MDK
MCID: MSM007
MIFTS: 32

Mesomelic Dysplasia Kantaputra Type (MDK) malady

Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Mesomelic Dysplasia Kantaputra Type

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47OMIM, 33MalaCards
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MalaCards: Mesomelic Dysplasia Kantaputra Type, also known as mesomelic dysplasia, kantaputra type, is related to hepatocellular carcinoma and periapical granuloma, and has symptoms including fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly, humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus and tarsal anomaly/fusion/synostosis. An important gene associated with Mesomelic Dysplasia Kantaputra Type is MMDK (Mesomelic dysplasia, Kantaputra type). Affiliated tissues include bone.

Description from OMIM:47 156232,613681

Aliases & Classifications for Mesomelic Dysplasia Kantaputra Type

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Sources:
43NIH Rare Diseases, 22GTR, 49Orphanet, 47OMIM, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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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; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mesomelic dysplasia kantaputra type 43
mesomelic dysplasia, kantaputra type 47 49 62
kantaputra mesomelic dysplasia 43 22 49
mdk 43 49
mesomelic dysplasia with ankle carpal and tarsal synostosis 43
mesomelic dysplasia, thai type 49
mesomelic dysplasia thai type 43
mmdk 43


External Ids:

MESH via Orphanet36 C535547
ICD10 via Orphanet26 Q78.8
UMLS via Orphanet63 C1835009

Related Diseases for Mesomelic Dysplasia Kantaputra Type

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17GeneCards, 18GeneDecks
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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
2periapical granuloma10.1

Symptoms for Mesomelic Dysplasia Kantaputra Type

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

156232

Clinical features from OMIM:

156232,613681

Symptoms:

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

Drugs & Therapeutics for Mesomelic Dysplasia Kantaputra Type

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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Sources:
22GTR
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Genetic tests related to Mesomelic Dysplasia Kantaputra Type:

id Genetic test Affiliating Genes
1 Mesomelic Dysplasia Kantaputra Type22

Anatomical Context for Mesomelic Dysplasia Kantaputra Type

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Sources:
33MalaCards
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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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52PubMed
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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
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
3
Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. (15264287)
2004
4
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mesomelic Dysplasia Kantaputra Type

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
  • Proteins
  • Lysates
  • Antibodies

Sources for Mesomelic Dysplasia Kantaputra Type

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet