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

Aliases & Descriptions for Sed, Maroteaux Type:

Name: Sed, Maroteaux Type 54 50 13
Spondyloepiphyseal Dysplasia, Maroteaux Type 54 50 24 56 69
Spondyloepiphyseal Dysplasia Maroteaux Type 50 66 29
Pseudo-Morquio Syndrome Type 2 50 56 66
Maroteaux Type Pseudo-Morquio Syndrome, Type 2 24
Brachyolmia Maroteaux Type 50
Brachyolmia Type 2 50
Sed Maroteaux Type 66
Sedm 66
Sed 24

Characteristics:

Orphanet epidemiological data:

56
spondyloepiphyseal dysplasia, maroteaux type
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
sed, maroteaux type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 184095
Orphanet 56 ORPHA263482
ICD10 via Orphanet 34 Q77.7
MedGen 40 C3159322
MeSH 42 D010009

Summaries for Sed, Maroteaux Type

NIH Rare Diseases : 50 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 genu valgum, abnormality of the eye 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 and eye.

UniProtKB/Swiss-Prot : 66 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: 184095

Related Diseases for Sed, Maroteaux Type

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



Diseases related to Sed, Maroteaux Type

Symptoms & Phenotypes for Sed, Maroteaux Type

Symptoms by clinical synopsis from OMIM:

184095

Clinical features from OMIM:

184095

Human phenotypes related to Sed, Maroteaux Type:

32
id Description HPO Frequency HPO Source Accession
1 genu valgum 32 HP:0002857
2 abnormality of the eye 32 HP:0000478
3 platyspondyly 32 HP:0000926
4 spondyloepiphyseal dysplasia 32 HP:0002655

Drugs & Therapeutics for Sed, Maroteaux Type

Search Clinical Trials , NIH Clinical Center for Sed, Maroteaux Type

Genetic Tests for Sed, Maroteaux Type

Genetic tests related to Sed, Maroteaux Type:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia Maroteaux Type 29
2 Spondyloepiphyseal Dysplasia, Maroteaux Type 24 TRPV4

Anatomical Context for Sed, Maroteaux Type

MalaCards organs/tissues related to Sed, Maroteaux Type:

39
Bone, Eye

Publications for Sed, Maroteaux Type

Variations for Sed, Maroteaux Type

ClinVar genetic disease variations for Sed, Maroteaux Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 GRCh37 Chromosome 12, 110222183: 110222183
2 TRPV4 NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys) single nucleotide variant Pathogenic rs267607149 GRCh37 Chromosome 12, 110222190: 110222190
3 TRPV4 TRPV4, 17-BP DEL, NT2396 deletion Pathogenic
4 TRPV4 NM_021625.4(TRPV4): c.547G> A (p.Glu183Lys) single nucleotide variant Pathogenic rs387906324 GRCh37 Chromosome 12, 110246113: 110246113
5 TRPV4 NM_021625.4(TRPV4): c.1805A> G (p.Tyr602Cys) single nucleotide variant Pathogenic rs267607150 GRCh37 Chromosome 12, 110230476: 110230476

Expression for Sed, Maroteaux Type

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

Pathways for Sed, Maroteaux Type

GO Terms for Sed, Maroteaux Type

Sources for Sed, Maroteaux Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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