SEMDIST
MCID: SPN439
MIFTS: 20

Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type (SEMDIST)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

Name: Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 57 73 6
Semdist 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
upper limbs are relatively spared


HPO:

31
spondyloepimetaphyseal dysplasia, isidor-toutain type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

OMIM® : 57 The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019). (618728) (Updated 05-Mar-2021)

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type, is also known as semdist. An important gene associated with Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type is RPL13 (Ribosomal Protein L13). Affiliated tissues include bone, and related phenotypes are scoliosis and platyspondyly

UniProtKB/Swiss-Prot : 73 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type: An autosomal dominant bone disease characterized by early postnatal growth deficiency, severe short stature, genu varum, platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs.

Related Diseases for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 platyspondyly 31 very rare (1%) HP:0000926
3 genu varum 31 very rare (1%) HP:0002970
4 coxa vara 31 very rare (1%) HP:0002812
5 severe short stature 31 very rare (1%) HP:0003510
6 short long bone 31 very rare (1%) HP:0003026
7 postnatal growth retardation 31 HP:0008897
8 enlarged metaphyses 31 HP:0003051
9 irregular femoral epiphysis 31 HP:0006361
10 upper-limb metaphyseal irregularity 31 HP:0003850
11 lower-limb metaphyseal irregularity 31 HP:0030291

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
platyspondyly
lumbar hyperlordosis
irregular vertebral bodies
foreshortened vertebral bodies
central indentation of upper and lower endplates

Skeletal Pelvis:
coxa vara
hip flexion contractures

Skeletal:
bone age delay

Skeletal Limbs:
genu varum
bowed femora
shortened long bones
irregular metaphyses (upper and lower limbs)
enlarged metaphyses (lower limbs)
more
Growth Height:
postnatal growth deficiency
short stature, severe, disproportionate

Clinical features from OMIM®:

618728 (Updated 05-Mar-2021)

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

40
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Articles related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

# Title Authors PMID Year
1
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. 57 6
31630789 2019
2
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. 6 57
23956136 2013
3
16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature. 61
32760686 2020

Variations for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPL13 NM_000977.3(RPL13):c.477+1G>T SNV Pathogenic 689800 rs1597675888 16:89628800-89628800 16:89562392-89562392
2 RPL13 NM_000977.3(RPL13):c.477+2T>C SNV Pathogenic 689801 rs1597675890 16:89628801-89628801 16:89562393-89562393
3 RPL13 NM_000977.3(RPL13):c.477+1G>A SNV Pathogenic 689802 rs1597675888 16:89628800-89628800 16:89562392-89562392
4 RPL13 NM_000977.3(RPL13):c.548G>C (p.Arg183Pro) SNV Pathogenic 804147 rs1597676540 16:89629362-89629362 16:89562954-89562954
5 RPL13 NM_033251.2(RPL13):c.533C>A (p.Ala178Asp) SNV Pathogenic 813853 16:89629347-89629347 16:89562939-89562939
6 RPL13 NM_033251.2(RPL13):c.553G>C (p.Ala185Pro) SNV Pathogenic 813854 16:89629367-89629367 16:89562959-89562959

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

73
# Symbol AA change Variation ID SNP ID
1 RPL13 p.Arg183Pro VAR_083551

Expression for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Sources for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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