MCID: PRS051
MIFTS: 25

Parastremmatic Dwarfism

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

Aliases & Classifications for Parastremmatic Dwarfism

MalaCards integrated aliases for Parastremmatic Dwarfism:

Name: Parastremmatic Dwarfism 53 72 49 55 71 28 13 69
Parastremmatic Dysplasia 49
Pstd 71

Characteristics:

Orphanet epidemiological data:

55
parastremmatic dwarfism
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
parastremmatic dwarfism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 168400
Orphanet 55 ORPHA2646
MESH via Orphanet 42 C537172
UMLS via Orphanet 70 C1868616
ICD10 via Orphanet 33 Q87.1
MedGen 39 C1868616
MeSH 41 D004392
UMLS 69 C1868616

Summaries for Parastremmatic Dwarfism

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2646Disease definitionParastremmatic dwarfism is a 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 heterozygousmutation in the TRPV4 gene (12q24.1).Visit the Orphanet disease page for more resources. Last updated: 9/1/2011

MalaCards based summary : Parastremmatic Dwarfism, also known as parastremmatic dysplasia, is related to dwarfism and brittle bone disorder, and has symptoms including short neck, genu valgum and scoliosis. An important gene associated with Parastremmatic Dwarfism is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 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 : 72 Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type... more...

Description from OMIM: 168400

Related Diseases for Parastremmatic Dwarfism

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

# Related Disease Score Top Affiliating Genes
1 dwarfism 10.4
2 brittle bone disorder 10.1
3 morquio syndrome 10.0

Symptoms & Phenotypes for Parastremmatic Dwarfism

Symptoms via clinical synopsis from OMIM:

53
Growth:
dwarfism identifiable during late infancy
average adult height: 90 to 110 cm

Spine:
kyphosis
scoliosis

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

Neuro:
normal intelligence

Head:
normocephaly

Neck:
short neck

Joints:
joint contractures

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


Clinical features from OMIM:

168400

Human phenotypes related to Parastremmatic Dwarfism:

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

Drugs & Therapeutics for Parastremmatic Dwarfism

Search Clinical Trials , NIH Clinical Center for Parastremmatic Dwarfism

Genetic Tests for Parastremmatic Dwarfism

Genetic tests related to Parastremmatic Dwarfism:

# Genetic test Affiliating Genes
1 Parastremmatic Dwarfism 28 TRPV4

Anatomical Context for Parastremmatic Dwarfism

MalaCards organs/tissues related to Parastremmatic Dwarfism:

38
Bone

Publications for Parastremmatic Dwarfism

Articles related to Parastremmatic Dwarfism:

# Title Authors Year
1
Parastremmatic dwarfism. ( 956253 )
1976
2
Simultaneous parastremmatic dwarfism and osteogenesis imperfecta. ( 4218783 )
1974
3
Parastremmatic dwarfism. ( 4461074 )
1974
4
Parastremmatic dwarfism. ( 4791787 )
1973
5
An unusual bone dysplasia: parastremmatic dwarfism. ( 4992387 )
1970

Variations for Parastremmatic Dwarfism

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

71
# Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg594His VAR_062333 rs77975504

ClinVar genetic disease variations for Parastremmatic Dwarfism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh37 Chromosome 12, 110230500: 110230500

Expression for Parastremmatic Dwarfism

Search GEO for disease gene expression data for Parastremmatic Dwarfism.

Pathways for Parastremmatic Dwarfism

GO Terms for Parastremmatic Dwarfism

Sources for Parastremmatic Dwarfism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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