MCID: PRS051
MIFTS: 26

Parastremmatic Dwarfism malady

Bone diseases, Fetal diseases categories

Summaries for Parastremmatic Dwarfism

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 epiphyseal anomaly, bowed diaphysis/diaphyses/long bones and restricted joint mobility/joint stiffness/ankylosis. 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:46 168400

Aliases & Classifications for Parastremmatic Dwarfism

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
parastremmatic dwarfism:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

parastremmatic dwarfism 42 20 22 46 48 60
parastremmatic dysplasia 42


External Ids:

OMIM46 168400
MESH via Orphanet35 C537172
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet57 254095002
UMLS via Orphanet61 C1868616

Related Diseases for Parastremmatic Dwarfism

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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
3muscular atrophy10.0TRPV4

Clinical Features for Parastremmatic Dwarfism

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

168400

Clinical synopsis from OMIM:

168400

Symptoms:

48 (show all 25)
  • 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
  • metaphyseal anomaly
  • rough trabeculation of bone
  • 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
  • short neck

Drugs & Therapeutics for Parastremmatic Dwarfism

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Sources:
5CenterWatch, 41NIH 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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Parastremmatic Dwarfism:

32
Bone

Animal Models for Parastremmatic Dwarfism or affiliated genes

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Publications for Parastremmatic Dwarfism

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Genetic Variations for Parastremmatic Dwarfism

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Parastremmatic Dwarfism:

62
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg594HisVAR_062333

Expression for genes affiliated with Parastremmatic Dwarfism

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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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

Sources for Parastremmatic Dwarfism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet