MCID: PRS051
MIFTS: 31

Parastremmatic Dwarfism malady

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

Aliases & Classifications for Parastremmatic Dwarfism

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Parastremmatic Dwarfism:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
parastremmatic dwarfism:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 168400
Orphanet51 2646
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C537172
UMLS via Orphanet66 C1868616
MedGen34 C1868616
MeSH36 D004392
UMLS65 C1868616

Summaries for Parastremmatic Dwarfism

About this section
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 spinal stenosis and substance dependence, and has symptoms including rough bone trabeculation, abnormal vertebral ossification and abnormality of epiphysis morphology. An important gene associated with Parastremmatic Dwarfism is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone and skin.

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

About this section

Graphical network of diseases related to Parastremmatic Dwarfism:



Diseases related to parastremmatic dwarfism

Symptoms for Parastremmatic Dwarfism

About this section

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 27)
id Description Frequency HPO Source Accession
1 rough bone trabeculation hallmark (90%) HP:0100670
2 abnormal vertebral ossification hallmark (90%) HP:0100569
3 abnormality of epiphysis morphology hallmark (90%) HP:0005930
4 reduced bone mineral density hallmark (90%) HP:0004349
5 genu valgum hallmark (90%) HP:0002857
6 kyphosis hallmark (90%) HP:0002808
7 scoliosis hallmark (90%) HP:0002650
8 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
9 short toe hallmark (90%) HP:0001831
10 limitation of joint mobility hallmark (90%) HP:0001376
11 gait disturbance hallmark (90%) HP:0001288
12 brachydactyly syndrome hallmark (90%) HP:0001156
13 abnormality of the metaphyses hallmark (90%) HP:0000944
14 platyspondyly hallmark (90%) HP:0000926
15 abnormality of the ribs hallmark (90%) HP:0000772
16 short neck hallmark (90%) HP:0000470
17 lower limb asymmetry typical (50%) HP:0100559
18 genu varum typical (50%) HP:0002970
19 frontal bossing typical (50%) HP:0002007
20 pectus carinatum typical (50%) HP:0000768
21 high forehead typical (50%) HP:0000348
22 severe short stature HP:0003510
23 genu valgum HP:0002857
24 kyphosis HP:0002808
25 scoliosis HP:0002650
26 flexion contracture HP:0001371
27 short neck HP:0000470

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 Dwarfism22 TRPV4

Anatomical Context for Parastremmatic Dwarfism

About this section

MalaCards organs/tissues related to Parastremmatic Dwarfism:

33
Bone, Skin

Animal Models for Parastremmatic Dwarfism or affiliated genes

About this section

Publications for Parastremmatic Dwarfism

About this section

Articles related to Parastremmatic Dwarfism:

idTitleAuthorsYear
1
Suicide prediction and prevention. (23935138)
2013
2
Management of regional hidradenitis suppurativa with vacuum-assisted closure and split thickness skin grafts. (21587057)
2011
3
FIP1L1/RARA with breakpoint at FIP1L1 intron 13: a variant translocation in acute promyelocytic leukemia. (21750086)
2011
4
NR2F1 and IRE1beta suppress microsomal triglyceride transfer protein expression and lipoprotein assembly in undifferentiated intestinal epithelial cells. (20007910)
2010
5
Expression of human immunodeficiency virus type 1 gag modulates ligand-induced downregulation of EGF receptor. (15507625)
2004

Variations for Parastremmatic Dwarfism

About this section

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

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
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