3(MECP2): c.1216C> T (p.Gln406Ter) single nucleotide variant Pathogenic rs61753965 GRCh38 Chromosome X, 154030612: 154030612
48 MECP2 NM_004992.3(MECP2): c.1415_1416delAG (p.Glu472Glyfs) deletion Pathogenic rs267608634 GRCh37 Chromosome X, 153295863: 153295864
49 MECP2 NM_004992.3(MECP2): c.1415_1416delAG (p.Glu472Glyfs) deletion Pathogenic rs267608634 GRCh38 Chromosome X, 154030412: 154030413
50 MECP2 NM_004992.3(MECP2): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs61748420 GRCh37 Chromosome X, 153296780: 153296780

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

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

# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 9.16 CDH15 DLG3
2 neuron projection GO:0043005 9.13 DLG3 GDI1 HNMT
3 cytosol GO:0005829 9.1 ARHGEF10 CDH15 DLG3 GDI1 HNMT MECP2

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

# 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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