MCID: SPN137
MIFTS: 37

Spondyloepiphyseal Dysplasia Maroteaux Type malady

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

Summaries for Spondyloepiphyseal Dysplasia Maroteaux Type

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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 based summary: Spondyloepiphyseal Dysplasia Maroteaux Type, also known as brachyolmia type 2, is related to arthropathy and brachyolmia type 3, and has symptoms including platyspondyly, short stature and short thorax. 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.

OMIM:46 The term 'brachyolmia' was coined to designate a bone dysplasia characterized clinically by short trunk dwarfism and... (613678) more...

Description from OMIM:46 184095

Aliases & Classifications for Spondyloepiphyseal Dysplasia Maroteaux Type

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Sources:
42NIH Rare Diseases, 21GeneTests, 23GTR, 48Orphanet, 46OMIM, 61UMLS, 27ICD10 via Orphanet
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Spondyloepiphyseal Dysplasia Maroteaux Type, Aliases & Descriptions:

Name: Spondyloepiphyseal Dysplasia Maroteaux Type 42 21 23
Brachyolmia Type 2 42 21 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 61
Brachyolmia Maroteaux Type 42


Classifications:

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


External Ids:

ICD10 via Orphanet27 Q77.7, Q76.3

Related Diseases for Spondyloepiphyseal Dysplasia Maroteaux Type

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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
1arthropathy10.2COL2A1
2brachyolmia type 310.1TRPV4
3parastremmatic dwarfism10.1TRPV4
4metatropic dysplasia10.1TRPV4
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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Symptoms by clinical synopsis from OMIM:

184095

Clinical features from OMIM:

184095,613678

Symptoms:

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

HPO human phenotypes related to Spondyloepiphyseal Dysplasia Maroteaux Type:

(show all 15)
id Description Frequency HPO Source Accession
1 platyspondyly hallmark (90%) HP:0000926
2 short stature hallmark (90%) HP:0004322
3 short thorax hallmark (90%) HP:0010306
4 pectus excavatum typical (50%) HP:0000767
5 abnormality of the fingernails typical (50%) HP:0001231
6 joint hypermobility typical (50%) HP:0001382
7 clinodactyly of the 5th finger typical (50%) HP:0004209
8 abnormality of the nipple typical (50%) HP:0004404
9 autosomal dominant inheritance HP:0000006
10 abnormality of the eye HP:0000478
11 platyspondyly HP:0000926
12 spondyloepiphyseal dysplasia HP:0002655
13 genu valgum HP:0002857
14 autosomal recessive inheritance HP:0000007
15 short stature HP:0004322

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Maroteaux Type

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Drug clinical trials:

Search ClinicalTrials for Spondyloepiphyseal Dysplasia Maroteaux Type

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia Maroteaux Type

Genetic Tests for Spondyloepiphyseal Dysplasia Maroteaux Type

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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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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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MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia Maroteaux Type:

36
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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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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Clinvar genetic disease variations for Spondyloepiphyseal Dysplasia Maroteaux Type:

7
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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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, 25HMDB, 12DrugBank
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Compounds related to Spondyloepiphyseal Dysplasia Maroteaux Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alanine449.3TRPV4, COL2A1
2nitric oxide44 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
  • Proteins
  • Kits and Assays

Sources for Spondyloepiphyseal Dysplasia Maroteaux Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet