MCID: SDM002
MIFTS: 29

Sed, Maroteaux Type malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Sed, Maroteaux Type

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Aliases & Descriptions for Sed, Maroteaux Type:

Name: Sed, Maroteaux Type 50 46 12
Spondyloepiphyseal Dysplasia, Maroteaux Type 50 46 23 52 66
Spondyloepiphyseal Dysplasia Maroteaux Type 46 68 25
Pseudo-Morquio Syndrome Type 2 46 52 68
Maroteaux Type Pseudo-Morquio Syndrome, Type 2 23
 
Brachyolmia Maroteaux Type 46
Brachyolmia Type 2 46
Sed Maroteaux Type 68
Sedm 68
Sed 23

Characteristics:

Orphanet epidemiological data:

52
spondyloepiphyseal dysplasia, maroteaux type:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
sed, maroteaux type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 184095
Orphanet52 ORPHA263482
ICD10 via Orphanet29 Q77.7
MedGen35 C3159322
MeSH37 D010009

Summaries for Sed, Maroteaux Type

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NIH Rare Diseases:46 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: Sed, Maroteaux Type, also known as spondyloepiphyseal dysplasia, maroteaux type, is related to sed congenita and spondyloepiphyseal dysplasia with congenital joint dislocations, and has symptoms including abnormality of the eye, platyspondyly and spondyloepiphyseal dysplasia. An important gene associated with Sed, Maroteaux Type is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone and eye.

UniProtKB/Swiss-Prot:68 Spondyloepiphyseal dysplasia Maroteaux type: A clinically variable spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system. Clinical features include short stature, brachydactyly, platyspondyly, short and stubby hands and feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia. Intelligence is normal.

Description from OMIM:50 184095

Related Diseases for Sed, Maroteaux Type

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Graphical network of the top 20 diseases related to Sed, Maroteaux Type:



Diseases related to sed, maroteaux type

Symptoms for Sed, Maroteaux Type

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Symptoms by clinical synopsis from OMIM:

184095

Clinical features from OMIM:

184095

HPO human phenotypes related to Sed, Maroteaux Type:

id Description Frequency HPO Source Accession
1 abnormality of the eye HP:0000478
2 platyspondyly HP:0000926
3 spondyloepiphyseal dysplasia HP:0002655
4 genu valgum HP:0002857

Drugs & Therapeutics for Sed, Maroteaux Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Sed, Maroteaux Type

Genetic Tests for Sed, Maroteaux Type

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Genetic tests related to Sed, Maroteaux Type:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia Maroteaux Type25
2 Spondyloepiphyseal Dysplasia, Maroteaux Type23 TRPV4

Anatomical Context for Sed, Maroteaux Type

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MalaCards organs/tissues related to Sed, Maroteaux Type:

34
Bone, Eye

Animal Models for Sed, Maroteaux Type or affiliated genes

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Publications for Sed, Maroteaux Type

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Variations for Sed, Maroteaux Type

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Clinvar genetic disease variations for Sed, Maroteaux Type:

5
id Gene Variation 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 Sed, Maroteaux Type

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Search GEO for disease gene expression data for Sed, Maroteaux Type.

Pathways for genes affiliated with Sed, Maroteaux Type

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GO Terms for genes affiliated with Sed, Maroteaux Type

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Sources for Sed, Maroteaux Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet