MMDK
MCID: MSM016
MIFTS: 28

Mesomelic Dysplasia, Kantaputra Type (MMDK)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mesomelic Dysplasia, Kantaputra Type

MalaCards integrated aliases for Mesomelic Dysplasia, Kantaputra Type:

Name: Mesomelic Dysplasia, Kantaputra Type 56 58 29 13 71
Mdk 56 52 58
Mesomelic Dysplasia, Thai Type 56 58
Kantaputra Mesomelic Dysplasia 52 58
Mmdk 56 52
Mesomelic Dysplasia with Ankle, Carpal, and Tarsal Synostosis 56
Mesomelic Dysplasia with Ankle Carpal and Tarsal Synostosis 52
Mesomelic Dysplasia Kantaputra Type 52
Mesomelic Dysplasia Thai Type 52

Characteristics:

Orphanet epidemiological data:

58
mesomelic dysplasia, kantaputra type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
patients walk on tips of toes with dorsal foot deviated laterally


HPO:

31
mesomelic dysplasia, kantaputra type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 156232
MESH via Orphanet 44 C535547
ICD10 via Orphanet 33 Q78.8
UMLS via Orphanet 72 C1835009
Orphanet 58 ORPHA1836
MedGen 41 C1835009
UMLS 71 C1835009

Summaries for Mesomelic Dysplasia, Kantaputra Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1836 Definition Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature . Epidemiology It has been described in five families. Clinical description In the upper limbs, the ulnae are very short, and the radii are bowed. The distal humerus has a dumbbell shape. The hands show progressive flexion contractures of the proximal interphalangeal joints. In the lower limbs, feet are fixed in plantar flexion so that the patients walk on their toetips. The prominent distal fibula on the ventral aspect is common and considered a hallmark. Fibula, talus and calcaneus are small and fibulo-calcaneal synostosis is a characteristic feature. Carpal and tarsal synostoses are observed in some individuals. All affected patients have normal craniofacial features and intelligence. Etiology Using microarray -based comparative genomic hybridization (array-CGH), two microduplications have been identified on chromosome 2 (2q31.1-q31.2), separated by a segment of normal copy number. The more centromeric duplication encompasses the HOXD cluster and it is proposed that duplications cause dysregulation of HOXD gene expression . Genetic counseling In all families, the condition is transmitted as an autosomal dominant trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Mesomelic Dysplasia, Kantaputra Type, also known as mdk, is related to breast cancer and hepatocellular carcinoma. An important gene associated with Mesomelic Dysplasia, Kantaputra Type is MMDK (Mesomelic Dysplasia, Kantaputra Type). Affiliated tissues include bone, and related phenotypes are short stature and abnormality of the ankles

OMIM : 56 Kantaputra mesomelic dysplasia (MMDK) is a rare, autosomal dominant skeletal disease characterized by symmetric marked shortening of the upper and lower limbs. The ulnae are very short and the radii are bowed. The distal humerus has a dumbbell shape, whereas the hands are relatively normal but show progressive flexion contractures of the proximal interphalangeal joints. Carpal and tarsal synostoses are observed in some individuals. In the lower limbs, the feet are fixed in plantar flexion with the sole facing backward, causing 'ballerina-like standing.' The prominent distal fibula on the ventral aspect is considered to be the signature finding of the syndrome. The calcaneus is small or missing, and a small fibula and talus as well as fibulocalcaneal synostosis are characteristic features. The tibial bony knot articulates with the proximal end of the fibula (summary by Kantaputra et al., 2010). See 613681 for discussion of the chromosome 2q31.1 duplication syndrome, which shows cytogenetic and phenotypic overlap with MMDK. (156232)

Related Diseases for Mesomelic Dysplasia, Kantaputra Type

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

Human phenotypes related to Mesomelic Dysplasia, Kantaputra Type:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of the ankles 58 31 hallmark (90%) Very frequent (99-80%) HP:0003028
3 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
4 tarsal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008368
5 abnormality of the humerus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003063
6 mesomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003027
7 abnormality of fibula morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002991
8 dumbbell-shaped humerus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005009
9 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
10 ulnar deviation of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009465
11 synostosis of carpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0005048
12 cubitus valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002967
13 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
14 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
15 vertebral segmentation defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0003422
16 radial bowing 31 HP:0002986
17 carpal synostosis 31 HP:0009702

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
radial bowing
mesomelic limb shortening
broad, shortened radius
broad, severely shortened ulna
shortened tibia
more
Skeletal Feet:
malformed calcaneus
malformed talus
tibial-talar complex
fibulo-calcaneal complex
tarsal synostoses

Skeletal Hands:
hands deviate ulnarly
carpal synostoses
normal metacarpals
normal phalanges

Clinical features from OMIM:

156232

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:

# 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:

40
Bone

Publications for Mesomelic Dysplasia, Kantaputra Type

Articles related to Mesomelic Dysplasia, Kantaputra Type:

(show all 14)
# Title Authors PMID Year
1
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. 56 61
20648051 2010
2
A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1. 61 56
20577005 2010
3
A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach. 56 61
19471182 2008
4
Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. 61 56
15264287 2004
5
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. 56 61
15211646 2004
6
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. 56 61
9609995 1998
7
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. 56
20602915 2010
8
Kantaputra mesomelic dysplasia: a second reported family. 56
15211647 2004
9
The mouse Ulnaless mutation deregulates posterior HoxD gene expression and alters appendicular patterning. 56
9342041 1997
10
Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain-of-function of posterior Hoxd genes. 56
9342042 1997
11
Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder. 56
1481840 1992
12
Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13). 56
6660251 1983
13
A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia. 61
23456534 2014
14
[Molecular-genetic approach to congenital malformation syndromes]. 61
10191630 1999

Variations for Mesomelic Dysplasia, Kantaputra Type

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

7
# CNVD ID Chromosome 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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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