MCID: PRS051
MIFTS: 29

Parastremmatic Dwarfism malady

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

Aliases & Classifications for Parastremmatic Dwarfism

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Parastremmatic Dwarfism:

Name: Parastremmatic Dwarfism 50 46 23 52 68 25 12 66
Parastremmatic Dysplasia 46
 
Pstd 68

Characteristics:

Orphanet epidemiological data:

52
parastremmatic dwarfism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
parastremmatic dwarfism:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 168400
Orphanet52 ORPHA2646
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 C537172
UMLS via Orphanet67 C1868616
MedGen35 C1868616
MeSH37 D004392

Summaries for Parastremmatic Dwarfism

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UniProtKB/Swiss-Prot:68 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:69 Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type... more...

Description from OMIM:50 168400

Related Diseases for Parastremmatic Dwarfism

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Graphical network of diseases related to Parastremmatic Dwarfism:



Diseases related to parastremmatic dwarfism

Symptoms for Parastremmatic Dwarfism

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Symptoms by clinical synopsis from OMIM:

168400

Clinical features from OMIM:

168400

HPO human phenotypes related to Parastremmatic Dwarfism:

(show all 27)
id Description Frequency HPO Source Accession
1 short neck hallmark (90%) HP:0000470
2 abnormality of the ribs hallmark (90%) HP:0000772
3 platyspondyly hallmark (90%) HP:0000926
4 abnormality of the metaphyses hallmark (90%) HP:0000944
5 brachydactyly syndrome hallmark (90%) HP:0001156
6 gait disturbance hallmark (90%) HP:0001288
7 limitation of joint mobility hallmark (90%) HP:0001376
8 short toe hallmark (90%) HP:0001831
9 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
10 scoliosis hallmark (90%) HP:0002650
11 kyphosis hallmark (90%) HP:0002808
12 genu valgum hallmark (90%) HP:0002857
13 reduced bone mineral density hallmark (90%) HP:0004349
14 abnormality of epiphysis morphology hallmark (90%) HP:0005930
15 abnormal vertebral ossification hallmark (90%) HP:0100569
16 rough bone trabeculation hallmark (90%) HP:0100670
17 high forehead typical (50%) HP:0000348
18 pectus carinatum typical (50%) HP:0000768
19 frontal bossing typical (50%) HP:0002007
20 genu varum typical (50%) HP:0002970
21 lower limb asymmetry typical (50%) HP:0100559
22 short neck HP:0000470
23 flexion contracture HP:0001371
24 scoliosis HP:0002650
25 kyphosis HP:0002808
26 genu valgum HP:0002857
27 severe short stature 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 Dwarfism25 23 TRPV4

Anatomical Context for Parastremmatic Dwarfism

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MalaCards organs/tissues related to Parastremmatic Dwarfism:

34
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:

68
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)single nucleotide variantPathogenicrs77975504GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet