SEDM
MCID: SDM002
MIFTS: 26

Sed, Maroteaux Type (SEDM) 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 52 48 12
Spondyloepiphyseal Dysplasia, Maroteaux Type 52 48 24 54 68
Spondyloepiphyseal Dysplasia Maroteaux Type 48 70 27
Pseudo-Morquio Syndrome Type 2 48 54 70
Maroteaux Type Pseudo-Morquio Syndrome, Type 2 24
 
Brachyolmia Maroteaux Type 48
Brachyolmia Type 2 48
Sed Maroteaux Type 70
Sedm 70
Sed 24

Characteristics:

Orphanet epidemiological data:

54
spondyloepiphyseal dysplasia, maroteaux type:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
sed, maroteaux type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 184095
Orphanet54 ORPHA263482
ICD10 via Orphanet31 Q77.7
MedGen37 C3159322
MeSH39 D010009

Summaries for Sed, Maroteaux Type

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NIH Rare Diseases:48 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:70 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:52 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 & Phenotypes for Sed, Maroteaux Type

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Symptoms by clinical synopsis from OMIM:

184095

Clinical features from OMIM:

184095

Human phenotypes related to Sed, Maroteaux Type:

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of the eye64 HP:0000478
2 platyspondyly64 HP:0000926
3 spondyloepiphyseal dysplasia64 HP:0002655
4 genu valgum64 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 Type27
2 Spondyloepiphyseal Dysplasia, Maroteaux Type24 TRPV4

Anatomical Context for Sed, Maroteaux Type

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MalaCards organs/tissues related to Sed, Maroteaux Type:

36
Bone, Eye

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)SNVPathogenicrs267607149GRCh37Chr 12, 110222190: 110222190
2TRPV4TRPV4, 17-BP DEL, NT2396deletionPathogenic
3TRPV4NM_ 021625.4(TRPV4): c.547G> A (p.Glu183Lys)SNVPathogenicrs387906324GRCh37Chr 12, 110246113: 110246113
4TRPV4NM_ 021625.4(TRPV4): c.1805A> G (p.Tyr602Cys)SNVPathogenicrs267607150GRCh37Chr 12, 110230476: 110230476
5TRPV4NM_ 021625.4(TRPV4): c.2396C> T (p.Pro799Leu)SNVPathogenicrs121912637GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet