MDK
MCID: MSM007
MIFTS: 31

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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MalaCards based summary: Mesomelic Dysplasia Kantaputra Type, also known as mesomelic dysplasia, kantaputra type, is related to periapical granuloma, and has symptoms including mesomelic micromelia, humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus and camptodactyly of some fingers. An important gene associated with Mesomelic Dysplasia Kantaputra Type is MMDK (Mesomelic dysplasia, Kantaputra type). Affiliated tissues include bone.

Descriptions from OMIM:46 156232,613681

Aliases & Classifications for Mesomelic Dysplasia Kantaputra Type

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Mesomelic Dysplasia Kantaputra Type, Aliases & Descriptions:

Name: Mesomelic Dysplasia Kantaputra Type 42
Mesomelic Dysplasia, Kantaputra Type 46 48 62
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


Classifications:

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


External Ids:

MESH via Orphanet35 C535547
ICD10 via Orphanet26 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
1periapical granuloma10.1

Symptoms for Mesomelic Dysplasia Kantaputra Type

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Symptoms by clinical synopsis from OMIM:

156232

Clinical features from OMIM:

156232,613681

Symptoms:

48 (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 22)
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 talipes equinovarus rare (5%) HP:0001762
16 autosomal dominant inheritance HP:0000006
17 radial bowing HP:0002986
18 mesomelia HP:0003027
19 tarsal synostosis HP:0008368
20 carpal synostosis HP:0009702
21 autosomal dominant inheritance HP:0000006
22 short stature HP:0004322

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 Type22

Anatomical Context for Mesomelic Dysplasia Kantaputra Type

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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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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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet