MCID: MSM016
MIFTS: 33

Mesomelic Dysplasia, Kantaputra Type malady

Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Mesomelic Dysplasia, Kantaputra Type

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OMIM:47 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 hepatocellular carcinoma and wilms tumor, 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.

Aliases & Classifications for Mesomelic Dysplasia, Kantaputra Type

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 24GTR, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Mesomelic Dysplasia, Kantaputra Type, Aliases & Descriptions:

Name: Mesomelic Dysplasia, Kantaputra Type 47 11 43 49
Kantaputra Mesomelic Dysplasia 43 49 24
Mesomelic Dysplasia, Thai Type 43 49
Mdk 43 49
 
Mesomelic Dysplasia with Ankle Carpal and Tarsal Synostosis 43
Mesomelic Dysplasia Kantaputra Type 43
Mesomelic Dysplasia Thai Type 43
Mmdk 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

49
mesomelic dysplasia, kantaputra type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

OMIM47 156232
Orphanet49 1836
MESH via Orphanet36 C535547
ICD10 via Orphanet28 Q78.8
UMLS via Orphanet63 C1835009

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hepatocellular carcinoma10.2
2wilms tumor10.0
3pulmonary fibrosis10.0
4pulmonary systemic sclerosis10.0
5periapical granuloma10.0
6influenza10.0

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:

 49 (show all 15)
  • mesomelic micromelia
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • camptodactyly of some fingers
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly
  • tarsal anomaly/fusion/synostosis
  • ankle anomalies
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • carpal bones fusion/synostosis
  • clinodactyly of fifth finger
  • ulnar deviation of fingers
  • rib number anomalies
  • vertebral segmentation anomaly/hemivertebrae
  • cubitus valgus
  • talipes-varus/metatarsal varus

HPO human phenotypes related to Mesomelic Dysplasia, Kantaputra Type:

(show all 19)
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 autosomal dominant inheritance HP:0000006
16 radial bowing HP:0002986
17 mesomelia HP:0003027
18 tarsal synostosis HP:0008368
19 carpal synostosis HP:0009702

Drugs & Therapeutics for Mesomelic Dysplasia, Kantaputra Type

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Drug clinical trials:

Search ClinicalTrials for Mesomelic Dysplasia, Kantaputra Type

Search 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 Type24

Anatomical Context for Mesomelic Dysplasia, Kantaputra Type

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

33
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
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

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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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Compounds 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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Products for genes affiliated with Mesomelic Dysplasia, Kantaputra Type

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  • Antibodies
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  • Kits and Assays

Sources for Mesomelic Dysplasia, Kantaputra Type

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet