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

Aliases & Classifications for Mesomelic Dysplasia, Kantaputra Type

Sources:
¹²diseasecard, ²⁷GTR, ³¹ICD10 via Orphanet, ⁴⁰MESH via Orphanet, ⁴⁸NIH Rare Diseases, ⁵²OMIM, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS, ⁶⁹UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Mesomelic Dysplasia, Kantaputra Type:

Name: Mesomelic Dysplasia, Kantaputra Type ⁵² ⁵⁴ ¹² ⁶⁸

Kantaputra Mesomelic Dysplasia ⁴⁸ ⁵⁴ ²⁷

Mdk ⁴⁸ ⁵⁴

Mesomelic Dysplasia with Ankle Carpal and Tarsal Synostosis ⁴⁸

Mesomelic Dysplasia Kantaputra Type ⁴⁸

Mesomelic Dysplasia, Thai Type ⁵⁴

Mesomelic Dysplasia Thai Type ⁴⁸

Mmdk ⁴⁸

Characteristics:

Orphanet epidemiological data:

⁵⁴

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

HPO:

⁶⁴

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: ³¹

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Other specified osteochondrodysplasias

Orphanet: ⁵⁴

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM⁵² 156232

Orphanet⁵⁴ ORPHA1836

UMLS via Orphanet⁶⁹ C1835009

ICD10 via Orphanet³¹ Q78.8

MESH via Orphanet⁴⁰ C535547

Summaries for Mesomelic Dysplasia, Kantaputra Type

Sources:
³⁶MalaCards, ⁵²OMIM
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OMIM:⁵² 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 Array, Array and Array. 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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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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	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 diseases related to Mesomelic Dysplasia, Kantaputra Type:

Symptoms & Phenotypes for Mesomelic Dysplasia, Kantaputra Type

Sources:
⁵²OMIM, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology
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Symptoms by clinical synopsis from OMIM:

156232

Clinical features from OMIM:

156232

Human phenotypes related to Mesomelic Dysplasia, Kantaputra Type:

⁵⁴ ⁶⁴ (show all 17)

id	Description	Orphanet Frequency	HPO Source Accession
1	abnormality of the ribs⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000772
2	talipes⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0001883
3	cubitus valgus⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0002967
4	abnormality of the fibula⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0002991
5	mesomelia⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0003027
6	abnormality of the ankles⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0003028
7	abnormality of the humerus⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0003063
8	vertebral segmentation defect⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0003422
9	clinodactyly of the 5th finger⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0004209
10	short stature⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0004322
11	dumbbell-shaped humerus⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0005009
12	synostosis of carpal bones⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0005048
13	tarsal synostosis⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0008368
14	ulnar deviation of finger⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0009465
15	camptodactyly of finger⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0100490
16	radial bowing⁶⁴		HP:0002986
17	carpal synostosis⁶⁴		HP:0009702

Drugs & Therapeutics for Mesomelic Dysplasia, Kantaputra Type

Sources:
⁴ClinicalTrials
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Interventional clinical trials:

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

Genetic Tests for Mesomelic Dysplasia, Kantaputra Type

Sources:
²⁷GTR
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Genetic tests related to Mesomelic Dysplasia, Kantaputra Type:

id	Genetic test	Affiliating Genes
1	Mesomelic Dysplasia Kantaputra Type²⁷

Anatomical Context for Mesomelic Dysplasia, Kantaputra Type

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Mesomelic Dysplasia, Kantaputra Type:

³⁶

Bone

Publications for Mesomelic Dysplasia, Kantaputra Type

Sources:
⁵⁷PubMed
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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:
²¹GeneCards, ⁵²OMIM
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Genes related to Mesomelic Dysplasia, Kantaputra Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	MMDK	Mesomelic Dysplasia, Kantaputra Type	80.82	Genetic linkage ⁵² GeneCards inferred via : Disorders, Publications, Gene name (show sections)
2	SHOX	Short Stature Homeobox	29.07	GeneCards inferred via : Disorders, Publications (show sections)

Variations for Mesomelic Dysplasia, Kantaputra Type

Sources:
⁶CNVD
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Copy number variations for Mesomelic Dysplasia, Kantaputra Type from CNVD:

⁶

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