MCID: PRS051
MIFTS: 25

Parastremmatic Dwarfism malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Parastremmatic Dwarfism

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Parastremmatic Dwarfism:

Name: Parastremmatic Dwarfism 51 47 24 53 69 26 12 67
Parastremmatic Dysplasia 47
 
Pstd 69

Characteristics:

Orphanet epidemiological data:

53
parastremmatic dwarfism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

63
parastremmatic dwarfism:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 168400
Orphanet53 ORPHA2646
MESH via Orphanet39 C537172
ICD10 via Orphanet30 Q87.1
UMLS via Orphanet68 C1868616
MedGen36 C1868616
MeSH38 D004392

Summaries for Parastremmatic Dwarfism

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UniProtKB/Swiss-Prot:69 Parastremmatic dwarfism: A bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion and bowing of the extremities, and contractures of the large joints. Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses.

MalaCards based summary: Parastremmatic Dwarfism, also known as parastremmatic dysplasia, is related to dwarfism and osteogenesis imperfecta, and has symptoms including short neck, abnormality of the ribs and platyspondyly. An important gene associated with Parastremmatic Dwarfism is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone.

Wikipedia:70 Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type... more...

Description from OMIM:51 168400

Related Diseases for Parastremmatic Dwarfism

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Diseases related to Parastremmatic Dwarfism via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dwarfism10.3
2osteogenesis imperfecta10.0

Symptoms for Parastremmatic Dwarfism

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Symptoms by clinical synopsis from OMIM:

168400

Clinical features from OMIM:

168400

Human phenotypes related to Parastremmatic Dwarfism:

 63 (show all 23)
id Description HPO Frequency HPO Source Accession
1 short neck63 hallmark (90%) HP:0000470
2 abnormality of the ribs63 hallmark (90%) HP:0000772
3 platyspondyly63 hallmark (90%) HP:0000926
4 abnormality of the metaphyses63 hallmark (90%) HP:0000944
5 brachydactyly syndrome63 hallmark (90%) HP:0001156
6 gait disturbance63 hallmark (90%) HP:0001288
7 limitation of joint mobility63 hallmark (90%) HP:0001376
8 short toe63 hallmark (90%) HP:0001831
9 abnormality of pelvic girdle bone morphology63 hallmark (90%) HP:0002644
10 scoliosis63 hallmark (90%) HP:0002650
11 kyphosis63 hallmark (90%) HP:0002808
12 genu valgum63 hallmark (90%) HP:0002857
13 reduced bone mineral density63 hallmark (90%) HP:0004349
14 abnormality of epiphysis morphology63 hallmark (90%) HP:0005930
15 abnormal vertebral ossification63 hallmark (90%) HP:0100569
16 rough bone trabeculation63 hallmark (90%) HP:0100670
17 high forehead63 typical (50%) HP:0000348
18 pectus carinatum63 typical (50%) HP:0000768
19 frontal bossing63 typical (50%) HP:0002007
20 genu varum63 typical (50%) HP:0002970
21 lower limb asymmetry63 typical (50%) HP:0100559
22 flexion contracture63 HP:0001371
23 severe short stature63 HP:0003510

Drugs & Therapeutics for Parastremmatic Dwarfism

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Parastremmatic Dwarfism

Genetic Tests for Parastremmatic Dwarfism

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Genetic tests related to Parastremmatic Dwarfism:

id Genetic test Affiliating Genes
1 Parastremmatic Dwarfism26 24 TRPV4

Anatomical Context for Parastremmatic Dwarfism

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MalaCards organs/tissues related to Parastremmatic Dwarfism:

35
Bone

Animal Models for Parastremmatic Dwarfism or affiliated genes

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Publications for Parastremmatic Dwarfism

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Articles related to Parastremmatic Dwarfism:

idTitleAuthorsYear
1
Parastremmatic dwarfism. (956253)
1976
2
Parastremmatic dwarfism. (4461074)
1974
3
Simultaneous parastremmatic dwarfism and osteogenesis imperfecta. (4218783)
1974
4
Parastremmatic dwarfism. (4791787)
1973
5
An unusual bone dysplasia: parastremmatic dwarfism. (4992387)
1970

Variations for Parastremmatic Dwarfism

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UniProtKB/Swiss-Prot genetic disease variations for Parastremmatic Dwarfism:

69
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg594HisVAR_062333rs77975504

Clinvar genetic disease variations for Parastremmatic Dwarfism:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.1781G> A (p.Arg594His)SNVPathogenicrs77975504GRCh37Chr 12, 110230500: 110230500

Expression for genes affiliated with Parastremmatic Dwarfism

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Search GEO for disease gene expression data for Parastremmatic Dwarfism.

Pathways for genes affiliated with Parastremmatic Dwarfism

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GO Terms for genes affiliated with Parastremmatic Dwarfism

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Sources for Parastremmatic Dwarfism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet