PSTD
MCID: PRS051
MIFTS: 24

Parastremmatic Dwarfism (PSTD) malady

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

Aliases & Classifications for Parastremmatic Dwarfism

Aliases & Descriptions for Parastremmatic Dwarfism:

Name: Parastremmatic Dwarfism 54 50 24 56 66 29 13 69
Parastremmatic Dysplasia 50
Pstd 66

Characteristics:

Orphanet epidemiological data:

56
parastremmatic dwarfism
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

HPO:

32
parastremmatic dwarfism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 168400
Orphanet 56 ORPHA2646
MESH via Orphanet 43 C537172
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 70 C1868616
MedGen 40 C1868616
MeSH 42 D004392

Summaries for Parastremmatic Dwarfism

UniProtKB/Swiss-Prot : 66 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, genu valgum 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: 168400

Related Diseases for Parastremmatic Dwarfism

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

id Related Disease Score Top Affiliating Genes
1 dwarfism 10.3
2 osteogenesis imperfecta 10.0

Symptoms & Phenotypes for Parastremmatic Dwarfism

Symptoms by clinical synopsis from OMIM:

168400

Clinical features from OMIM:

168400

Human phenotypes related to Parastremmatic Dwarfism:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 genu valgum 32 HP:0002857
3 scoliosis 32 HP:0002650
4 kyphosis 32 HP:0002808
5 flexion contracture 32 HP:0001371
6 severe short stature 32 HP:0003510

Drugs & Therapeutics for Parastremmatic Dwarfism

Search Clinical Trials , NIH Clinical Center for Parastremmatic Dwarfism

Genetic Tests for Parastremmatic Dwarfism

Genetic tests related to Parastremmatic Dwarfism:

id Genetic test Affiliating Genes
1 Parastremmatic Dwarfism 29 24 TRPV4

Anatomical Context for Parastremmatic Dwarfism

MalaCards organs/tissues related to Parastremmatic Dwarfism:

39
Bone

Publications for Parastremmatic Dwarfism

Articles related to Parastremmatic Dwarfism:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg594His VAR_062333 rs77975504

ClinVar genetic disease variations for Parastremmatic Dwarfism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh37 Chromosome 12, 110230500: 110230500

Expression for Parastremmatic Dwarfism

Search GEO for disease gene expression data for Parastremmatic Dwarfism.

Pathways for Parastremmatic Dwarfism

GO Terms for Parastremmatic Dwarfism

Sources for Parastremmatic Dwarfism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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