MCS
MCID: MLS013
MIFTS: 26

Miles-Carpenter Syndrome (MCS)

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Miles-Carpenter Syndrome

MalaCards integrated aliases for Miles-Carpenter Syndrome:

Name: Miles-Carpenter Syndrome 12 13 15
Miles-Carpenter X-Linked Mental Retardation Syndrome 44 73
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 73 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 metachondromatosis. An important gene associated with Miles-Carpenter Syndrome is ZC4H2 (Zinc Finger C4H2-Type Containing). Affiliated tissues include prostate and thyroid, and related phenotype is homeostasis/metabolism.

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 77)
# Related Disease Score Top Affiliating Genes
1 wieacker-wolff syndrome 12.0
2 metachondromatosis 11.7
3 multiple chemical sensitivity 11.5
4 cryoglobulinemia, familial mixed 11.4
5 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 11.2
6 perrault syndrome 1 11.1
7 congenital contractures 11.1
8 molluscum contagiosum 11.1
9 mixed cryoglobulinemia type iii 11.0
10 type ii mixed cryoglobulinemia 11.0
11 neuroblastoma 10.5
12 carpenter syndrome 1 10.3
13 mycobacterium chelonae 10.1
14 psoriasis 2 10.1
15 psoriasis 7 10.1
16 psoriasis 11 10.1
17 psoriasis 13 10.1
18 psoriasis 10.1
19 deafness, autosomal dominant 10 10.0 DACH1 PAX3
20 multiple sclerosis 10.0
21 premature chromatid separation trait 10.0
22 retinoblastoma 10.0
23 frasier syndrome 9.9
24 prostate cancer 9.9
25 rheumatoid arthritis 9.9
26 cryoglobulinemia 9.9
27 glioblastoma 9.9
28 hypoxia 9.9
29 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.9 FOXE1 SHH
30 clear cell adenofibroma 9.9 BRCA2 CA2
31 glioma susceptibility 1 9.8
32 hirschsprung disease 1 9.8
33 pallister-hall syndrome 9.8
34 pneumothorax, primary spontaneous 9.8
35 glycogen storage disease v 9.8
36 insulin-like growth factor i 9.8
37 thymoma, familial 9.8
38 choroideremia 9.8
39 kearns-sayre syndrome 9.8
40 d-2-hydroxyglutaric aciduria 1 9.8
41 horns in sheep 9.8
42 polydactyly 9.8
43 late-onset retinal degeneration 9.8
44 human immunodeficiency virus type 1 9.8
45 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria 9.8
46 hyperprolactinemia 9.8
47 deficiency anemia 9.8
48 glycogen storage disease 9.8
49 hemolytic anemia 9.8
50 spinal stenosis 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

MGI Mouse Phenotypes related to Miles-Carpenter Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 BRCA2 CA2 CDKN2B COL18A1 DACH1 FOXE1

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:

41
Prostate, Thyroid

Publications for Miles-Carpenter Syndrome

Articles related to Miles-Carpenter Syndrome:

# Title Authors Year
1
Refined gene localization for the Miles-Carpenter syndrome (MCS) ( 10398232 )
1999

Variations for Miles-Carpenter Syndrome

Expression for Miles-Carpenter Syndrome

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

Pathways for Miles-Carpenter Syndrome

GO Terms for Miles-Carpenter Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.88 DACH1 ESX1 FOXE1 SHH TDG
2 regulation of transcription, DNA-templated GO:0006355 9.7 DACH1 DACH2 ESX1 FOXE1 NR1I2 PAX3
3 positive regulation of transcription, DNA-templated GO:0045893 9.65 BRCA2 FOXE1 NR1I2 PAX3 SHH
4 multicellular organism development GO:0007275 9.5 DACH1 DACH2 NR1I2 PAX3 SHH SLC9C1
5 regulation of intracellular pH GO:0051453 9.46 CA2 SLC9C1
6 hair follicle morphogenesis GO:0031069 9.43 FOXE1 SHH
7 thyroid gland development GO:0030878 9.4 FOXE1 SHH
8 RNA polymerase II preinitiation complex assembly GO:0051123 9.37 DACH1 DACH2
9 spinal cord motor neuron differentiation GO:0021522 9.32 SHH ZC4H2
10 development of primary female sexual characteristics GO:0046545 8.62 DACH1 DACH2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.56 BRCA2 DACH1 DACH2 ESX1 FOXE1 NR1I2
2 transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly GO:0001075 8.62 DACH1 DACH2

Sources for Miles-Carpenter Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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