MCID: PRS051
MIFTS: 24

Parastremmatic Dwarfism malady

Bone, Fetal categories

Summaries for Parastremmatic Dwarfism

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type... more...

MalaCards: Parastremmatic Dwarfism, also known as parastremmatic dysplasia, is related to dwarfism and osteogenesis imperfecta, and has symptoms including short neck, rib structure anomalies and kyphosis. An important gene associated with Parastremmatic Dwarfism is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

Description from OMIM:47 168400

Aliases & Classifications for Parastremmatic Dwarfism

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
parastremmatic dwarfism:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

parastremmatic dwarfism 43 20 22 47 49 61
parastremmatic dysplasia 43


External Ids:

OMIM47 168400
MESH via Orphanet36 C537172
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet58 254095002
UMLS via Orphanet62 C1868616

Related Diseases for Parastremmatic Dwarfism

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Parastremmatic Dwarfism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dwarfism10.5
2osteogenesis imperfecta10.2
3morquio syndrome c10.2
4muscular atrophy10.0TRPV4

Clinical Features for Parastremmatic Dwarfism

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

168400

Clinical synopsis 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

Drugs & Therapeutics for Parastremmatic Dwarfism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Parastremmatic Dwarfism

Drug clinical trials:

Search ClinicalTrials for Parastremmatic Dwarfism

Search NIH Clinical Center for Parastremmatic Dwarfism

Search CenterWatch for Parastremmatic Dwarfism

Genetic Tests for Parastremmatic Dwarfism

Sources:
20GeneTests, 22GTR
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Genetic tests related to Parastremmatic Dwarfism:

id Genetic test Affiliating Genes
1 Parastremmatic Dwarfism20 22 TRPV4

Anatomical Context for Parastremmatic Dwarfism

Animal Models for Parastremmatic Dwarfism or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Parastremmatic Dwarfism

Sources:
51PubMed
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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

Genetic Variations for Parastremmatic Dwarfism

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Parastremmatic Dwarfism:

63
id Symbol AA change Variation SNP ID
1TRPV4p.Arg594HisVAR_062333

Expression for genes affiliated with Parastremmatic Dwarfism

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Parastremmatic Dwarfism

Search GEO for disease gene expression data for Parastremmatic Dwarfism.

Pathways for genes affiliated with Parastremmatic Dwarfism

Compounds for genes affiliated with Parastremmatic Dwarfism

GO Terms for genes affiliated with Parastremmatic Dwarfism

Products for genes affiliated with Parastremmatic Dwarfism

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parastremmatic Dwarfism

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet