SEDM
MCID: SPN391
MIFTS: 42

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 57 20 58 36 70
Spondyloepiphyseal Dysplasia Maroteaux Type 12 20 72 29 6 15 39
Pseudo-Morquio Syndrome Type 2 12 20 58 72
Sed, Maroteaux Type 57 12 20 13
Brachyolmia Type 2 12 20 44
Spondyloepiphyseal Dysplasia of Maroteaux 12
Pseudo-Morquio Syndrome, Type 2 57
Brachyolmia Maroteaux Type 20
Sed Maroteaux Type 72
Sedm 72

Characteristics:

Orphanet epidemiological data:

58
spondyloepiphyseal dysplasia, maroteaux type
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
spondyloepiphyseal dysplasia, maroteaux type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111553
OMIM® 57 184095
KEGG 36 H02186
SNOMED-CT 67 719204007
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 71 C3159322
Orphanet 58 ORPHA263482
MedGen 41 C3159322
UMLS 70 C3159322

Summaries for Spondyloepiphyseal Dysplasia, Maroteaux Type

GARD : 20 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 hereditary motor and sensory neuropathy, type iic and metatropic dysplasia. An important gene associated with Spondyloepiphyseal Dysplasia, Maroteaux Type is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Affiliated tissues include eye, bone and heart, and related phenotypes are genu valgum and abnormality of the eye

Disease Ontology : 12 An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has material basis in heterozygous mutation in TRPV4 on chromosome 12q24.11.

KEGG : 36 Spondylo-epiphyseal dysplasia (SED), Maroteaux type, also known as pseudo-Morquio syndrome type 2, is an autosomal dominant chondrodysplasia characterized by short stature with marked shortening of the trunk, and brachydactyly. Facial deformities, ocular changes, and neurodevelopmental abnormalities are absent. It is caused by TRPV4 mutations.

UniProtKB/Swiss-Prot : 72 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.

More information 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:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy, type iic 30.4 TRPV4 PACSIN3
2 metatropic dysplasia 29.9 TRPV6 TRPV4 PACSIN3 MCOLN1
3 brachyolmia 29.7 TRPV6 TRPV4 TRPC1 PACSIN3
4 parastremmatic dwarfism 29.4 TRPV4 TRPA1 PKD1L3 PACSIN3 MCOLN1
5 spondylometaphyseal dysplasia, kozlowski type 28.8 TRPV6 TRPV4 SCN9A PACSIN3 MCOLN1 KCNJ18
6 brachyolmia type 2 11.4
7 brachyolmia type 3 11.3
8 dwarfism 10.2 TRPV4 DYM
9 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
10 spondyloperipheral dysplasia 10.2
11 brachydactyly 10.2
12 osteochondrodysplasia 10.2
13 metaphyseal dysplasia 10.1
14 morquio syndrome 10.1
15 autosomal dominant trpv4 disorders 10.1
16 facial dermatosis 10.1 TRPV4 TRPA1
17 motor peripheral neuropathy 10.0 TRPV4 PACSIN3
18 trigeminal nerve disease 10.0 TRPA1 SCN9A
19 trigeminal neuralgia 9.9 TRPA1 SCN9A
20 autonomic nervous system disease 9.9 TRPA1 SCN9A
21 erythromelalgia 9.9 TRPA1 SCN9A
22 mutilating palmoplantar keratoderma with periorificial keratotic plaques 9.9 TRPV6 TRPV4 TRPA1
23 somatoform disorder 9.9 TRPA1 SCN9A
24 pain agnosia 9.9 TRPA1 SCN9A
25 agnosia 9.9 TRPA1 SCN9A
26 bone development disease 9.9 TRPV4 DYM
27 paroxysmal extreme pain disorder 9.8 TRPV4 TRPA1 SCN9A
28 paine syndrome 9.8 TRPV4 TRPA1 SCN9A
29 progressive familial heart block 9.8 TRPV4 TRPC1
30 polycystic kidney disease 1 with or without polycystic liver disease 9.8 TRPV4 TRPC1 PKD1L3
31 hyperkalemic periodic paralysis 9.8 SCN9A KCNJ18
32 migraine with or without aura 1 9.8 TRPV4 TRPA1 SCN9A
33 paramyotonia congenita of von eulenburg 9.7 SCN9A KCNJ18
34 peripheral nervous system disease 9.7 TRPV4 TRPA1 SCN9A
35 mucolipidosis iv 9.7 TRPV6 TRPV4 TRPC1 MCOLN1
36 familial episodic pain syndrome 9.6 TRPV4 TRPA1 SCN9A MCOLN1
37 scapuloperoneal spinal muscular atrophy 9.4 TRPV6 TRPV4 TRPA1 SCN9A PACSIN3

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:

31
# Description HPO Frequency HPO Source Accession
1 genu valgum 31 HP:0002857
2 abnormality of the eye 31 HP:0000478
3 platyspondyly 31 HP:0000926
4 spondyloepiphyseal dysplasia 31 HP:0002655

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
kyphosis
platyspondyly
irregular vertebral endplates
rectangular vertebral bodies

Growth Height:
disproportionate short stature
normal-low normal birth length
progressive short stature
short-trunk dwarfism

Skeletal Hands:
short metacarpals
dysplastic carpal bones
severe brachydactyly
delayed carpal ossification (infancy-childhood)
delayed phalangeal ossification (infancy-childhood) short phalanges

Skeletal Pelvis:
shortened iliac greater sciatic notches
small, square iliac wings

Skeletal Limbs:
micromelia
flattened femoral heads
short femoral necks
proximal femoral metaphyseal dysplasia
epiphyseal dysplasia (long bones)
more
Skeletal:
spondyloepiphyseal dysplasia
delayed bone age

Head And Neck Face:
normal facies

Clinical features from OMIM®:

184095 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia, Maroteaux Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 DYM MCOLN1 PKD1L3 SCN9A TRPA1 TRPC1
2 taste/olfaction MP:0005394 8.8 PKD1L3 SCN9A TRPA1

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Maroteaux Type

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

Cochrane evidence based reviews: brachyolmia type 2

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

Anatomical Context for Spondyloepiphyseal Dysplasia, Maroteaux Type

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

40
Eye, Bone, Heart, Kidney, Liver

Publications for Spondyloepiphyseal Dysplasia, Maroteaux Type

Articles related to Spondyloepiphyseal Dysplasia, Maroteaux Type:

# Title Authors PMID Year
1
Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects. 6 57 61
12884428 2003
2
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. 6 57
20503319 2010
3
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. 6 57
14755468 2004
4
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 6
20577006 2010
5
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. 6
20425821 2010
6
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 6
19232556 2009
7
Spondyloepiphyseal dysplasia of Maroteaux. 57
2229114 1990
8
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype. 61
33774370 2021
9
Autosomal Dominant TRPV4 Disorders 61
24830047 2014
10
TRPV4-associated skeletal dysplasias. 61
22791502 2012

Variations for Spondyloepiphyseal Dysplasia, Maroteaux Type

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia, Maroteaux Type:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPV4 TRPV4, 17-BP DEL, NT2396 Deletion Pathogenic 18436 GRCh37:
GRCh38:
2 TRPV4 NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) SNV Pathogenic 4998 rs121912637 GRCh37: 12:110222183-110222183
GRCh38: 12:109784378-109784378
3 TRPV4 NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys) SNV Pathogenic 18435 rs267607149 GRCh37: 12:110222190-110222190
GRCh38: 12:109784385-109784385
4 TRPV4 NM_021625.4(TRPV4):c.547G>A (p.Glu183Lys) SNV Pathogenic 18437 rs387906324 GRCh37: 12:110246113-110246113
GRCh38: 12:109808308-109808308
5 TRPV4 NM_021625.4(TRPV4):c.1805A>G (p.Tyr602Cys) SNV Pathogenic 30468 rs267607150 GRCh37: 12:110230476-110230476
GRCh38: 12:109792671-109792671
6 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His) SNV Pathogenic 5000 rs267607144 GRCh37: 12:110238470-110238470
GRCh38: 12:109800665-109800665
7 TRPV4 NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) SNV Uncertain significance 448709 rs375851168 GRCh37: 12:110222154-110222154
GRCh38: 12:109784349-109784349
8 TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) SNV Uncertain significance 409288 rs779715512 GRCh37: 12:110226437-110226437
GRCh38: 12:109788632-109788632
9 TRPV4 NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) SNV Uncertain significance 521109 rs201132615 GRCh37: 12:110232249-110232249
GRCh38: 12:109794444-109794444
10 TRPV4 NM_021625.4(TRPV4):c.569C>T (p.Thr190Met) SNV Uncertain significance 424209 rs1031096826 GRCh37: 12:110240939-110240939
GRCh38: 12:109803134-109803134
11 TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) SNV Uncertain significance 575960 rs770149544 GRCh37: 12:110252418-110252418
GRCh38: 12:109814613-109814613

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

Cellular components related to Spondyloepiphyseal Dysplasia, Maroteaux Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.97 TRPV6 TRPV4 TRPC1 TRPA1 SCN9A PKD1L3
2 membrane GO:0016020 9.96 TRPV6 TRPV4 TRPC1 TRPA1 SCN9A PKD1L3
3 plasma membrane GO:0005886 9.61 TRPV6 TRPV4 TRPC1 TRPA1 SCN9A PKD1L3
4 receptor complex GO:0043235 9.5 TRPC1 PKD1L3 MCOLN1
5 cation channel complex GO:0034703 9.16 TRPC1 PKD1L3
6 integral component of plasma membrane GO:0005887 9.1 TRPV6 TRPV4 TRPC1 TRPA1 SCN9A MCOLN1

Biological processes related to Spondyloepiphyseal Dysplasia, Maroteaux Type according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.76 TRPV6 TRPV4 TRPC1 TRPA1 SCN9A PKD1L3
2 transmembrane transport GO:0055085 9.72 TRPV6 TRPV4 TRPC1 TRPA1 SCN9A
3 ion transmembrane transport GO:0034220 9.65 TRPV6 TRPV4 TRPA1 SCN9A MCOLN1
4 cation transmembrane transport GO:0098655 9.51 SCN9A MCOLN1
5 cation transport GO:0006812 9.49 PKD1L3 MCOLN1
6 response to calcium ion GO:0051592 9.48 TRPV6 TRPC1
7 protein homotetramerization GO:0051289 9.46 TRPA1 MCOLN1
8 sensory perception of pain GO:0019233 9.43 TRPA1 SCN9A
9 calcium ion transport GO:0006816 9.43 TRPV6 TRPV4 TRPC1 TRPA1 PKD1L3 MCOLN1
10 release of sequestered calcium ion into cytosol GO:0051209 9.4 TRPA1 MCOLN1
11 calcium ion import across plasma membrane GO:0098703 9.37 TRPV6 TRPV4
12 calcium ion transmembrane transport GO:0070588 9.1 TRPV6 TRPV4 TRPC1 TRPA1 PKD1L3 MCOLN1

Molecular functions related to Spondyloepiphyseal Dysplasia, Maroteaux Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.55 TRPV6 TRPV4 TRPC1 TRPA1 SCN9A
2 lipid binding GO:0008289 9.43 TRPV4 PACSIN3 MCOLN1
3 calcium channel activity GO:0005262 9.35 TRPV6 TRPV4 TRPC1 TRPA1 PKD1L3
4 cation channel activity GO:0005261 9.02 TRPV4 TRPC1 SCN9A PKD1L3 MCOLN1

Sources for Spondyloepiphyseal Dysplasia, Maroteaux Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....