MCID: MSM016
MIFTS: 29

Mesomelic Dysplasia, Kantaputra Type malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Mesomelic Dysplasia, Kantaputra Type

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Sources:
50OMIM, 52Orphanet, 12diseasecard, 66UMLS, 46NIH Rare Diseases, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Mesomelic Dysplasia, Kantaputra Type:

Name: Mesomelic Dysplasia, Kantaputra Type 50 52 12 66
Kantaputra Mesomelic Dysplasia 46 52 25
Mdk 46 52
Mesomelic Dysplasia with Ankle Carpal and Tarsal Synostosis 46
 
Mesomelic Dysplasia Kantaputra Type 46
Mesomelic Dysplasia, Thai Type 52
Mesomelic Dysplasia Thai Type 46
Mmdk 46

Characteristics:

Orphanet epidemiological data:

52
mesomelic dysplasia, kantaputra type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

62
mesomelic dysplasia, kantaputra type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 156232
Orphanet52 ORPHA1836
ICD10 via Orphanet29 Q78.8
MESH via Orphanet38 C535547
UMLS via Orphanet67 C1835009

Summaries for Mesomelic Dysplasia, Kantaputra Type

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OMIM:50 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 glioma and renal cell carcinoma, papillary, 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
1glioma10.0
2renal cell carcinoma, papillary9.9
3hepatitis c virus9.9
4lung cancer susceptibility 39.9
5pulmonary fibrosis9.9
6pulmonary systemic sclerosis9.9
7influenza9.9
8mesomelic dysplasia, kantaputra type8.9MDK, MMDK, SHOX

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



Diseases related to mesomelic dysplasia, kantaputra type

Symptoms for Mesomelic Dysplasia, Kantaputra Type

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Symptoms by clinical synopsis from OMIM:

156232

Clinical features from OMIM:

156232

Symptoms:

 52 (show all 15)
  • abnormality of the ribs
  • talipes
  • cubitus valgus
  • abnormality of the fibula
  • mesomelia
  • abnormality of the ankles
  • abnormality of the humerus
  • vertebral segmentation defect
  • clinodactyly of the 5th finger
  • short stature
  • dumbbell-shaped humerus
  • synostosis of carpal bones
  • tarsal synostosis
  • ulnar deviation of finger
  • camptodactyly of finger

HPO human phenotypes related to Mesomelic Dysplasia, Kantaputra Type:

(show all 18)
id Description Frequency HPO Source Accession
1 micromelia hallmark (90%) HP:0002983
2 abnormality of the fibula hallmark (90%) HP:0002991
3 abnormality of the ankles hallmark (90%) HP:0003028
4 abnormality of the humerus hallmark (90%) HP:0003063
5 short stature hallmark (90%) HP:0004322
6 tarsal synostosis hallmark (90%) HP:0008368
7 camptodactyly of finger hallmark (90%) HP:0100490
8 clinodactyly of the 5th finger typical (50%) HP:0004209
9 synostosis of carpal bones typical (50%) HP:0005048
10 ulnar deviation of finger typical (50%) HP:0009465
11 abnormality of the ribs occasional (7.5%) HP:0000772
12 talipes occasional (7.5%) HP:0001883
13 cubitus valgus occasional (7.5%) HP:0002967
14 vertebral segmentation defect occasional (7.5%) HP:0003422
15 radial bowing HP:0002986
16 mesomelia HP:0003027
17 tarsal synostosis HP:0008368
18 carpal synostosis HP:0009702

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 Type25

Anatomical Context for Mesomelic Dysplasia, Kantaputra Type

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

34
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet