MRXS13
MCID: MNT135
MIFTS: 49

Mental Retardation, X-Linked, Syndromic 13 (MRXS13)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 29 13 6 70
Mrxs13 57 12 20 43 72
Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism 57 12 70
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome 12 58 15
Ppm-X Syndrome 20 43 70
Ppmx 57 43 72
Mental Retardation, X-Linked 79 57 70
Mental Retardation, X-Linked 16 57 70
Lindsay-Burn Syndrome 12 58
Mrx79 57 72
Mrx16 57 72
Ppm-X 12 58
Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism; Ppmx 57
Mental Retardation X-Linked with Psychosis-Pyramidal Signs-Macroorchidism 72
Intellectual Deficit, X-Linked - Psychosis - Macroorchidism 20
Mental Retardation X-Linked with Progressive Spasticity 72
Non-Specific X-Linked Mental Retardation Type 16 72
Mental Retardation, X-Linked, Syndromic, Type 13 39
Mental Retardation, X-Linked, with Spasticity 57
X-Linked Mental Retardation with Spasticity 12
Mental Retardation, X-Linked, Syndromic, 13 72
X-Linked Mental Retardation, Syndromic 13 43
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 72
Mental Retardation X-Linked 79 72
Mrxppm 72

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-psychosis-macroorchidism syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
mental retardation, x-linked, syndromic 13:
Onset and clinical course slow progression
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked, Syndromic 13

MedlinePlus Genetics : 43 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 mecp2-related severe neonatal encephalopathy and developmental and epileptic encephalopathy 8, and has symptoms including seizures, ataxia and tremor. An important gene associated with Mental Retardation, X-Linked, Syndromic 13 is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Neuroscience and Nuclear Receptor transcription pathway. Affiliated tissues include testes and heart, and related phenotypes are sleep disturbance and macroorchidism

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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3077 Definition An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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

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

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
2 macroorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000053
3 irritability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000737
4 aggressive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000718
5 hyperactive deep tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0006801
6 hyperactivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000752
7 seizure 31 hallmark (90%) HP:0001250
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
10 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
11 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
12 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
13 bipolar affective disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007302
14 lower limb spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002061
15 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
16 focal eeg discharges with secondary generalization 58 31 frequent (33%) Frequent (79-30%) HP:0011188
17 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
18 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
19 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
20 broad-based gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002136
21 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
22 shuffling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002362
23 resting tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002322
24 abnormal fear/anxiety-related behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100852
25 stooped posture 58 31 occasional (7.5%) Occasional (29-5%) HP:0025403
26 tremor 58 31 Frequent (79-30%) HP:0001337
27 seizures 58 Very frequent (99-80%)
28 hyperreflexia 31 HP:0001347
29 eeg abnormality 31 HP:0002353
30 ataxia 31 HP:0001251
31 high palate 31 HP:0000218
32 short neck 31 HP:0000470
33 global developmental delay 31 HP:0001263
34 macrotia 31 HP:0000400
35 abnormality of the dentition 31 HP:0000164
36 delayed speech and language development 31 HP:0000750
37 microcephaly 31 HP:0000252
38 intellectual disability, mild 31 HP:0001256
39 micrognathia 31 HP:0000347
40 pes cavus 31 HP:0001761
41 psychosis 31 HP:0000709
42 babinski sign 31 HP:0003487
43 choreoathetosis 31 HP:0001266
44 excessive salivation 31 HP:0003781
45 spastic gait 31 HP:0002064
46 drooling 31 HP:0002307
47 bruxism 31 HP:0003763
48 facial hypotonia 31 HP:0000297
49 abnormal aggressive, impulsive or violent behavior 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
ataxia
tremor
more
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

Head And Neck Neck:
short neck

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 (Updated 05-Apr-2021)

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


seizures; ataxia; tremor; muscle spasticity

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.23 GDI1 GPR50 ISL1 KCNAB2 LHX8 MECP2

MGI Mouse Phenotypes related to Mental Retardation, X-Linked, Syndromic 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 CALB1 ESRRG GPR50 ISL1 KCNAB2 MECP2
2 nervous system MP:0003631 9.36 CALB1 EMC3 EPHA8 GDI1 ISL1 KCNAB2

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Carbon Monoxide Therapy for Severe Pulmonary Arterial Hypertension Withdrawn NCT01523548 Phase 1, Phase 2 Carbon Monoxide
2 Phase 1b Safety Trial for S-Nitrosylation Therapy to Treat COVID-19 Induced Respiratory Distress Not yet recruiting NCT04528771 Phase 1 SNO;Nitrogen gas

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:

# 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:

40
Testes, Heart

Publications for Mental Retardation, X-Linked, Syndromic 13

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

(show all 41)
# Title Authors PMID Year
1
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. 6 57 61
11885030 2002
2
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. 6 57
14598336 2003
3
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 6 57
12615169 2003
4
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? 6 57
12325019 2002
5
A Rett syndrome MECP2 mutation that causes mental retardation in men. 6 57
11805248 2002
6
In-frame deletion in MECP2 causes mild nonspecific mental retardation. 6 57
11807877 2002
7
MECP2 is highly mutated in X-linked mental retardation. 6 57
11309367 2001
8
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 57 6
10986043 2000
9
MECP2 mutation in male patients with non-specific X-linked mental retardation. 57 6
11007980 2000
10
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family. 6 57
10232754 1999
11
X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies. 57 6
9377804 1997
12
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). 6
23810759 2013
13
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. 6
23262346 2013
14
Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 6
22497713 2012
15
Genetic and epileptic features in Rett syndrome. 6
22476991 2012
16
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. 6
21878110 2011
17
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. 6
20479760 2011
18
Variable phenotypic expression of a MECP2 mutation in a family. 6
20151026 2009
19
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. 6
18989701 2009
20
MECP2 mutations in males. 57
17351020 2007
21
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males. 6
17084570 2007
22
Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation. 6
17383248 2007
23
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 6
17387578 2007
24
A novel familial MECP2 mutation in a young boy: clinical and molecular findings. 6
16966553 2006
25
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 6
15558314 2005
26
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. 6
15526954 2004
27
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. 6
14560307 2004
28
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. 6
12081720 2002
29
MECP2 mutation in a boy with language disorder and schizophrenia. 6
11772708 2002
30
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. 6
11376998 2001
31
MeCP2 mutations in children with and without the phenotype of Rett syndrome. 6
11402105 2001
32
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 6
11269512 2001
33
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 6
11055898 2000
34
Functional consequences of Rett syndrome mutations on human MeCP2. 6
11058114 2000
35
Two affected boys in a Rett syndrome family: clinical and molecular findings. 6
11071498 2000
36
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 6
10577905 1999
37
PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. 57
8651288 1996
38
Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity. 61
27465203 2016
39
Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation. 61
20163734 2010
40
MECP2 Disorders 61
20301670 2001
41
A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. 61
9222958 1997

Variations for Mental Retardation, X-Linked, Syndromic 13

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

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MECP2 NC_000023.10:g.(?_153287264)_(153363188_?)dup Duplication Pathogenic 417368 GRCh37: X:153287264-153363188
GRCh38:
2 MECP2 NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) SNV Pathogenic 11817 rs63094662 GRCh37: X:153296099-153296099
GRCh38: X:154030648-154030648
3 MECP2 NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) SNV Pathogenic 11825 rs61748392 GRCh37: X:153296869-153296869
GRCh38: X:154031418-154031418
4 MECP2 NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) SNV Pathogenic 11841 rs61749715 GRCh37: X:153296605-153296605
GRCh38: X:154031154-154031154
5 MECP2 NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) Deletion Pathogenic 143342 rs267608571 GRCh37: X:153296137-153296144
GRCh38: X:154030686-154030693
6 MECP2 MECP2, 240-BP DEL, NT1161 Deletion Pathogenic 11830 GRCh37:
GRCh38:
7 MECP2 NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) Indel Pathogenic 143395 rs267608597 GRCh37: X:153296116-153296117
GRCh38: X:154030665-154030666
8 MECP2 NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs) Indel Pathogenic 143379 rs267608590 GRCh37: X:153296119-153296120
GRCh38: X:154030668-154030669
9 MECP2 NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) Deletion Pathogenic 143406 rs61752992 GRCh37: X:153296072-153296115
GRCh38: X:154030621-154030664
10 MECP2 NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) SNV Pathogenic 143441 rs61753965 GRCh37: X:153296063-153296063
GRCh38: X:154030612-154030612
11 MECP2 NM_001110792.2(MECP2):c.1447_1448AG[2] (p.Glu484fs) Microsatellite Pathogenic 143474 rs267608634 GRCh37: X:153295863-153295864
GRCh38: X:154030412-154030413
12 MECP2 NM_001110792.2(MECP2):c.1147dup (p.His383fs) Duplication Pathogenic 375620 rs1057519404 GRCh37: X:153296167-153296168
GRCh38: X:154030716-154030717
13 MECP2 NM_001110792.2(MECP2):c.140_143AGAA[1] (p.Glu49fs) Microsatellite Pathogenic 143328 rs267608426 GRCh37: X:153297924-153297927
GRCh38: X:154032473-154032476
14 MECP2 NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) SNV Pathogenic 11819 rs61751362 GRCh37: X:153296399-153296399
GRCh38: X:154030948-154030948
15 MECP2 NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) Deletion Pathogenic 143369 rs267608327 GRCh37: X:153296082-153296122
GRCh38: X:154030631-154030671
16 MECP2 NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) Deletion Pathogenic 189648 rs1557135315 GRCh37: X:153296078-153296178
GRCh38: X:154030627-154030727
17 MECP2 NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) Deletion Pathogenic 143406 rs61752992 GRCh37: X:153296072-153296115
GRCh38: X:154030621-154030664
18 MECP2 NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) SNV Pathogenic 11843 rs61751449 GRCh37: X:153296315-153296315
GRCh38: X:154030864-154030864
19 MECP2 NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) SNV Pathogenic 143749 rs61751444 GRCh37: X:153296354-153296354
GRCh38: X:154030903-154030903
20 MECP2 NM_001110792.2(MECP2):c.842del (p.Gly281fs) Deletion Pathogenic 95202 rs61750241 GRCh37: X:153296473-153296473
GRCh38: X:154031022-154031022
21 MECP2 NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) SNV Pathogenic 11823 rs28934908 GRCh37: X:153296860-153296860
GRCh38: X:154031409-154031409
22 MECP2 NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) SNV Pathogenic 11844 rs179363900 GRCh37: X:153296825-153296825
GRCh38: X:154031374-154031374
23 MECP2 NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) SNV Pathogenic 11829 rs61749721 GRCh37: X:153296516-153296516
GRCh38: X:154031065-154031065
24 MECP2 NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) SNV Pathogenic 11809 rs28934904 GRCh37: X:153296882-153296882
GRCh38: X:154031431-154031431
25 MECP2 NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) SNV Pathogenic 11829 rs61749721 GRCh37: X:153296516-153296516
GRCh38: X:154031065-154031065
26 MECP2 NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) SNV Pathogenic 11811 rs28934906 GRCh37: X:153296806-153296806
GRCh38: X:154031355-154031355
27 MECP2 NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) SNV Pathogenic 11844 rs179363900 GRCh37: X:153296825-153296825
GRCh38: X:154031374-154031374
28 MECP2 NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) SNV Pathogenic 11823 rs28934908 GRCh37: X:153296860-153296860
GRCh38: X:154031409-154031409
29 MECP2 NM_001110792.2(MECP2):c.842del (p.Gly281fs) Deletion Pathogenic 95202 rs61750241 GRCh37: X:153296473-153296473
GRCh38: X:154031022-154031022
30 MECP2 NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) SNV Pathogenic 11815 rs61750240 GRCh37: X:153296471-153296471
GRCh38: X:154031020-154031020
31 MECP2 NM_001110792.2(MECP2):c.1173del (p.Val392fs) Deletion Likely pathogenic 536579 rs1557135793 GRCh37: X:153296142-153296142
GRCh38: X:154030691-154030691
32 MECP2 NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) SNV Uncertain significance 188500 rs786204313 GRCh37: X:153296266-153296266
GRCh38: X:154030815-154030815
33 MECP2 NM_001110792.2(MECP2):c.991G>A (p.Val331Met) SNV Uncertain significance 625979 rs1569548388 GRCh37: X:153296324-153296324
GRCh38: X:154030873-154030873
34 MECP2 NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) SNV Uncertain significance 143344 rs267608572 GRCh37: X:153296141-153296141
GRCh38: X:154030690-154030690
35 MECP2 NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) SNV Uncertain significance 143606 rs61748426 GRCh37: X:153296765-153296765
GRCh38: X:154031314-154031314
36 MECP2 NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu) SNV Uncertain significance 143656 rs61749737 GRCh37: X:153296600-153296600
GRCh38: X:154031149-154031149
37 MECP2 NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu) SNV Uncertain significance 143712 rs61750255 GRCh37: X:153296429-153296429
GRCh38: X:154030978-154030978
38 MECP2 NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) SNV Uncertain significance 36495 rs61751439 GRCh37: X:153296370-153296370
GRCh38: X:154030919-154030919
39 MECP2 NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) SNV Uncertain significance 36496 rs61751445 GRCh37: X:153296347-153296347
GRCh38: X:154030896-154030896
40 MECP2 NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) Deletion Uncertain significance 189754 rs1557134946 GRCh37: X:153295879-153296118
GRCh38: X:154030428-154030667
41 MECP2 NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs) Deletion Uncertain significance 189757 rs786205036 GRCh37: X:153296036-153296046
GRCh38: X:154030585-154030595
42 MECP2 NM_004992.3(MECP2):c.377+24C>A SNV Uncertain significance 156055 rs267608462 GRCh37: X:153297634-153297634
GRCh38: X:154032183-154032183
43 MECP2 NM_004992.3(MECP2):c.378-61C>G SNV Uncertain significance 156070 rs191076920 GRCh37: X:153296962-153296962
GRCh38: X:154031511-154031511
44 MECP2 NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del) Microsatellite Uncertain significance 156657 rs398123566 GRCh37: X:153363100-153363105
GRCh38: X:154097643-154097648
45 MECP2 NM_001110792.2(MECP2):c.-31AG[2] Microsatellite Uncertain significance 156656 rs587783128 GRCh37: X:153363148-153363149
GRCh38: X:154097691-154097692
46 MECP2 NM_001110792.2(MECP2):c.-27_-26delinsTT Indel Uncertain significance 189766 rs786205039 GRCh37: X:153363148-153363149
GRCh38: X:154097691-154097692
47 MECP2 NM_004992.4(MECP2):c.-212_-205= Microsatellite Uncertain significance 189769 rs782107551 GRCh37: X:153363167-153363168
GRCh38: X:154097710-154097711
48 MECP2 NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) SNV Uncertain significance 189774 rs786205046 GRCh37: X:153363074-153363074
GRCh38: X:154097617-154097617
49 MECP2 NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln) SNV Uncertain significance 143468 rs61753980 GRCh37: X:153295921-153295921
GRCh38: X:154030470-154030470
50 MECP2 NM_004992.3:c.(?_-226)_(*1_?)dup Duplication Uncertain significance 189758 GRCh37:
GRCh38:

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

72
# 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

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

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

# Super pathways Score Top Affiliating Genes
1 11.79 RBFOX3 MECP2 GPR50 CALB1
2
Show member pathways
10.75 NR2F2 NR2E3 ESRRG

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 nucleus GO:0005634 9.93 ZNF526 VSX2 RBFOX3 OSR2 NR2F2 NR2E3
2 neuron projection GO:0043005 9.26 KCNAB2 GDI1 EPHA8 CALB1
3 chromatin GO:0000785 9.17 VSX2 NR2F2 NR2E3 MXI1 LHX8 ISL1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.63 OSR2 NR2F2 NR2E3 MECP2 ISL1 ESRRG
2 neuron differentiation GO:0030182 9.54 MECP2 LHX8 ISL1
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.5 NR2E3 MECP2 ESRRG
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.5 VSX2 OSR2 NR2F2 NR2E3 MXI1 MECP2
5 long-term memory GO:0007616 9.4 MECP2 CALB1
6 regulation of transcription by RNA polymerase II GO:0006357 9.32 ZNF526 VSX2 OSR2 NR2F2 NR2E3 MXI1
7 steroid hormone mediated signaling pathway GO:0043401 9.26 NR2E3 ESRRG

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.88 ZNF526 NR2F2 NR2E3 MXI1 ISL1 ESRRG
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.87 ZNF526 VSX2 OSR2 MXI1 LHX8 ISL1
3 sequence-specific double-stranded DNA binding GO:1990837 9.77 VSX2 OSR2 LHX8 ISL1 ESRRG
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.76 OSR2 NR2E3 ISL1 ESRRG
5 sequence-specific DNA binding GO:0043565 9.65 OSR2 NR2F2 NR2E3 ISL1 ESRRG
6 steroid hormone receptor activity GO:0003707 9.43 NR2E3 ESRRG
7 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.35 VSX2 OSR2 MXI1 LHX8 ESRRG
8 nuclear receptor activity GO:0004879 9.33 NR2F2 NR2E3 ESRRG
9 DNA binding GO:0003677 9.32 ZNF526 VSX2 RBFOX3 NR2F2 NR2E3 MXI1

Sources for Mental Retardation, X-Linked, Syndromic 13

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
Content
Loading form....