MCID: MSM016
MIFTS: 32

Mesomelic Dysplasia, Kantaputra Type malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Mesomelic Dysplasia, Kantaputra Type

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Sources:
49OMIM, 11diseasecard, 51Orphanet, 65UMLS, 45NIH Rare Diseases, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Mesomelic Dysplasia, Kantaputra Type:

Name: Mesomelic Dysplasia, Kantaputra Type 49 11 51 65
Kantaputra Mesomelic Dysplasia 45 51 24
Mdk 45 51
Mesomelic Dysplasia with Ankle Carpal and Tarsal Synostosis 45
 
Mesomelic Dysplasia Kantaputra Type 45
Mesomelic Dysplasia, Thai Type 51
Mesomelic Dysplasia Thai Type 45
Mmdk 45

Characteristics:

Orphanet epidemiological data:

51
mesomelic dysplasia, kantaputra type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

61
mesomelic dysplasia, kantaputra type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 156232
Orphanet51 1836
ICD10 via Orphanet28 Q78.8
MESH via Orphanet37 C535547
UMLS via Orphanet66 C1835009
UMLS65 C1835009

Summaries for Mesomelic Dysplasia, Kantaputra Type

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OMIM:49 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 leukemia and neuronitis, and has symptoms including micromelia, abnormality of the fibula and abnormality of the ankles. An important gene associated with Mesomelic Dysplasia, Kantaputra Type is MMDK (Mesomelic Dysplasia, Kantaputra Type), and among its related pathways are Signaling by NOTCH1 and NF-KappaB Family Pathway. Affiliated tissues include bone and breast.

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1leukemia10.6
2neuronitis10.6
3myeloid leukemia10.6
4mesomelic dysplasia, kantaputra type9.3MDK, MMDK, SHOX

Symptoms for Mesomelic Dysplasia, Kantaputra Type

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Symptoms by clinical synopsis from OMIM:

156232

Clinical features from OMIM:

156232

Symptoms:

 51 (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 18)
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 carpal synostosis HP:0009702
16 tarsal synostosis HP:0008368
17 mesomelia HP:0003027
18 radial bowing HP:0002986

Drugs & Therapeutics for Mesomelic Dysplasia, Kantaputra Type

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Interventional clinical trials:

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

Genetic Tests for Mesomelic Dysplasia, Kantaputra Type

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Anatomical Context for Mesomelic Dysplasia, Kantaputra Type

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

33
Bone, Breast

Animal Models for Mesomelic Dysplasia, Kantaputra Type or affiliated genes

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MGI Mouse Phenotypes related to Mesomelic Dysplasia, Kantaputra Type:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Mesomelic Dysplasia, Kantaputra Type

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Articles related to Mesomelic Dysplasia, Kantaputra Type:

idTitleAuthorsYear
1
Optimizing the initial choice and timing of therapy in relapsing-remitting multiple sclerosis. (26557897)
2015
2
Identification of a functional estrogen-responsive enhancer element in the promoter 2 of PRDM2 gene in breast cancer cell lines. (21503890)
2012
3
Aldo-keto reductases in which the conserved catalytic histidine is substituted. (19028475)
2009
4
Dual modulation of 5-fluorouracil cytotoxicity using folinic acid with a dihydropyrimidine dehydrogenase inhibitor. (9264323)
1997
5
Protein kinase C modulation of fibronectin matrix assembly. (8226736)
1993

Variations for Mesomelic Dysplasia, Kantaputra Type

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Expression for genes affiliated with Mesomelic Dysplasia, Kantaputra Type

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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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GO Terms for genes affiliated with Mesomelic Dysplasia, Kantaputra Type

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Sources for Mesomelic Dysplasia, Kantaputra Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet