MDK
MCID: MSM016
MIFTS: 25

Mesomelic Dysplasia, Kantaputra Type (MDK) malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Mesomelic Dysplasia, Kantaputra Type

Aliases & Descriptions for Mesomelic Dysplasia, Kantaputra Type:

Name: Mesomelic Dysplasia, Kantaputra Type 54 56 13 69
Kantaputra Mesomelic Dysplasia 50 56 29
Mdk 50 56
Mesomelic Dysplasia with Ankle Carpal and Tarsal Synostosis 50
Mesomelic Dysplasia Kantaputra Type 50
Mesomelic Dysplasia, Thai Type 56
Mesomelic Dysplasia Thai Type 50
Mmdk 50

Characteristics:

Orphanet epidemiological data:

56
mesomelic dysplasia, kantaputra type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

32
mesomelic dysplasia, kantaputra type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 156232
Orphanet 56 ORPHA1836
UMLS via Orphanet 70 C1835009
ICD10 via Orphanet 34 Q78.8
MESH via Orphanet 43 C535547

Summaries for Mesomelic Dysplasia, Kantaputra Type

OMIM : 54 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 epilepsy, familial temporal lobe, 4 and critical illness polyneuropathy, and has symptoms including short stature, cubitus valgus and clinodactyly of the 5th finger. An important gene associated with Mesomelic Dysplasia, Kantaputra Type is MMDK (Mesomelic Dysplasia, Kantaputra Type). Affiliated tissues include bone.

Related Diseases for Mesomelic Dysplasia, Kantaputra Type

Diseases related to Mesomelic Dysplasia, Kantaputra Type via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 epilepsy, familial temporal lobe, 4 10.8
2 critical illness polyneuropathy 10.8
3 synesthesia 9.8 MMDK SHOX
4 lung cancer 9.8
5 glioma 9.8

Graphical network of the top 20 diseases related to Mesomelic Dysplasia, Kantaputra Type:



Diseases related to Mesomelic Dysplasia, Kantaputra Type

Symptoms & Phenotypes for Mesomelic Dysplasia, Kantaputra Type

Symptoms by clinical synopsis from OMIM:

156232

Clinical features from OMIM:

156232

Human phenotypes related to Mesomelic Dysplasia, Kantaputra Type:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 Very frequent (99-80%) HP:0004322
2 cubitus valgus 56 32 Occasional (29-5%) HP:0002967
3 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
4 abnormality of the ribs 56 32 Occasional (29-5%) HP:0000772
5 abnormality of the ankles 56 32 Very frequent (99-80%) HP:0003028
6 vertebral segmentation defect 56 32 Occasional (29-5%) HP:0003422
7 synostosis of carpal bones 56 32 Frequent (79-30%) HP:0005048
8 camptodactyly of finger 56 32 Very frequent (99-80%) HP:0100490
9 ulnar deviation of finger 56 32 Frequent (79-30%) HP:0009465
10 tarsal synostosis 56 32 Very frequent (99-80%) HP:0008368
11 talipes 56 32 Occasional (29-5%) HP:0001883
12 abnormality of the humerus 56 32 Very frequent (99-80%) HP:0003063
13 mesomelia 56 32 Very frequent (99-80%) HP:0003027
14 abnormality of the fibula 56 32 Very frequent (99-80%) HP:0002991
15 dumbbell-shaped humerus 56 32 Very frequent (99-80%) HP:0005009
16 radial bowing 32 HP:0002986
17 carpal synostosis 32 HP:0009702

Drugs & Therapeutics for Mesomelic Dysplasia, Kantaputra Type

Search Clinical Trials , NIH Clinical Center for Mesomelic Dysplasia, Kantaputra Type

Genetic Tests for Mesomelic Dysplasia, Kantaputra Type

Genetic tests related to Mesomelic Dysplasia, Kantaputra Type:

id Genetic test Affiliating Genes
1 Mesomelic Dysplasia Kantaputra Type 29

Anatomical Context for Mesomelic Dysplasia, Kantaputra Type

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

39
Bone

Publications for Mesomelic Dysplasia, Kantaputra Type

Articles related to Mesomelic Dysplasia, Kantaputra Type:

id Title Authors Year
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

Copy number variations for Mesomelic Dysplasia, Kantaputra Type from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 139082 2 176506582 176507065 Duplication KIAA1715 Mesomelic dysplasia Kantaputra
2 139184 2 176973781 176980910 Duplication Mesomelic dysplasia Kantaputra
3 139186 2 176973862 176980178 Duplication Mesomelic dysplasia Kantaputra
4 139193 2 176985080 176986597 Duplication MTX2 Mesomelic dysplasia Kantaputra
5 139220 2 177342108 177342602 Duplication NFE2L2 Mesomelic dysplasia Kantaputra
6 139260 2 177856721 177857706 Duplication Mesomelic dysplasia Kantaputra

Expression for Mesomelic Dysplasia, Kantaputra Type

Search GEO for disease gene expression data for Mesomelic Dysplasia, Kantaputra Type.

Pathways for Mesomelic Dysplasia, Kantaputra Type

GO Terms for Mesomelic Dysplasia, Kantaputra Type

Sources for Mesomelic Dysplasia, Kantaputra Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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