PSTD
MCID: PRS051
MIFTS: 24

Parastremmatic Dwarfism (PSTD) malady

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

Aliases & Classifications for Parastremmatic Dwarfism

About this section
Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Parastremmatic Dwarfism:

Name: Parastremmatic Dwarfism 52 48 24 54 70 27 12 68
Parastremmatic Dysplasia 48
 
Pstd 70

Characteristics:

Orphanet epidemiological data:

54
parastremmatic dwarfism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

64
parastremmatic dwarfism:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 168400
Orphanet54 ORPHA2646
MESH via Orphanet40 C537172
ICD10 via Orphanet31 Q87.1
UMLS via Orphanet69 C1868616
MedGen37 C1868616
MeSH39 D004392

Summaries for Parastremmatic Dwarfism

About this section
UniProtKB/Swiss-Prot:70 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, flexion contracture and scoliosis. An important gene associated with Parastremmatic Dwarfism is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone.

Wikipedia:71 Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type... more...

Description from OMIM:52 168400

Related Diseases for Parastremmatic Dwarfism

About this section

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 & Phenotypes for Parastremmatic Dwarfism

About this section

Symptoms by clinical synopsis from OMIM:

168400

Clinical features from OMIM:

168400

Human phenotypes related to Parastremmatic Dwarfism:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 short neck64 HP:0000470
2 flexion contracture64 HP:0001371
3 scoliosis64 HP:0002650
4 kyphosis64 HP:0002808
5 genu valgum64 HP:0002857
6 severe short stature64 HP:0003510

Drugs & Therapeutics for Parastremmatic Dwarfism

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Parastremmatic Dwarfism

Genetic Tests for Parastremmatic Dwarfism

About this section

Genetic tests related to Parastremmatic Dwarfism:

id Genetic test Affiliating Genes
1 Parastremmatic Dwarfism27 24 TRPV4

Anatomical Context for Parastremmatic Dwarfism

About this section

MalaCards organs/tissues related to Parastremmatic Dwarfism:

36
Bone

Publications for Parastremmatic Dwarfism

About this section

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

About this section

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

70
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

About this section
Search GEO for disease gene expression data for Parastremmatic Dwarfism.

Pathways for genes affiliated with Parastremmatic Dwarfism

About this section

GO Terms for genes affiliated with Parastremmatic Dwarfism

About this section

Sources for Parastremmatic Dwarfism

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet