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 57 76 53 59 75 29 13 6 73
Parastremmatic Dysplasia 53
Dwarfism, Parastremmatic 40
Pstd 75

Characteristics:

Orphanet epidemiological data:

59
parastremmatic dwarfism
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
parastremmatic dwarfism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 168400
Orphanet 59 ORPHA2646
MESH via Orphanet 45 C537172
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 74 C1868616
MedGen 42 C1868616
MeSH 44 D004392
UMLS 73 C1868616

Summaries for Parastremmatic Dwarfism

NIH Rare Diseases : 53 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.

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

UniProtKB/Swiss-Prot : 75 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 : 76 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:

57
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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 flexion contracture 32 HP:0001371
3 scoliosis 32 HP:0002650
4 kyphosis 32 HP:0002808
5 genu valgum 32 HP:0002857
6 severe short stature 32 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 29 TRPV4

Anatomical Context for Parastremmatic Dwarfism

MalaCards organs/tissues related to Parastremmatic Dwarfism:

41
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:

75
# 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
2 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh38 Chromosome 12, 109792695: 109792695

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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