MCS
MCID: MLS013
MIFTS: 33

Miles-Carpenter Syndrome (MCS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Miles-Carpenter Syndrome

MalaCards integrated aliases for Miles-Carpenter Syndrome:

Name: Miles-Carpenter Syndrome 12 6 15
Miles-Carpenter X-Linked Mental Retardation Syndrome 44 70
Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches 12
X-Linked Intellectual Disability, Miles-Carpenter Type 12
Mental Retardation, X-Linked, Syndromic 4 12
Mrxs4 12
Mcs 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060815
MeSH 44 C537472
UMLS 70 C1839735

Summaries for Miles-Carpenter Syndrome

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has material basis in variation in chromosomal region Xq13-q22.

MalaCards based summary : Miles-Carpenter Syndrome, also known as miles-carpenter x-linked mental retardation syndrome, is related to wieacker-wolff syndrome and hirschsprung disease 1. An important gene associated with Miles-Carpenter Syndrome is ZC4H2 (Zinc Finger C4H2-Type Containing), and among its related pathways/superpathways are MECP2 and Associated Rett Syndrome and Cytosine methylation. Affiliated tissues include skeletal muscle, and related phenotypes are abnormal dermatoglyphics and exotropia

Related Diseases for Miles-Carpenter Syndrome

Diseases related to Miles-Carpenter Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 wieacker-wolff syndrome 11.9
2 hirschsprung disease 1 11.1
3 multiple chemical sensitivity 11.1
4 mast-cell leukemia 11.1
5 somatization disorder 10.2
6 ocular motor apraxia 10.1
7 leukemia 10.1
8 carpenter syndrome 1 10.1
9 leukemia, acute lymphoblastic 10.1
10 acute monoblastic leukemia 10.0
11 cardiogenic shock 10.0
12 atherosclerosis susceptibility 9.9
13 cryoglobulinemia, familial mixed 9.9
14 alpha-thalassemia 9.9
15 leukemia, chronic myeloid 9.9
16 hemoglobin h disease 9.9
17 exanthem 9.9
18 allergic disease 9.9
19 psychotic disorder 9.9
20 cryoglobulinemia 9.9
21 chronic fatigue syndrome 9.9
22 myeloid leukemia 9.9
23 precursor t-cell acute lymphoblastic leukemia 9.9
24 amyotrophic lateral sclerosis 1 9.8
25 burkitt lymphoma 9.8
26 hypercholesterolemia, familial, 1 9.8
27 leukemia, chronic lymphocytic 9.8
28 papillomatosis, confluent and reticulated 9.8
29 prostate cancer 9.8
30 chondrosarcoma 9.8
31 lymphoma, hodgkin, classic 9.8
32 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
33 mycosis fungoides 9.8
34 myeloma, multiple 9.8
35 chudley-mccullough syndrome 9.8
36 lymphoma, non-hodgkin, familial 9.8
37 allergic rhinitis 9.8
38 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
39 proteinuria, chronic benign 9.8
40 lymphoplasmacytic lymphoma 9.8
41 sleep apnea 9.8
42 alexithymia 9.8
43 cardiac arrest 9.8
44 b-lymphoblastic leukemia/lymphoma 9.8
45 rapidly involuting congenital hemangioma 9.8
46 psoriasis 15 9.8
47 respiratory failure 9.8
48 tetanus 9.8
49 diphtheria 9.8
50 cardiac tamponade 9.8

Graphical network of the top 20 diseases related to Miles-Carpenter Syndrome:



Diseases related to Miles-Carpenter Syndrome

Symptoms & Phenotypes for Miles-Carpenter Syndrome

Human phenotypes related to Miles-Carpenter Syndrome:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 abnormal dermatoglyphics 31 hallmark (90%) HP:0007477
2 exotropia 31 hallmark (90%) HP:0000577
3 intellectual disability, severe 31 frequent (33%) HP:0010864
4 skeletal muscle atrophy 31 frequent (33%) HP:0003202
5 facial asymmetry 31 frequent (33%) HP:0000324
6 joint hyperflexibility 31 frequent (33%) HP:0005692
7 microcornea 31 frequent (33%) HP:0000482
8 rocker bottom foot 31 frequent (33%) HP:0001838
9 hypogonadism 31 frequent (33%) HP:0000135

Drugs & Therapeutics for Miles-Carpenter Syndrome

Search Clinical Trials , NIH Clinical Center for Miles-Carpenter Syndrome

Cochrane evidence based reviews: miles-carpenter x-linked mental retardation syndrome

Genetic Tests for Miles-Carpenter Syndrome

Anatomical Context for Miles-Carpenter Syndrome

MalaCards organs/tissues related to Miles-Carpenter Syndrome:

40
Skeletal Muscle

Publications for Miles-Carpenter Syndrome

Articles related to Miles-Carpenter Syndrome:

# Title Authors PMID Year
1
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. 6 61
26056227 2015
2
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. 6
31206972 2019
3
ZC4H2 stabilizes Smads to enhance BMP signalling, which is involved in neural development in Xenopus. 6
28814648 2017
4
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. 6
23623388 2013
5
A family with severe X-linked arthrogryposis. 6
1915520 1991
6
Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31. 6
2018061 1991
7
A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. 6
4039531 1985
8
ZC4H2 deletions can cause severe phenotype in female carriers. 61
28345801 2017
9
Characterization of mouse Dach2, a homologue of Drosophila dachshund. 61
11287190 2001
10
Refined gene localization for the Miles-Carpenter syndrome (MCS) 61
10398232 1999

Variations for Miles-Carpenter Syndrome

ClinVar genetic disease variations for Miles-Carpenter Syndrome:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZC4H2 NM_018684.4(ZC4H2):c.187G>C (p.Val63Leu) SNV Pathogenic 50980 rs398122938 GRCh37: X:64141735-64141735
GRCh38: X:64921855-64921855
2 ZC4H2 NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser) SNV Pathogenic 50982 rs398122939 GRCh37: X:64137737-64137737
GRCh38: X:64917857-64917857
3 ZC4H2 NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp) SNV Pathogenic 50983 rs879255236 GRCh37: X:64137701-64137701
GRCh38: X:64917821-64917821
4 ZC4H2 NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys) SNV Pathogenic 378045 rs1057520299 GRCh37: X:64196205-64196205
GRCh38: X:64976325-64976325
5 ZC4H2 Deletion Pathogenic 598761 GRCh37: X:64171841-64267316
GRCh38:
6 ZC4H2 NM_018684.4(ZC4H2):c.650A>G (p.Lys217Arg) SNV Pathogenic 834097 GRCh37: X:64137688-64137688
GRCh38: X:64917808-64917808
7 ZC4H2 NM_018684.4(ZC4H2):c.576del (p.His193fs) Deletion Pathogenic 930303 GRCh37: X:64137762-64137762
GRCh38: X:64917882-64917882
8 ZC4H2 NM_018684.4(ZC4H2):c.598G>A (p.Ala200Thr) SNV Pathogenic 930963 GRCh37: X:64137740-64137740
GRCh38: X:64917860-64917860
9 ZC4H2 NM_018684.4(ZC4H2):c.22_23del (p.Met8fs) Deletion Pathogenic 488641 rs1555945816 GRCh37: X:64196235-64196236
GRCh38: X:64976355-64976356
10 ZC4H2 NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln) SNV Pathogenic 50981 rs879255235 GRCh37: X:64137745-64137745
GRCh38: X:64917865-64917865
11 ZC4H2 NM_018684.4(ZC4H2):c.225+5G>A SNV Pathogenic 378044 rs1057520298 GRCh37: X:64141692-64141692
GRCh38: X:64921812-64921812
12 ZC4H2 NM_018684.4(ZC4H2):c.427C>T (p.Gln143Ter) SNV Pathogenic 548020 rs1260869746 GRCh37: X:64139056-64139056
GRCh38: X:64919176-64919176
13 ZC4H2 NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter) SNV Pathogenic 689619 rs1602379828 GRCh37: X:64139071-64139071
GRCh38: X:64919191-64919191
14 ZC4H2 NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs) Deletion Pathogenic 977161 GRCh37: X:64140113-64140116
GRCh38: X:64920233-64920236
15 ZC4H2 NM_018684.4(ZC4H2):c.197T>A (p.Leu66His) SNV Pathogenic 378042 rs1057520297 GRCh37: X:64141725-64141725
GRCh38: X:64921845-64921845
16 ZC4H2 NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) SNV Pathogenic/Likely pathogenic 429826 rs1131691616 GRCh37: X:64141723-64141723
GRCh38: X:64921843-64921843
17 ZC4H2 NM_018684.4(ZC4H2):c.53+10513C>T SNV Likely pathogenic 977759 GRCh37: X:64185692-64185692
GRCh38: X:64965812-64965812
18 ZC4H2 NM_018684.4(ZC4H2):c.375_377AGA[1] (p.Glu128del) Microsatellite Likely pathogenic 522752 rs750367160 GRCh37: X:64139979-64139981
GRCh38: X:64920099-64920101
19 ZC4H2 NM_018684.4(ZC4H2):c.535_538dup (p.Arg180fs) Duplication Likely pathogenic 986368 GRCh37: X:64138944-64138945
GRCh38: X:64919064-64919065
20 ZC4H2 NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) SNV Likely pathogenic 432364 rs137962226 GRCh37: X:64137746-64137746
GRCh38: X:64917866-64917866
21 ZC4H2 NM_018684.4(ZC4H2):c.561+7G>A SNV Uncertain significance 982608 GRCh37: X:64138915-64138915
GRCh38: X:64919035-64919035
22 ZC4H2 NM_018684.4(ZC4H2):c.170A>C (p.Gln57Pro) SNV Uncertain significance 931012 GRCh37: X:64141752-64141752
GRCh38: X:64921872-64921872
23 ZC4H2 NM_018684.4(ZC4H2):c.561G>T (p.Lys187Asn) SNV Uncertain significance 930316 GRCh37: X:64138922-64138922
GRCh38: X:64919042-64919042
24 ZC4H2 NM_018684.4(ZC4H2):c.54-1G>A SNV not provided 585201 rs1569201245 GRCh37: X:64141869-64141869
GRCh38: X:64921989-64921989

Expression for Miles-Carpenter Syndrome

Search GEO for disease gene expression data for Miles-Carpenter Syndrome.

Pathways for Miles-Carpenter Syndrome

Pathways related to Miles-Carpenter Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.92 TET3 TET2 TET1
2
Show member pathways
10.04 TET3 TET2 TET1 TDG

GO Terms for Miles-Carpenter Syndrome

Cellular components related to Miles-Carpenter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 female pronucleus GO:0001939 8.96 TET3 DPPA3
2 male pronucleus GO:0001940 8.62 TET3 DPPA3

Biological processes related to Miles-Carpenter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.65 TET3 TET2 TET1 TDG DPPA3
2 protein O-linked glycosylation GO:0006493 9.5 TET3 TET2 TET1
3 RNA export from nucleus GO:0006405 9.43 NUP62CL CHTOP
4 histone H3-K4 trimethylation GO:0080182 9.4 TET3 TET2
5 positive regulation of histone methylation GO:0031062 9.37 TET1 CHTOP
6 oxidative demethylation GO:0070989 9.33 TET3 TET2 TET1
7 5-methylcytosine catabolic process GO:0006211 9.13 TET3 TET2 TET1
8 DNA demethylation GO:0080111 8.92 TET3 TET2 TET1 TDG

Molecular functions related to Miles-Carpenter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dioxygenase activity GO:0051213 9.33 TET3 TET2 TET1
2 methylcytosine dioxygenase activity GO:0070579 9.13 TET3 TET2 TET1
3 methyl-CpG binding GO:0008327 8.92 TET3 TET1 CXXC4 CHTOP

Sources for Miles-Carpenter Syndrome

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
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