MDK
MCID: MSM007
MIFTS: 32

Mesomelic Dysplasia Kantaputra Type (MDK) malady

Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Mesomelic Dysplasia Kantaputra Type

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48OMIM, 34MalaCards
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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:48 156232,613681

Aliases & Classifications for Mesomelic Dysplasia Kantaputra Type

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Sources:
44NIH Rare Diseases, 23GTR, 50Orphanet, 48OMIM, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS 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):

50
mesomelic dysplasia, kantaputra type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mesomelic dysplasia kantaputra type 44
mesomelic dysplasia, kantaputra type 48 50 63
kantaputra mesomelic dysplasia 44 23 50
mdk 44 50
mesomelic dysplasia with ankle carpal and tarsal synostosis 44
mesomelic dysplasia, thai type 50
mesomelic dysplasia thai type 44
mmdk 44


External Ids:

MESH via Orphanet37 C535547
ICD10 via Orphanet27 Q78.8
UMLS via Orphanet64 C1835009

Related Diseases for Mesomelic Dysplasia Kantaputra Type

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

156232

Clinical features from OMIM:

156232,613681

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Mesomelic Dysplasia Kantaputra Type

Drug clinical trials:

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Search NIH Clinical Center for Mesomelic Dysplasia Kantaputra Type

Search CenterWatch for Mesomelic Dysplasia Kantaputra Type

Genetic Tests for Mesomelic Dysplasia Kantaputra Type

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23GTR
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Genetic tests related to Mesomelic Dysplasia Kantaputra Type:

id Genetic test Affiliating Genes
1 Mesomelic Dysplasia Kantaputra Type23

Anatomical Context for Mesomelic Dysplasia Kantaputra Type

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34MalaCards
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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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53PubMed
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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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet