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 56 12 74 52 58 73 36 29 13 6 43 15 71
Parastremmatic Dysplasia 12 52
Dwarfism, Parastremmatic 39
Pstd 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 168400
KEGG 36 H02183
SNOMED-CT 67 722210007
MESH via Orphanet 44 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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2646 Definition A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. Epidemiology Only 5 cases have been described to date. Clinical description Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. Etiology The 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 spondylometaphyseal dysplasia, kozlowski type and metatropic dysplasia. 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 Ion channel transport and Mineral absorption. Affiliated tissues include bone, and related phenotypes are short neck and scoliosis

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.

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 spondylometaphyseal dysplasia, kozlowski type 30.4 TRPV4 PACSIN3
2 metatropic dysplasia 30.4 TRPV4 PACSIN3
3 brachyolmia 30.3 TRPV4 PACSIN3
4 spondyloepiphyseal dysplasia, maroteaux type 28.5 TRPV4 TRPA1 PKDREJ PKD1L3 PACSIN3
5 dwarfism 10.6
6 anxiety 10.3
7 brittle bone disorder 10.3
8 charcot-marie-tooth disease, axonal, type 2dd 10.2 ATP1A4 ATP1A1
9 brachyolmia type 2 10.2
10 metaphyseal dysplasia 10.2
11 morquio syndrome 10.2
12 skeletal dysplasias 10.2
13 obsessive-compulsive disorder 10.1
14 major depressive disorder 10.1
15 helix syndrome 10.1
16 mental depression 10.1
17 post-traumatic stress disorder 10.1
18 psychotic disorder 10.1
19 substance abuse 10.1
20 mood disorder 10.1
21 panic disorder 10.1
22 acute stress disorder 10.1
23 depression 10.1
24 hereditary motor and sensory neuropathy, type iic 10.1 TRPV4 PACSIN3
25 hyperaldosteronism, familial, type i 10.1 ATP1A4 ATP1A1
26 dentin sensitivity 10.0 TRPV4 TRPA1
27 adrenal gland disease 10.0 ATP1A4 ATP1A1
28 familial episodic pain syndrome 9.9 TRPV4 TRPA1
29 paine syndrome 9.8 TRPV4 TRPA1
30 motor peripheral neuropathy 9.8 TRPV4 PACSIN3
31 alternating hemiplegia of childhood 9.7 ATP1A4 ATP1A1
32 scapuloperoneal spinal muscular atrophy 9.7 TRPV4 TRPA1 PACSIN3
33 polycystic kidney disease 2 with or without polycystic liver disease 9.6 TRPV4 PKDREJ PKD1L3
34 polycystic kidney disease 9.6 TRPV4 PKDREJ PKD1L3
35 cystic kidney disease 9.6 TRPV4 PKDREJ PKD1L3

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 short neck 31 HP:0000470
2 scoliosis 31 HP:0002650
3 kyphosis 31 HP:0002808
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:

56
Neck:
short neck

Head:
normocephaly

Joints:
joint contractures

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

Spine:
scoliosis
kyphosis

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

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 56 61
20503319 2010
2
TRPV4-Associated Disorders 6 61
24830047 2014
3
Parastremmatic dwarfism. 61 56
956253 1976
4
An unusual bone dysplasia: parastremmatic dwarfism. 56 61
4992387 1970
5
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 6
20577006 2010
6
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 6
19232556 2009
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/Likely pathogenic 5000 rs267607144 12:110238470-110238470 12:109800665-109800665
3 TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu)SNV Uncertain significance 409288 rs779715512 12:110226437-110226437 12:109788632-109788632
4 TRPV4 NM_021625.4(TRPV4):c.569C>T (p.Thr190Met)SNV Uncertain significance 424209 rs1031096826 12:110240939-110240939 12:109803134-109803134
5 TRPV4 NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser)SNV Uncertain significance 448709 rs375851168 12:110222154-110222154 12:109784349-109784349
6 TRPV4 NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg)SNV Uncertain significance 521109 rs201132615 12:110232249-110232249 12:109794444-109794444
7 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
11.42 TRPV4 TRPA1 ATP1A4 ATP1A1
2 11.17 ATP1A4 ATP1A1
3 11.09 ATP1A4 ATP1A1
4 10.99 ATP1A4 ATP1A1
5 10.82 ATP1A4 ATP1A1
6 10.55 TRPV4 TRPA1
7 10.32 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 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 11)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.63 TRPV4 TRPA1 PKD1L3
2 regulation of cardiac conduction GO:1903779 9.49 ATP1A4 ATP1A1
3 potassium ion import across plasma membrane GO:1990573 9.48 ATP1A4 ATP1A1
4 ion transmembrane transport GO:0034220 9.46 TRPV4 TRPA1 ATP1A4 ATP1A1
5 cellular sodium ion homeostasis GO:0006883 9.43 ATP1A4 ATP1A1
6 sodium ion export across plasma membrane GO:0036376 9.4 ATP1A4 ATP1A1
7 cellular potassium ion homeostasis GO:0030007 9.37 ATP1A4 ATP1A1
8 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.32 ATP1A4 ATP1A1
9 detection of mechanical stimulus GO:0050982 9.26 PKDREJ PKD1L3
10 calcium ion transmembrane transport GO:0070588 9.26 TRPV4 TRPA1 PKDREJ PKD1L3
11 ion transport GO:0006811 9.1 TRPV4 TRPA1 PKDREJ PKD1L3 ATP1A4 ATP1A1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10 TRPV4 TRPA1 SAMD12 PKDREJ PKD1L3 PACSIN3
2 cation channel activity GO:0005261 9.32 TRPV4 PKD1L3
3 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP1A4 ATP1A1
4 potassium-transporting ATPase activity GO:0008556 8.96 ATP1A4 ATP1A1
5 calcium channel activity GO:0005262 8.92 TRPV4 TRPA1 PKDREJ PKD1L3

Sources for Parastremmatic Dwarfism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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