SEDM
MCID: SPN391
MIFTS: 25

Spondyloepiphyseal Dysplasia, Maroteaux Type (SEDM)

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

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Maroteaux Type

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Maroteaux Type:

Name: Spondyloepiphyseal Dysplasia, Maroteaux Type 58 54 60 38 74
Spondyloepiphyseal Dysplasia Maroteaux Type 54 76 30 6 41
Pseudo-Morquio Syndrome Type 2 54 60 76
Sed, Maroteaux Type 58 54 13
Pseudo-Morquio Syndrome, Type 2 58
Brachyolmia - Maroteaux Type 30
Brachyolmia Maroteaux Type 54
Brachyolmia Type 2 54
Sed Maroteaux Type 76
Sedm 76

Characteristics:

Orphanet epidemiological data:

60
spondyloepiphyseal dysplasia, maroteaux type
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
spondyloepiphyseal dysplasia, maroteaux type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 184095
KEGG 38 H02186
MeSH 45 D010009
ICD10 via Orphanet 35 Q77.7
UMLS via Orphanet 75 C3159322
Orphanet 60 ORPHA263482
MedGen 43 C3159322
UMLS 74 C3159322

Summaries for Spondyloepiphyseal Dysplasia, Maroteaux Type

NIH Rare Diseases : 54 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.

MalaCards based summary : Spondyloepiphyseal Dysplasia, Maroteaux Type, also known as spondyloepiphyseal dysplasia maroteaux type, is related to brachyolmia type 2 and brachyolmia. An important gene associated with Spondyloepiphyseal Dysplasia, Maroteaux Type is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone and eye, and related phenotypes are genu valgum and abnormality of the eye

UniProtKB/Swiss-Prot : 76 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 Spondyloepiphyseal Dysplasia, Maroteaux Type

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

# Related Disease Score Top Affiliating Genes
1 brachyolmia type 2 11.7
2 brachyolmia 11.5
3 brachyolmia type 3 11.4
4 spondyloepiphyseal dysplasia with congenital joint dislocations 10.3
5 morquio syndrome 10.2

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



Diseases related to Spondyloepiphyseal Dysplasia, Maroteaux Type

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Maroteaux Type

Human phenotypes related to Spondyloepiphyseal Dysplasia, Maroteaux Type:

33
# Description HPO Frequency HPO Source Accession
1 genu valgum 33 HP:0002857
2 abnormality of the eye 33 HP:0000478
3 platyspondyly 33 HP:0000926
4 spondyloepiphyseal dysplasia 33 HP:0002655

Symptoms via clinical synopsis from OMIM:

58
Limbs:
genu valgum
short and stubby hands and feet

Neuro:
normal intelligence

Radiology:
champagne-glass configuration of pelvic inlet

Skel:
platyspondyly
spondyloepiphyseal dysplasia

Eyes:
no corneal clouding

Lab:
no mucopolysacchariduria

Clinical features from OMIM:

184095

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Maroteaux Type

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia, Maroteaux Type

Genetic Tests for Spondyloepiphyseal Dysplasia, Maroteaux Type

Genetic tests related to Spondyloepiphyseal Dysplasia, Maroteaux Type:

# Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia Maroteaux Type 30 TRPV4
2 Brachyolmia - Maroteaux Type 30

Anatomical Context for Spondyloepiphyseal Dysplasia, Maroteaux Type

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia, Maroteaux Type:

42
Bone, Eye

Publications for Spondyloepiphyseal Dysplasia, Maroteaux Type

Articles related to Spondyloepiphyseal Dysplasia, Maroteaux Type:

# Title Authors Year
1
Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects. ( 12884428 )
2003

Variations for Spondyloepiphyseal Dysplasia, Maroteaux Type

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia, Maroteaux Type:

6
# 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.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 GRCh38 Chromosome 12, 109784378: 109784378
3 TRPV4 NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys) single nucleotide variant Pathogenic rs267607149 GRCh37 Chromosome 12, 110222190: 110222190
4 TRPV4 NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys) single nucleotide variant Pathogenic rs267607149 GRCh38 Chromosome 12, 109784385: 109784385
5 TRPV4 TRPV4, 17-BP DEL, NT2396 deletion Pathogenic
6 TRPV4 NM_021625.4(TRPV4): c.547G> A (p.Glu183Lys) single nucleotide variant Pathogenic rs387906324 GRCh37 Chromosome 12, 110246113: 110246113
7 TRPV4 NM_021625.4(TRPV4): c.547G> A (p.Glu183Lys) single nucleotide variant Pathogenic rs387906324 GRCh38 Chromosome 12, 109808308: 109808308
8 TRPV4 NM_021625.4(TRPV4): c.1805A> G (p.Tyr602Cys) single nucleotide variant Pathogenic rs267607150 GRCh37 Chromosome 12, 110230476: 110230476
9 TRPV4 NM_021625.4(TRPV4): c.1805A> G (p.Tyr602Cys) single nucleotide variant Pathogenic rs267607150 GRCh38 Chromosome 12, 109792671: 109792671

Expression for Spondyloepiphyseal Dysplasia, Maroteaux Type

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia, Maroteaux Type.

Pathways for Spondyloepiphyseal Dysplasia, Maroteaux Type

GO Terms for Spondyloepiphyseal Dysplasia, Maroteaux Type

Sources for Spondyloepiphyseal Dysplasia, Maroteaux Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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