MDK
MCID: MSM016
MIFTS: 25

Mesomelic Dysplasia, Kantaputra Type (MDK) malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Mesomelic Dysplasia, Kantaputra Type

About this section
Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Mesomelic Dysplasia, Kantaputra Type:

Name: Mesomelic Dysplasia, Kantaputra Type 52 54 12 68
Kantaputra Mesomelic Dysplasia 48 54 27
Mdk 48 54
Mesomelic Dysplasia with Ankle Carpal and Tarsal Synostosis 48
 
Mesomelic Dysplasia Kantaputra Type 48
Mesomelic Dysplasia, Thai Type 54
Mesomelic Dysplasia Thai Type 48
Mmdk 48

Characteristics:

Orphanet epidemiological data:

54
mesomelic dysplasia, kantaputra type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
mesomelic dysplasia, kantaputra type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 156232
Orphanet54 ORPHA1836
UMLS via Orphanet69 C1835009
ICD10 via Orphanet31 Q78.8
MESH via Orphanet40 C535547

Summaries for Mesomelic Dysplasia, Kantaputra Type

About this section
OMIM:52 Kantaputra mesomelic dysplasia (MMDK) is a rare, autosomal dominant skeletal disease characterized by symmetric marked... (156232) more...

MalaCards based summary: Mesomelic Dysplasia, Kantaputra Type, also known as kantaputra mesomelic dysplasia, is related to epilepsy, familial temporal lobe, 4 and critical illness polyneuropathy, and has symptoms including Array, Array and Array. An important gene associated with Mesomelic Dysplasia, Kantaputra Type is MMDK (Mesomelic Dysplasia, Kantaputra Type). Affiliated tissues include bone.

Related Diseases for Mesomelic Dysplasia, Kantaputra Type

About this section

Diseases related to Mesomelic Dysplasia, Kantaputra Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1epilepsy, familial temporal lobe, 410.8
2critical illness polyneuropathy10.8
3synesthesia9.8MMDK, SHOX
4lung cancer9.8
5glioma9.8

Graphical network of diseases related to Mesomelic Dysplasia, Kantaputra Type:



Diseases related to mesomelic dysplasia, kantaputra type

Symptoms & Phenotypes for Mesomelic Dysplasia, Kantaputra Type

About this section

Symptoms by clinical synopsis from OMIM:

156232

Clinical features from OMIM:

156232

Human phenotypes related to Mesomelic Dysplasia, Kantaputra Type:

 54 64 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ribs64 54 Occasional (29-5%) HP:0000772
2 talipes64 54 Occasional (29-5%) HP:0001883
3 cubitus valgus64 54 Occasional (29-5%) HP:0002967
4 abnormality of the fibula64 54 Very frequent (99-80%) HP:0002991
5 mesomelia64 54 Very frequent (99-80%) HP:0003027
6 abnormality of the ankles64 54 Very frequent (99-80%) HP:0003028
7 abnormality of the humerus64 54 Very frequent (99-80%) HP:0003063
8 vertebral segmentation defect64 54 Occasional (29-5%) HP:0003422
9 clinodactyly of the 5th finger64 54 Frequent (79-30%) HP:0004209
10 short stature64 54 Very frequent (99-80%) HP:0004322
11 dumbbell-shaped humerus64 54 Very frequent (99-80%) HP:0005009
12 synostosis of carpal bones64 54 Frequent (79-30%) HP:0005048
13 tarsal synostosis64 54 Very frequent (99-80%) HP:0008368
14 ulnar deviation of finger64 54 Frequent (79-30%) HP:0009465
15 camptodactyly of finger64 54 Very frequent (99-80%) HP:0100490
16 radial bowing64 HP:0002986
17 carpal synostosis64 HP:0009702

Drugs & Therapeutics for Mesomelic Dysplasia, Kantaputra Type

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mesomelic Dysplasia, Kantaputra Type

Genetic Tests for Mesomelic Dysplasia, Kantaputra Type

About this section

Genetic tests related to Mesomelic Dysplasia, Kantaputra Type:

id Genetic test Affiliating Genes
1 Mesomelic Dysplasia Kantaputra Type27

Anatomical Context for Mesomelic Dysplasia, Kantaputra Type

About this section

MalaCards organs/tissues related to Mesomelic Dysplasia, Kantaputra Type:

36
Bone

Publications for Mesomelic Dysplasia, Kantaputra Type

About this section

Articles related to Mesomelic Dysplasia, Kantaputra Type:

idTitleAuthorsYear
1
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. (20648051)
2010
2
A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach. (19471182)
2008
3
Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al. (15211646)
2004
4
Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. (15264287)
2004
5
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. (9609995)
1998

Variations for Mesomelic Dysplasia, Kantaputra Type

About this section

Copy number variations for Mesomelic Dysplasia, Kantaputra Type from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11390822176506582176507065DuplicationKIAA1715Mesomelic dysplasia Kantaputra
21391842176973781176980910DuplicationMesomelic dysplasia Kantaputra
31391862176973862176980178DuplicationMesomelic dysplasia Kantaputra
41391932176985080176986597DuplicationMTX2Mesomelic dysplasia Kantaputra
51392202177342108177342602DuplicationNFE2L2Mesomelic dysplasia Kantaputra
61392602177856721177857706DuplicationMesomelic dysplasia Kantaputra

Expression for genes affiliated with Mesomelic Dysplasia, Kantaputra Type

About this section
Search GEO for disease gene expression data for Mesomelic Dysplasia, Kantaputra Type.

Pathways for genes affiliated with Mesomelic Dysplasia, Kantaputra Type

About this section

GO Terms for genes affiliated with Mesomelic Dysplasia, Kantaputra Type

About this section

Sources for Mesomelic Dysplasia, Kantaputra Type

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet