MCID: SPN391
MIFTS: 25

Spondyloepiphyseal Dysplasia, Maroteaux Type

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

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Maroteaux Type

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Maroteaux Type:

Name: Spondyloepiphyseal Dysplasia, Maroteaux Type 57 53 59 73
Spondyloepiphyseal Dysplasia Maroteaux Type 53 75 29 6 40
Pseudo-Morquio Syndrome Type 2 53 59 75
Sed, Maroteaux Type 57 53 13
Pseudo-Morquio Syndrome, Type 2 57
Brachyolmia - Maroteaux Type 29
Brachyolmia Maroteaux Type 53
Brachyolmia Type 2 53
Sed Maroteaux Type 75
Sedm 75

Characteristics:

Orphanet epidemiological data:

59
spondyloepiphyseal dysplasia, maroteaux type
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spondyloepiphyseal dysplasia, maroteaux type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 184095
Orphanet 59 ORPHA263482
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 74 C3159322
MedGen 42 C3159322
MeSH 44 D010009
UMLS 73 C3159322

Summaries for Spondyloepiphyseal Dysplasia, Maroteaux Type

NIH Rare Diseases : 53 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 abnormality of the eye and platyspondyly

UniProtKB/Swiss-Prot : 75 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 11.5
2 brachyolmia 11.3
3 brachyolmia type 3 11.2
4 spondyloepiphyseal dysplasia with congenital joint dislocations 10.1
5 morquio syndrome 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Skel:
spondyloepiphyseal dysplasia
platyspondyly

Eyes:
no corneal clouding

Radiology:
champagne-glass configuration of pelvic inlet

Neuro:
normal intelligence

Limbs:
short and stubby hands and feet
genu valgum

Lab:
no mucopolysacchariduria


Clinical features from OMIM:

184095

Human phenotypes related to Spondyloepiphyseal Dysplasia, Maroteaux Type:

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

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 29 TRPV4
2 Brachyolmia - Maroteaux Type 29

Anatomical Context for Spondyloepiphyseal Dysplasia, Maroteaux Type

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

41
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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