MCID: MLS013
MIFTS: 28

Miles-Carpenter Syndrome

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:



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 skeletal muscle, and related phenotypes are hypogonadism and facial asymmetry

Related Diseases for Miles-Carpenter Syndrome

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

# Related Disease Score Top Affiliating Genes
1 wieacker-wolff syndrome 11.8
2 metachondromatosis 11.5
3 multiple chemical sensitivity 11.3
4 cryoglobulinemia, familial mixed 11.2
5 carpenter syndrome 1 10.2
6 clear cell adenofibroma 9.7 BRCA2 CA2
7 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.6 FOXE1 SHH
8 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 8.9 CA2 SHH
9 medulloblastoma 8.4 BRCA2 CDKN2B PAX3 SHH

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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypogonadism 32 frequent (33%) HP:0000135
2 facial asymmetry 32 frequent (33%) HP:0000324
3 microcornea 32 frequent (33%) HP:0000482
4 exotropia 32 hallmark (90%) HP:0000577
5 rocker bottom foot 32 frequent (33%) HP:0001838
6 skeletal muscle atrophy 32 frequent (33%) HP:0003202
7 joint hyperflexibility 32 frequent (33%) HP:0005692
8 abnormal dermatoglyphics 32 hallmark (90%) HP:0007477
9 intellectual disability, severe 32 frequent (33%) HP:0010864

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
Skeletal Muscle

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 regulation of transcription, DNA-templated GO:0006355 9.91 BRCA2 DACH1 DACH2 ESX1 FOXE1 NR1I2
2 positive regulation of transcription, DNA-templated GO:0045893 9.72 BRCA2 FOXE1 NR1I2 PAX3 SHH
3 multicellular organism development GO:0007275 9.7 DACH1 DACH2 NR1I2 PAX3 SHH SLC9C1
4 hair follicle morphogenesis GO:0031069 9.46 FOXE1 SHH
5 thyroid gland development GO:0030878 9.43 FOXE1 SHH
6 negative regulation of transcription by RNA polymerase II GO:0000122 9.43 DACH1 ESX1 FOXE1 NR1I2 SHH TDG
7 RNA polymerase II transcriptional preinitiation complex assembly GO:0051123 9.4 DACH1 DACH2
8 spinal cord motor neuron differentiation GO:0021522 9.37 SHH ZC4H2
9 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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