MCID: SPN137
MIFTS: 33

Spondyloepiphyseal Dysplasia Maroteaux Type malady

Bone diseases, Fetal diseases categories

Summaries for Spondyloepiphyseal Dysplasia Maroteaux Type

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 brachydactyly and dwarfism, 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 compound nitric oxide have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotype hearing/vestibular/ear.

Description from OMIM:46 184095,613678

Aliases & Classifications for Spondyloepiphyseal Dysplasia Maroteaux Type

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42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT 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
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 42 20 22
brachyolmia type 2 42 20 48
brachyolmia, maroteaux type 48 46
sed, maroteaux type 42 46
spondyloepiphyseal dysplasia, maroteaux type 48
pseudo-morquio syndrome type 2 48
brachyolmia - maroteaux type 60
brachyolmia maroteaux type 42


External Ids:

ICD10 via Orphanet26 Q77.7, Q76.3
SNOMED-CT via Orphanet57 389165004

Related Diseases for Spondyloepiphyseal Dysplasia Maroteaux Type

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17GeneCards, 18GeneDecks
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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
1brachydactyly10.0COL2A1
2dwarfism10.0COL2A1
3arthropathy10.0COL2A1
4osteoarthritis10.0COL2A1
5muscular atrophy10.0TRPV4
6short stature10.0COL2A1

Graphical network of diseases related to Spondyloepiphyseal Dysplasia Maroteaux Type:



Diseases related to spondyloepiphyseal dysplasia maroteaux type

Clinical Features for Spondyloepiphyseal Dysplasia Maroteaux Type

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46OMIM, 48Orphanet
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Clinical features from OMIM:

184095,613678

Clinical synopsis from OMIM:

184095

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Spondyloepiphyseal Dysplasia Maroteaux Type

Drug clinical trials:

Search ClinicalTrials for Spondyloepiphyseal Dysplasia Maroteaux Type

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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20GeneTests, 22GTR
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Genetic tests related to Spondyloepiphyseal Dysplasia Maroteaux Type:

id Genetic test Affiliating Genes
1 Brachyolmia Type 220 TRPV4
2 Spondyloepiphyseal Dysplasia, Maroteaux Type20 TRPV4
3 Spondyloepiphyseal Dysplasia Maroteaux Type22

Anatomical Context for Spondyloepiphyseal Dysplasia Maroteaux Type

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32MalaCards
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MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia Maroteaux Type:

32
Bone

Animal Models for Spondyloepiphyseal Dysplasia Maroteaux Type or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia Maroteaux Type:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3TRPV4, COL2A1

Publications for Spondyloepiphyseal Dysplasia Maroteaux Type

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Genetic Variations for Spondyloepiphyseal Dysplasia Maroteaux Type

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Expression for genes affiliated with Spondyloepiphyseal Dysplasia Maroteaux Type

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1BioGPS, 15Gene 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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Sources:
44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Spondyloepiphyseal Dysplasia Maroteaux Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nitric oxide44 11 2411.3TRPV4, 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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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