MDK
MCID: MSM007
MIFTS: 34

Mesomelic Dysplasia Kantaputra Type (MDK) malady

Bone diseases, Fetal diseases categories

Summaries for Mesomelic Dysplasia Kantaputra Type

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46OMIM, 32MalaCards
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MalaCards: Mesomelic Dysplasia Kantaputra Type, also known as mesomelic dysplasia, kantaputra type, is related to adenocarcinoma and breast cancer, and has symptoms including talipes-varus/metatarsal varus, cubitus valgus and vertebral segmentation anomaly/hemivertebrae. An important gene associated with Mesomelic Dysplasia Kantaputra Type is MMDK (Mesomelic dysplasia, Kantaputra type). Affiliated tissues include bone.

Description from OMIM:46 156232,613681

Aliases & Classifications for Mesomelic Dysplasia Kantaputra Type

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Sources:
42NIH Rare Diseases, 22GTR, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
mesomelic dysplasia, kantaputra type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mesomelic dysplasia kantaputra type 42
mesomelic dysplasia, kantaputra type 46 48 60
kantaputra mesomelic dysplasia 42 22 48
mdk 42 48
mesomelic dysplasia with ankle carpal and tarsal synostosis 42
mesomelic dysplasia, thai type 48
mesomelic dysplasia thai type 42
mmdk 42


External Ids:

MESH via Orphanet35 C535547
ICD10 via Orphanet26 Q78.8
UMLS via Orphanet61 C1835009

Related Diseases for Mesomelic Dysplasia Kantaputra Type

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Mesomelic Dysplasia Kantaputra Type:



Diseases related to mesomelic dysplasia kantaputra type

Clinical Features for Mesomelic Dysplasia Kantaputra Type

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46OMIM, 48Orphanet
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Clinical features from OMIM:

156232,613681

Clinical synopsis from OMIM:

156232

Symptoms:

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

Drugs & Therapeutics for Mesomelic Dysplasia Kantaputra Type

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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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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32MalaCards
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MalaCards organs/tissues related to Mesomelic Dysplasia Kantaputra Type:

32
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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Genetic Variations for Mesomelic Dysplasia Kantaputra Type

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Expression for genes affiliated with Mesomelic Dysplasia Kantaputra Type

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet