Mesomelic Dysplasia, Kantaputra Type disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Aliases & Classifications for Mesomelic Dysplasia, Kantaputra Type

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:

MalaCards categories:
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ²⁸

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Other specified osteochondrodysplasias

Orphanet: ⁵¹

Rare bone diseases

Developmental anomalies during embryogenesis

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

Sources:
⁴⁹OMIM, ³³MalaCards
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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 glioma and renal cell carcinoma, papillary, 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, breast and myeloid.

Related Diseases for Mesomelic Dysplasia, Kantaputra Type

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
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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	glioma	10.0
2	renal cell carcinoma, papillary	9.9
3	hepatitis c virus	9.9
4	lung cancer susceptibility 3	9.9
5	pulmonary fibrosis	9.9
6	pulmonary systemic sclerosis	9.9
7	influenza	9.9
8	mesomelic dysplasia, kantaputra type	8.9	MDK, MMDK, SHOX

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

Symptoms for Mesomelic Dysplasia, Kantaputra Type

Sources:
⁴⁹OMIM, ⁶¹The Human Phenotype Ontology, ⁵¹Orphanet
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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

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials
See all MalaCards sources

Interventional clinical trials:

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

Genetic Tests for Mesomelic Dysplasia, Kantaputra Type

Anatomical Context for Mesomelic Dysplasia, Kantaputra Type

Sources:
³³MalaCards
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MalaCards organs/tissues related to Mesomelic Dysplasia, Kantaputra Type:

³³

Bone, Breast, Myeloid

Animal Models for Mesomelic Dysplasia, Kantaputra Type or affiliated genes

MGI Mouse Phenotypes related to Mesomelic Dysplasia, Kantaputra Type:

³⁸

id	Description	MGI Source Accession	Score	Top Affiliating Genes

Publications for Mesomelic Dysplasia, Kantaputra Type

Sources:
⁵⁴PubMed
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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)	Kantaputra P.N.... Mundlos S.	2010
2	A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach. (19471182)	Siwicka K.A.... Ishiguro N.	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)	Kantaputra P.N.	2004
4	Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. (15264287)	Kwee M.L.... Gille J.J.	2004
5	The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. (9609995)	Fujimoto M.... Niikawa N.	1998

Genes related to Mesomelic Dysplasia, Kantaputra Type

Sources:
²⁰GeneCards, ⁴⁹OMIM
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Genes related to Mesomelic Dysplasia, Kantaputra Type (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication
1	MMDK	Mesomelic Dysplasia, Kantaputra Type	69.87	Genetic linkage ⁴⁹ GeneCards inferred via : Publications, Gene name (show sections)
2	MDK	Midkine (Neurite Growth-Promoting Factor 2)	50.00	Genetic linkage ⁴⁹
3	SHOX	Short Stature Homeobox	18.56	GeneCards inferred via : Publications (show sections)

Variations for Mesomelic Dysplasia, Kantaputra Type

Expression for genes affiliated with Mesomelic Dysplasia, Kantaputra Type

Sources:
¹⁷Gene Expression Omnibus DataSets
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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

Sources:
⁵²PathCards, ⁵⁷Reactome, ⁵⁵QIAGEN, ³⁹NCBI BioSystems Database
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Pathways related to Mesomelic Dysplasia, Kantaputra Type according to GeneCards Suite gene sharing:

id	Super pathways	Score	Top Affiliating Genes
1	Signaling by NOTCH1⁵⁷ Show member pathways Signaling by NOTCH⁵⁷ Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer⁵⁷ Signaling by NOTCH1 PEST Domain Mutants in Cancer⁵⁷ Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants⁵⁷ Signaling by NOTCH1 in Cancer⁵⁷ Constitutive Signaling by NOTCH1 PEST Domain Mutants⁵⁷ NOTCH1 Intracellular Domain Regulates Transcription⁵⁷	9.0	MDK, MMDK
2	NF-KappaB Family Pathway⁵⁵ Show member pathways NF-KappaB (p50-p65) Pathway⁵⁵	9.0	MDK, MMDK
3	NOTCH2 Activation and Transmission of Signal to the Nucleus⁵⁷ Show member pathways Signaling by NOTCH2⁵⁷ NOTCH2 intracellular domain regulates transcription⁵⁷ Activated NOTCH1 Transmits Signal to the Nucleus⁵⁷ Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant⁵⁷ Signaling by NOTCH1 HD Domain Mutants in Cancer⁵⁷ Constitutive Signaling by NOTCH1 HD Domain Mutants⁵⁷ Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1-M1580_K2555) Translocation Mutant⁵⁷	9.0	MDK, MMDK
4	Syndecan-4-mediated signaling events³⁹	9.0	MDK, MMDK
5	Glypican 2 network³⁹	9.0	MDK, MMDK