MCID: PRS051
MIFTS: 32

Parastremmatic Dwarfism malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Parastremmatic Dwarfism

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Wikipedia:65 Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type... more...

MalaCards based summary: Parastremmatic Dwarfism, also known as parastremmatic dysplasia, is related to dwarfism and osteogenesis imperfecta, and has symptoms including short neck, abnormality of the ribs and platyspondyly. An important gene associated with Parastremmatic Dwarfism is TRPV4 (transient receptor potential cation channel, subfamily V, member 4). Affiliated tissues include bone.

Description from OMIM:47 168400

Aliases & Classifications for Parastremmatic Dwarfism

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 49Orphanet, 24GTR, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Parastremmatic Dwarfism, Aliases & Descriptions:

Name: Parastremmatic Dwarfism 47 11 43 22 49 24 62
 
Parastremmatic Dysplasia 43 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

49
parastremmatic dwarfism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM47 168400
Orphanet49 2646
MESH via Orphanet36 C537172
ICD10 via Orphanet28 Q87.1
UMLS via Orphanet63 C1868616

Related Diseases for Parastremmatic Dwarfism

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

idRelated DiseaseScoreTop Affiliating Genes
1dwarfism10.6
2osteogenesis imperfecta10.2
3muscular atrophy10.0TRPV4
4brachyolmia type 310.0TRPV4
5metatropic dysplasia10.0TRPV4

Graphical network of diseases related to Parastremmatic Dwarfism:



Diseases related to parastremmatic dwarfism

Symptoms for Parastremmatic Dwarfism

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Symptoms by clinical synopsis from OMIM:

168400

Clinical features from OMIM:

168400

Symptoms:

 49 (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 29)
id Description Frequency HPO Source Accession
1 short neck hallmark (90%) HP:0000470
2 abnormality of the ribs hallmark (90%) HP:0000772
3 platyspondyly hallmark (90%) HP:0000926
4 abnormality of the metaphyses hallmark (90%) HP:0000944
5 brachydactyly syndrome hallmark (90%) HP:0001156
6 gait disturbance hallmark (90%) HP:0001288
7 limitation of joint mobility hallmark (90%) HP:0001376
8 short toe hallmark (90%) HP:0001831
9 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
10 scoliosis hallmark (90%) HP:0002650
11 kyphosis hallmark (90%) HP:0002808
12 genu valgum hallmark (90%) HP:0002857
13 short stature hallmark (90%) HP:0004322
14 reduced bone mineral density hallmark (90%) HP:0004349
15 abnormality of the epiphyses hallmark (90%) HP:0005930
16 abnormal vertebral ossification hallmark (90%) HP:0100569
17 rough bone trabeculation hallmark (90%) HP:0100670
18 high forehead typical (50%) HP:0000348
19 pectus carinatum typical (50%) HP:0000768
20 frontal bossing typical (50%) HP:0002007
21 genu varum typical (50%) HP:0002970
22 lower limb asymmetry typical (50%) HP:0100559
23 autosomal dominant inheritance HP:0000006
24 short neck HP:0000470
25 flexion contracture HP:0001371
26 scoliosis HP:0002650
27 kyphosis HP:0002808
28 genu valgum HP:0002857
29 severe short stature HP:0003510

Drugs & Therapeutics for Parastremmatic Dwarfism

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Drug clinical trials:

Search ClinicalTrials for Parastremmatic Dwarfism

Search NIH Clinical Center for Parastremmatic Dwarfism

Genetic Tests for Parastremmatic Dwarfism

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Genetic tests related to Parastremmatic Dwarfism:

id Genetic test Affiliating Genes
1 Parastremmatic Dwarfism22 24 TRPV4

Anatomical Context for Parastremmatic Dwarfism

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MalaCards organs/tissues related to Parastremmatic Dwarfism:

33
Bone

Animal Models for Parastremmatic Dwarfism or affiliated genes

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Publications for Parastremmatic Dwarfism

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Articles related to Parastremmatic Dwarfism:

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

Variations for Parastremmatic Dwarfism

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

64
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg594HisVAR_062333

Clinvar genetic disease variations for Parastremmatic Dwarfism:

7
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

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Search GEO for disease gene expression data for Parastremmatic Dwarfism.

Pathways for genes affiliated with Parastremmatic Dwarfism

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Compounds for genes affiliated with Parastremmatic Dwarfism

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GO Terms for genes affiliated with Parastremmatic Dwarfism

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Products for genes affiliated with Parastremmatic Dwarfism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Parastremmatic Dwarfism

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet