PSTD
MCID: PRS051
MIFTS: 40

Parastremmatic Dwarfism (PSTD)

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

Aliases & Classifications for Parastremmatic Dwarfism

MalaCards integrated aliases for Parastremmatic Dwarfism:

Name: Parastremmatic Dwarfism 57 12 74 20 58 73 36 29 13 6 44 15 71
Parastremmatic Dysplasia 12 20
Dwarfism, Parastremmatic 39
Pstd 73

Characteristics:

Orphanet epidemiological data:

58
parastremmatic dwarfism
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
parastremmatic dwarfism:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111539
OMIM® 57 168400
KEGG 36 H02183
SNOMED-CT 67 722210007
MESH via Orphanet 45 C537172
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C1868616
Orphanet 58 ORPHA2646
MedGen 41 C1868616
UMLS 71 C1868616

Summaries for Parastremmatic Dwarfism

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2646DefinitionA very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.EpidemiologyOnly 5 cases have been described to date.Clinical descriptionRadiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture.EtiologyThe syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1).Visit the Orphanet disease page for more resources.

MalaCards based summary : Parastremmatic Dwarfism, also known as parastremmatic dysplasia, is related to brachyolmia and spondylometaphyseal dysplasia, kozlowski type. An important gene associated with Parastremmatic Dwarfism is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Affiliated tissues include bone, and related phenotypes are scoliosis and kyphosis

Disease Ontology : 12 An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has material basis in heterozygous mutation in TRPV4 on chromosome 12q24.11.

KEGG : 36 Parastremmatic dwarfism is a rare disorder, caused by TRPV4 mutations. Clinical symptoms include shortening of the trunk because of platyspondyly and scoliosis, as well as flexum deformity in both knees. The term "parastremmatic" is used from the Greek parastremma (distorted limb).

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type... more...

More information from OMIM: 168400

Related Diseases for Parastremmatic Dwarfism

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 brachyolmia 30.1 TRPV4 PACSIN3
2 spondylometaphyseal dysplasia, kozlowski type 29.8 TRPV4 PACSIN3 MCOLN1
3 metatropic dysplasia 29.8 TRPV4 PACSIN3 MCOLN1
4 spondyloepiphyseal dysplasia, maroteaux type 28.7 TRPV4 TRPA1 PKD1L3 PACSIN3 MCOLN1
5 dwarfism 10.4
6 charcot-marie-tooth disease, axonal, type 2dd 10.1 ATP1A4 ATP1A1
7 mucolipidosis iv 10.1 TRPV4 MCOLN1
8 brittle bone disorder 10.1
9 facial dermatosis 10.1 TRPV4 TRPA1
10 hyperaldosteronism, familial, type i 10.1 ATP1A4 ATP1A1
11 hereditary motor and sensory neuropathy, type iic 10.0 TRPV4 PACSIN3
12 anxiety 10.0
13 helix syndrome 10.0
14 post-traumatic stress disorder 10.0
15 mutilating palmoplantar keratoderma with periorificial keratotic plaques 10.0 TRPV4 TRPA1
16 brachyolmia type 2 10.0
17 metaphyseal dysplasia 10.0
18 morquio syndrome 10.0
19 autosomal dominant trpv4 disorders 10.0
20 skeletal dysplasias 10.0
21 paroxysmal extreme pain disorder 10.0 TRPV4 TRPA1
22 adrenal gland disease 10.0 ATP1A4 ATP1A1
23 paine syndrome 10.0 TRPV4 TRPA1
24 obsessive-compulsive disorder 9.9
25 major depressive disorder 9.9
26 mental depression 9.9
27 psychotic disorder 9.9
28 substance abuse 9.9
29 mood disorder 9.9
30 panic disorder 9.9
31 acute stress disorder 9.9
32 motor peripheral neuropathy 9.9 TRPV4 PACSIN3
33 familial episodic pain syndrome 9.8 TRPV4 TRPA1 MCOLN1
34 alternating hemiplegia of childhood 9.8 ATP1A4 ATP1A1
35 scapuloperoneal spinal muscular atrophy 9.8 TRPV4 TRPA1 PACSIN3

Graphical network of the top 20 diseases related to Parastremmatic Dwarfism:



Diseases related to Parastremmatic Dwarfism

Symptoms & Phenotypes for Parastremmatic Dwarfism

Human phenotypes related to Parastremmatic Dwarfism:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 short neck 31 HP:0000470
4 flexion contracture 31 HP:0001371
5 genu valgum 31 HP:0002857
6 severe short stature 31 HP:0003510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Spine:
scoliosis
kyphosis

Head:
normocephaly

Joints:
joint contractures

Growth:
dwarfism identifiable during late infancy
average adult height: 90 to 110 cm

Neck:
short neck

Neuro:
normal intelligence

Limbs:
bowing of long bones
severe genu valgum
legs twisted along the long axis

Radiology:
coarse bone trabeculations with areas of irregular, dense stippling and streaking
lace-like border of the iliac crests

Clinical features from OMIM®:

168400 (Updated 05-Mar-2021)

Drugs & Therapeutics for Parastremmatic Dwarfism

Search Clinical Trials , NIH Clinical Center for Parastremmatic Dwarfism

Cochrane evidence based reviews: parastremmatic dwarfism

Genetic Tests for Parastremmatic Dwarfism

Genetic tests related to Parastremmatic Dwarfism:

# Genetic test Affiliating Genes
1 Parastremmatic Dwarfism 29 TRPV4

Anatomical Context for Parastremmatic Dwarfism

MalaCards organs/tissues related to Parastremmatic Dwarfism:

40
Bone

Publications for Parastremmatic Dwarfism

Articles related to Parastremmatic Dwarfism:

(show all 16)
# Title Authors PMID Year
1
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. 6 61 57
20503319 2010
2
Parastremmatic dwarfism. 57 61
956253 1976
3
An unusual bone dysplasia: parastremmatic dwarfism. 61 57
4992387 1970
4
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 6
20577006 2010
5
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 6
19232556 2009
6
Autosomal Dominant TRPV4 Disorders 61
24830047 2014
7
Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation. 61
23143559 2012
8
TRPV4-associated skeletal dysplasias. 61
22791502 2012
9
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. 61
22419508 2012
10
TRPV4-pathy, a novel channelopathy affecting diverse systems. 61
20505684 2010
11
Tufting enteropathy and skeletal dysplasia: is there a link? 61
16900309 2007
12
[Parastremmatic dysplasia]. 61
11528849 2001
13
[Study by gel electrophoresis, of alpha chains and of CNBr peptides of collagen from epiphyseal cartilage in chondrodysplasia]. 61
1085600 1976
14
Simultaneous parastremmatic dwarfism and osteogenesis imperfecta. 61
4218783 1974
15
Parastremmatic dwarfism. 61
4461074 1974
16
Parastremmatic dwarfism. 61
4791787 1973

Variations for Parastremmatic Dwarfism

ClinVar genetic disease variations for Parastremmatic Dwarfism:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPV4 NM_021625.4(TRPV4):c.1781G>A (p.Arg594His) SNV Pathogenic 4994 rs77975504 12:110230500-110230500 12:109792695-109792695
2 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His) SNV Pathogenic 5000 rs267607144 12:110238470-110238470 12:109800665-109800665
3 TRPV4 NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) SNV Pathogenic 4998 rs121912637 12:110222183-110222183 12:109784378-109784378
4 TRPV4 NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) SNV Uncertain significance 448709 rs375851168 12:110222154-110222154 12:109784349-109784349
5 TRPV4 NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) SNV Uncertain significance 521109 rs201132615 12:110232249-110232249 12:109794444-109794444
6 TRPV4 NM_021625.4(TRPV4):c.569C>T (p.Thr190Met) SNV Uncertain significance 424209 rs1031096826 12:110240939-110240939 12:109803134-109803134
7 TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) SNV Uncertain significance 409288 rs779715512 12:110226437-110226437 12:109788632-109788632
8 TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) SNV Uncertain significance 575960 rs770149544 12:110252418-110252418 12:109814613-109814613

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

73
# Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg594His VAR_062333 rs77975504

Expression for Parastremmatic Dwarfism

Search GEO for disease gene expression data for Parastremmatic Dwarfism.

Pathways for Parastremmatic Dwarfism

Pathways related to Parastremmatic Dwarfism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 TRPV4 TRPA1 MCOLN1 ATP1A4 ATP1A1
2
Show member pathways
11.52 TRPV4 TRPA1 MCOLN1 ATP1A4 ATP1A1
3 11.2 ATP1A4 ATP1A1
4 11.13 ATP1A4 ATP1A1
5 11.04 ATP1A4 ATP1A1
6 10.89 ATP1A4 ATP1A1
7 10.53 TRPV4 TRPA1 MCOLN1
8 10.52 ATP1A4 ATP1A1

GO Terms for Parastremmatic Dwarfism

Cellular components related to Parastremmatic Dwarfism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.56 TRPV4 TRPA1 PKD1L3 PACSIN3 MCOLN1 ATP1A4
2 endosome GO:0005768 9.46 PACSIN3 MCOLN1 ATP1A1 ANKRD27
3 sodium:potassium-exchanging ATPase complex GO:0005890 8.62 ATP1A4 ATP1A1

Biological processes related to Parastremmatic Dwarfism according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.56 TRPV4 TRPA1 PKD1L3 MCOLN1
2 cation transport GO:0006812 9.52 PKD1L3 MCOLN1
3 protein homotetramerization GO:0051289 9.51 TRPA1 MCOLN1
4 regulation of cardiac conduction GO:1903779 9.49 ATP1A4 ATP1A1
5 potassium ion import across plasma membrane GO:1990573 9.48 ATP1A4 ATP1A1
6 release of sequestered calcium ion into cytosol GO:0051209 9.46 TRPA1 MCOLN1
7 calcium ion transmembrane transport GO:0070588 9.46 TRPV4 TRPA1 PKD1L3 MCOLN1
8 cellular sodium ion homeostasis GO:0006883 9.43 ATP1A4 ATP1A1
9 ion transport GO:0006811 9.43 TRPV4 TRPA1 PKD1L3 MCOLN1 ATP1A4 ATP1A1
10 sodium ion export across plasma membrane GO:0036376 9.4 ATP1A4 ATP1A1
11 cellular potassium ion homeostasis GO:0030007 9.37 ATP1A4 ATP1A1
12 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.32 ATP1A4 ATP1A1
13 ion transmembrane transport GO:0034220 9.02 TRPV4 TRPA1 MCOLN1 ATP1A4 ATP1A1

Molecular functions related to Parastremmatic Dwarfism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.5 TRPV4 PACSIN3 MCOLN1
2 calcium channel activity GO:0005262 9.33 TRPV4 TRPA1 PKD1L3
3 sodium:potassium-exchanging ATPase activity GO:0005391 9.26 ATP1A4 ATP1A1
4 potassium-transporting ATPase activity GO:0008556 8.96 ATP1A4 ATP1A1
5 cation channel activity GO:0005261 8.8 TRPV4 PKD1L3 MCOLN1

Sources for Parastremmatic Dwarfism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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