Metatropic Dysplasia malady

NIH Rare Diseases: Metatropic dwarfism is a severe skeletal dysplasia characterized by extremely small stature with short arms and legs. Other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism. This condition, caused by mutations in the TRPV4 gene, may be inherited in either an autosomal dominant or autosomal recessive manner. Treatment is symptomatic and supportive.³⁰

MalaCards: Metatropic Dysplasia, also known as metatropic dysplasia, nonlethal dominant, is related to ectodermal dysplasia and multiple epiphyseal dysplasia. An important gene associated with Metatropic Dysplasia is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

Genetics Home Reference: Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change over time.¹⁷

OMIM: 156530

metatropic dysplasia 30 16 17 33 metatropic dysplasia, nonlethal dominant 30

metatropic dwarfism 30 dysplasia 43

Diseases related to metatropic dysplasia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 747)

id	Related Disease	Score	Top Affiliating Genes
1	ectodermal dysplasia	10.4
2	multiple epiphyseal dysplasia	9.7
3	hypohidrotic ectodermal dysplasia	9.6
4	bronchopulmonary dysplasia	9.6
5	cleidocranial dysplasia	9.4
6	spondyloepiphyseal dysplasia	9.2
7	epiphyseal dysplasia	9.1
8	thanatophoric dysplasia	9.1
9	campomelic dysplasia	9.0
10	fibrous dysplasia	9.0
11	oculodentodigital dysplasia	8.8
12	diastrophic dysplasia	8.8
13	arrhythmogenic right ventricular dysplasia	8.6
14	x-linked spondyloepiphyseal dysplasia tarda	8.5
15	spondyloepiphyseal dysplasia tarda	8.3
16	spondyloepimetaphyseal dysplasia, strudwick type	8.3
17	dentin dysplasia	8.2
18	otospondylomegaepiphyseal dysplasia	8.2
19	focal cortical dysplasia	8.1
20	craniometaphyseal dysplasia	8.1
21	pseudoachondroplasia	8.1
22	spondyloepiphyseal dysplasia congenita	8.0
23	barrett's esophagus	8.0
24	cervicitis	8.0
25	septooptic dysplasia	7.9
26	schimke immunoosseous dysplasia	7.7
27	clouston syndrome	7.7
28	mccune albright syndrome	7.7
29	greenberg dysplasia	7.6
30	osseous dysplasia	7.6
31	chst3-related skeletal dysplasia	7.6
32	kniest dysplasia	7.6
33	cardiomyopathy	7.5
34	langer mesomelic dysplasia	7.4
35	boomerang dysplasia	7.3
36	immunodeficiency	7.3
37	acromesomelic dysplasia	7.2
38	sex reversal	7.2
39	ectodermal dysplasia/skin fragility syndrome	7.1
40	osteofibrous dysplasia	7.1
41	spondyloperipheral dysplasia	7.1
42	sost-related sclerosing bone dysplasia	7.1
43	alveolar capillary dysplasia	7.0
44	craniometaphyseal dysplasia, autosomal dominant	6.9
45	czech dysplasia	6.9
46	fibromuscular dysplasia	6.9
47	frontometaphyseal dysplasia	6.9
48	multiple epiphyseal dysplasia, recessive	6.9
49	multiple epiphyseal dysplasia 4	6.9
50	platyspondylic lethal skeletal dysplasia torrance type	6.9

Clinical features from OMIM: 156530

Approved drugs:

Drug clinical trials:

Genetic tests related to metatropic dysplasia:

id	Genetic test	Affiliating Genes
1	Metatropic Dysplasia clinical/research	TRPV4

Articles related to metatropic dysplasia:

id	Title	Authors	Year	Affiliating Genes
1	Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? (21964829)	Unger S.... Superti-Furga A.	2011	TRPV4
2	Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. (19232556)	Krakow D.... Cohn D.H.	2009	TRPV4

Genes related to metatropic dysplasia according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TRPV4	transient receptor potential cation channel, subfamily V, member 4	11.1	Disorders, Publications, Summaries