MCID: SDM002
MIFTS: 30

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 49 11 45
Spondyloepiphyseal Dysplasia, Maroteaux Type 45 22 51 24 65
Pseudo-Morquio Syndrome Type 2 45 51 67
Brachyolmia, Maroteaux Type 22 51 24
Brachyolmia Type 2 45 22 51
Spondyloepiphyseal Dysplasia Maroteaux Type 45 67
 
Maroteaux Type Pseudo-Morquio Syndrome, Type 2 22
Brachyolmia Maroteaux Type 45
Sed Maroteaux Type 67
Sedm 67
Sed 22

Characteristics:

Orphanet epidemiological data:

51
spondyloepiphyseal dysplasia, maroteaux type:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
brachyolmia, maroteaux type:
Inheritance: Autosomal recessive

HPO:

61
sed, maroteaux type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 184095
Orphanet51 263482, 93302
ICD10 via Orphanet28 Q77.7, Q76.3
MedGen34 C3159322
MeSH36 D010009
UMLS65 C3159322

Summaries for Sed, Maroteaux Type

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NIH Rare Diseases:45 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 short rib cage/thorax, abnormal vertebral size/shape and platyspondyly. An important gene associated with Sed, Maroteaux Type is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone, eye and liver.

UniProtKB/Swiss-Prot:67 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:49 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

Symptoms:

 51 (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 Sed, Maroteaux Type:

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

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 Brachyolmia Type 222 TRPV4
2 Spondyloepiphyseal Dysplasia, Maroteaux Type22 TRPV4

Anatomical Context for Sed, Maroteaux Type

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MalaCards organs/tissues related to Sed, Maroteaux Type:

33
Bone, Eye, Liver, Breast

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet