MCID: SPN137
MIFTS: 36

Spondyloepiphyseal Dysplasia Maroteaux Type malady

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

Summaries for Spondyloepiphyseal Dysplasia Maroteaux Type

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Spondyloepiphyseal dysplasia (sed) maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). in addition to these physical characteristics, individuals with sed maroteaux type have some common radiographic findings, including platyspondyly (flattened vertebral bodies in the spine), abnormalities of the pelvis and severe brachydactyly (short fingers and toes). intelligence is generally normal and there is no clouding of the cornea, which distinguishes sed maroteaux type from other forms of spondyloepiphyseal dysplasia. sed maroteaux type is caused by mutations in the trpv4 gene and is inherited any an autosomal dominant fashion. last updated: 7/8/2013

MalaCards: Spondyloepiphyseal Dysplasia Maroteaux Type, also known as brachyolmia type 2, is related to arthropathy and brachyolmia type 3, and has symptoms including hyperextensible joints/articular hyperlaxity, thin/hypoplastic/hyperconvex fingernails and clinodactyly of fifth finger. An important gene associated with Spondyloepiphyseal Dysplasia Maroteaux Type is TRPV4 (transient receptor potential cation channel, subfamily V, member 4). The compounds alanine and nitric oxide have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are respiratory system and hearing/vestibular/ear.

Description from OMIM:48 184095,613678

Aliases & Classifications for Spondyloepiphyseal Dysplasia Maroteaux Type

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44NIH Rare Diseases, 21GeneTests, 23GTR, 50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT 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
spondyloepiphyseal dysplasia, maroteaux type:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
brachyolmia type 2:
Inheritance: Autosomal recessive


Aliases & Descriptions:

spondyloepiphyseal dysplasia maroteaux type 44 21 23
brachyolmia type 2 44 21 50
brachyolmia, maroteaux type 50 48
sed, maroteaux type 44 48
spondyloepiphyseal dysplasia, maroteaux type 50
pseudo-morquio syndrome type 2 50
brachyolmia - maroteaux type 63
brachyolmia maroteaux type 44


External Ids:

ICD10 via Orphanet27 Q77.7, Q76.3
SNOMED-CT via Orphanet60 389165004

Related Diseases for Spondyloepiphyseal Dysplasia Maroteaux Type

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18GeneCards, 19GeneDecks
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Diseases related to Spondyloepiphyseal Dysplasia Maroteaux Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1arthropathy10.0COL2A1
2brachyolmia type 310.0TRPV4
3parastremmatic dwarfism10.0TRPV4
4metatropic dysplasia10.0TRPV4
5muscular atrophy10.0TRPV4

Graphical network of diseases related to Spondyloepiphyseal Dysplasia Maroteaux Type:



Diseases related to spondyloepiphyseal dysplasia maroteaux type

Symptoms for Spondyloepiphyseal Dysplasia Maroteaux Type

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

184095

Clinical features from OMIM:

184095,613678

Symptoms:

50 (show all 10)
  • hyperextensible joints/articular hyperlaxity
  • thin/hypoplastic/hyperconvex fingernails
  • clinodactyly of fifth finger
  • pectus excavatum
  • abnormally placed nipples
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • platyspondyly
  • abnormal vertebral size/shape
  • short rib cage/thorax

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Maroteaux Type

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Spondyloepiphyseal Dysplasia Maroteaux Type

Search CenterWatch for Spondyloepiphyseal Dysplasia Maroteaux Type

Genetic Tests for Spondyloepiphyseal Dysplasia Maroteaux Type

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21GeneTests, 23GTR
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Genetic tests related to Spondyloepiphyseal Dysplasia Maroteaux Type:

id Genetic test Affiliating Genes
1 Brachyolmia Type 221 TRPV4
2 Spondyloepiphyseal Dysplasia, Maroteaux Type21 TRPV4
3 Spondyloepiphyseal Dysplasia Maroteaux Type23

Anatomical Context for Spondyloepiphyseal Dysplasia Maroteaux Type

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34MalaCards
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MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia Maroteaux Type:

34
Bone

Animal Models for Spondyloepiphyseal Dysplasia Maroteaux Type or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia Maroteaux Type:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.3TRPV4, COL2A1
2MP:00053779.2TRPV4, COL2A1
3MP:00053679.0TRPV4, COL2A1

Publications for Spondyloepiphyseal Dysplasia Maroteaux Type

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53PubMed
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Articles related to Spondyloepiphyseal Dysplasia Maroteaux Type:

idTitleAuthorsYear
1
Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects. (12884428)
2003

Variations for Spondyloepiphyseal Dysplasia Maroteaux Type

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Spondyloepiphyseal Dysplasia Maroteaux Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys)single nucleotide variantPathogenicrs267607149GRCh37Chr 12, 110222190: 110222190
2TRPV4TRPV4, 17-BP DEL, NT2396deletionPathogenic
3TRPV4NM_021625.4(TRPV4): c.547G> A (p.Glu183Lys)single nucleotide variantPathogenicrs387906324GRCh37Chr 12, 110246113: 110246113
4TRPV4NM_021625.4(TRPV4): c.1805A> G (p.Tyr602Cys)single nucleotide variantPathogenicrs267607150GRCh37Chr 12, 110230476: 110230476
5TRPV4NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu)single nucleotide variantPathogenicrs121912637GRCh37Chr 12, 110222183: 110222183

Expression for genes affiliated with Spondyloepiphyseal Dysplasia Maroteaux Type

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spondyloepiphyseal Dysplasia Maroteaux Type

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia Maroteaux Type.

Pathways for genes affiliated with Spondyloepiphyseal Dysplasia Maroteaux Type

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Compounds for genes affiliated with Spondyloepiphyseal Dysplasia Maroteaux Type

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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Spondyloepiphyseal Dysplasia Maroteaux Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alanine469.3TRPV4, COL2A1
2nitric oxide46 25 1211.0TRPV4, COL2A1

GO Terms for genes affiliated with Spondyloepiphyseal Dysplasia Maroteaux Type

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Products for genes affiliated with Spondyloepiphyseal Dysplasia Maroteaux Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spondyloepiphyseal Dysplasia Maroteaux Type

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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