mesomelic dysplasia, Kantaputra type

Summary

mesomelic dysplasia, Kantaputra type (MONDO:0007977) is a disease. A subtype of mesomelic dysplasia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 15

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		5	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

15 HPO clinical features (Orphanet curated; top 15 by frequency):

HPO ID	Term	Frequency
HP:0002991	Abnormal fibula morphology	Very frequent (80-99%)
HP:0003027	Mesomelia	Very frequent (80-99%)
HP:0003028	Abnormality of the ankles	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0005009	Dumbbell-shaped humerus	Very frequent (80-99%)
HP:0008368	Tarsal synostosis	Very frequent (80-99%)
HP:0100490	Camptodactyly of finger	Very frequent (80-99%)
HP:0031095	Abnormal humerus morphology	Very frequent (80-99%)
HP:0004209	Clinodactyly of the 5th finger	Frequent (30-79%)
HP:0005048	Synostosis of carpal bones	Frequent (30-79%)
HP:0009465	Ulnar deviation of finger	Frequent (30-79%)
HP:0000772	Abnormal rib morphology	Occasional (5-29%)
HP:0001883	Talipes	Occasional (5-29%)
HP:0002967	Cubitus valgus	Occasional (5-29%)
HP:0003422	Vertebral segmentation defect	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	mesomelic dysplasia, Kantaputra type
Mondo ID	MONDO:0007977
MeSH	C535547
OMIM	156232
Orphanet	1836
SNOMED CT	719397009
UMLS	C1835009
MedGen	331880
GARD	0003074
Is cancer (heuristic)	no

Also known as: Kantaputra mesomelic dysplasia · MDK · mesomelic dysplasia Kantaputra type · mesomelic dysplasia Thai type · mesomelic dysplasia with ankle carpal and tarsal synostosis · mesomelic dysplasia, Kantaputra type · mesomelic dysplasia, Thai type · MMDK

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone development disease › osteochondrodysplasia › mesomelic dysplasia › mesomelic dysplasia, Kantaputra type

Related subtypes (5): mesomelic dwarfism, Nievergelt type, mesomelic dwarfism, Reinhardt-Pfeiffer type, upper limb mesomelic dysplasia, Langer mesomelic dysplasia, mesomelic dysplasia, Savarirayan type

Subtypes (1): chromosome 2q31.1 duplication syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.