MCID: PRS051
MIFTS: 31

Parastremmatic Dwarfism malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Parastremmatic Dwarfism

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Parastremmatic Dwarfism:

Name: Parastremmatic Dwarfism 49 11 45 22 51 24 65 67
Parastremmatic Dysplasia 45
 
Pstd 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
parastremmatic dwarfism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 168400
Orphanet51 2646
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C537172
UMLS via Orphanet66 C1868616
MedGen34 C1868616
MeSH36 D004392

Summaries for Parastremmatic Dwarfism

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UniProtKB/Swiss-Prot:67 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:68 Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type... more...

Description from OMIM:49 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

Symptoms:

 51 (show all 25)
  • short neck
  • rib structure anomalies
  • kyphosis
  • scoliosis
  • platyspondyly
  • lack/delayed ossification of spine/vertebrae
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • short hand/brachydactyly
  • genu valgum
  • short foot/brachydactyly of toes
  • abnormal gait
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • rough trabeculation of bone
  • metaphyseal anomaly
  • epiphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • brachycephaly/flat occiput
  • frontal bossing/prominent forehead
  • high forehead
  • pectus carinatum
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • genu varum

HPO human phenotypes related to Parastremmatic Dwarfism:

(show all 28)
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 autosomal dominant inheritance HP:0000006
23 short neck HP:0000470
24 flexion contracture HP:0001371
25 scoliosis HP:0002650
26 kyphosis HP:0002808
27 genu valgum HP:0002857
28 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 Dwarfism22 24 TRPV4

Anatomical Context for Parastremmatic Dwarfism

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MalaCards organs/tissues related to Parastremmatic Dwarfism:

33
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:

67
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg594HisVAR_062333

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet