Sed, Maroteaux Type malady

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

Aliases & Classifications for Sed, Maroteaux Type

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46OMIM, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 61UMLS, 20GeneTests, 22GTR, 26ICD10 via Orphanet
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Aliases & Descriptions for Sed, Maroteaux Type:

Name: Sed, Maroteaux Type 46 9 42
Spondyloepiphyseal Dysplasia, Maroteaux Type 46 42 48 61
Spondyloepiphyseal Dysplasia Maroteaux Type 42 20 22
Brachyolmia Type 2 42 20 48
Pseudo-Morquio Syndrome Type 2 42 48
Brachyolmia, Maroteaux Type 48
Brachyolmia Maroteaux Type 42


Characteristics (Orphanet epidemiological data):

spondyloepiphyseal dysplasia, maroteaux type:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
brachyolmia type 2:
Inheritance: Autosomal recessive

External Ids:

OMIM46 184095
Orphanet48 263482, 93302
ICD10 via Orphanet26 Q77.7, Q76.3

Summaries for Sed, 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: Sed, Maroteaux Type, also known as spondyloepiphyseal dysplasia, maroteaux type, is related to brachyolmia type 3 and muscular atrophy, and has symptoms including platyspondyly, short stature and short thorax. An important gene associated with Sed, Maroteaux Type is TRPV4 (transient receptor potential cation channel, subfamily V, member 4). Affiliated tissues include eye and bone.

Description from OMIM:46 184095

Related Diseases for Sed, Maroteaux Type

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Diseases related to Sed, Maroteaux Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brachyolmia type 310.1TRPV4
2muscular atrophy10.1TRPV4
3parastremmatic dwarfism10.1TRPV4
4metatropic dysplasia10.0TRPV4

Symptoms for Sed, Maroteaux Type

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 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 Sed, Maroteaux Type:

(show all 13)
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

Drugs & Therapeutics for Sed, Maroteaux Type

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Drug clinical trials:

Search ClinicalTrials for Sed, Maroteaux Type

Search 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 220 TRPV4
2 Spondyloepiphyseal Dysplasia, Maroteaux Type20 TRPV4
3 Spondyloepiphyseal Dysplasia Maroteaux Type22

Anatomical Context for Sed, Maroteaux Type

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MalaCards organs/tissues related to Sed, Maroteaux Type:

Eye, Bone

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:

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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Compounds 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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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet