MCID: PRS051
MIFTS: 30

Parastremmatic Dwarfism malady

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

Summaries for Parastremmatic Dwarfism

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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:48 168400

Aliases & Classifications for Parastremmatic Dwarfism

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
parastremmatic dwarfism:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

parastremmatic dwarfism 44 21 23 48 50 63
parastremmatic dysplasia 44


External Ids:

OMIM48 168400
MESH via Orphanet37 C537172
ICD10 via Orphanet27 Q87.1
SNOMED-CT via Orphanet60 254095002
UMLS via Orphanet64 C1868616

Related Diseases for Parastremmatic Dwarfism

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

168400

Clinical features from OMIM:

168400

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Parastremmatic Dwarfism:

id Genetic test Affiliating Genes
1 Parastremmatic Dwarfism21 23 TRPV4

Anatomical Context for Parastremmatic Dwarfism

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34MalaCards
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MalaCards organs/tissues related to Parastremmatic Dwarfism:

34
Bone

Animal Models for Parastremmatic Dwarfism or affiliated genes

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Publications for Parastremmatic Dwarfism

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53PubMed
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Parastremmatic Dwarfism:

65
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg594HisVAR_062333

Clinvar genetic disease variations for Parastremmatic Dwarfism:

1
id Gene Name 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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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet