MCID: MSM016
MIFTS: 23

Mesomelic Dysplasia, Kantaputra Type malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Mesomelic Dysplasia, Kantaputra Type

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Sources:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Mesomelic Dysplasia, Kantaputra Type:

Name: Mesomelic Dysplasia, Kantaputra Type 51 53 12 67
Kantaputra Mesomelic Dysplasia 47 53 26
Mdk 47 53
Mesomelic Dysplasia with Ankle Carpal and Tarsal Synostosis 47
 
Mesomelic Dysplasia Kantaputra Type 47
Mesomelic Dysplasia, Thai Type 53
Mesomelic Dysplasia Thai Type 47
Mmdk 47

Characteristics:

Orphanet epidemiological data:

53
mesomelic dysplasia, kantaputra type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
mesomelic dysplasia, kantaputra type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 156232
Orphanet53 ORPHA1836
UMLS via Orphanet68 C1835009
ICD10 via Orphanet30 Q78.8
MESH via Orphanet39 C535547

Summaries for Mesomelic Dysplasia, Kantaputra Type

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OMIM:51 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 lung cancer and glioma, and has symptoms including micromelia, abnormality of the fibula and abnormality of the ankles. 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

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

idRelated DiseaseScoreTop Affiliating Genes
1lung cancer9.8
2glioma9.8

Symptoms for Mesomelic Dysplasia, Kantaputra Type

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Symptoms by clinical synopsis from OMIM:

156232

Clinical features from OMIM:

156232

Human phenotypes related to Mesomelic Dysplasia, Kantaputra Type:

 63 53 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micromelia63 hallmark (90%) HP:0002983
2 abnormality of the fibula63 53 hallmark (90%) Very frequent (99-80%) HP:0002991
3 abnormality of the ankles63 53 hallmark (90%) Very frequent (99-80%) HP:0003028
4 abnormality of the humerus63 53 hallmark (90%) Very frequent (99-80%) HP:0003063
5 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
6 tarsal synostosis63 53 hallmark (90%) Very frequent (99-80%) HP:0008368
7 camptodactyly of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0100490
8 clinodactyly of the 5th finger63 53 typical (50%) Frequent (79-30%) HP:0004209
9 synostosis of carpal bones63 53 typical (50%) Frequent (79-30%) HP:0005048
10 ulnar deviation of finger63 53 typical (50%) Frequent (79-30%) HP:0009465
11 abnormality of the ribs63 53 occasional (7.5%) Occasional (29-5%) HP:0000772
12 talipes63 53 occasional (7.5%) Occasional (29-5%) HP:0001883
13 cubitus valgus63 53 occasional (7.5%) Occasional (29-5%) HP:0002967
14 vertebral segmentation defect63 53 occasional (7.5%) Occasional (29-5%) HP:0003422
15 radial bowing63 HP:0002986
16 mesomelia63 53 Very frequent (99-80%) HP:0003027
17 carpal synostosis63 HP:0009702
18 dumbbell-shaped humerus53 Very frequent (99-80%)

Drugs & Therapeutics for Mesomelic Dysplasia, Kantaputra Type

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Interventional clinical trials:

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

Genetic Tests for Mesomelic Dysplasia, Kantaputra Type

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Genetic tests related to Mesomelic Dysplasia, Kantaputra Type:

id Genetic test Affiliating Genes
1 Mesomelic Dysplasia Kantaputra Type26

Anatomical Context for Mesomelic Dysplasia, Kantaputra Type

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

35
Bone

Animal Models for Mesomelic Dysplasia, Kantaputra Type or affiliated genes

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Publications for Mesomelic Dysplasia, Kantaputra Type

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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
Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. (15264287)
2004
4
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
5
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. (9609995)
1998

Variations for Mesomelic Dysplasia, Kantaputra Type

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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

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

Pathways for genes affiliated with Mesomelic Dysplasia, Kantaputra Type

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GO Terms for genes affiliated with Mesomelic Dysplasia, Kantaputra Type

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Sources for Mesomelic Dysplasia, Kantaputra Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet