SEMDDR
MCID: SPN422
MIFTS: 18

Spondyloepimetaphyseal Dysplasia, Di Rocco Type (SEMDDR)

Categories: Genetic diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

Name: Spondyloepimetaphyseal Dysplasia, Di Rocco Type 57 72 29 6
Semddr 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 1 family (last curated may 2018)


HPO:

31
spondyloepimetaphyseal dysplasia, di rocco type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617974
MeSH 44 D010009

Summaries for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

UniProtKB/Swiss-Prot : 72 Spondyloepimetaphyseal dysplasia, Di Rocco type: A skeletal disorder characterized by short stature, joint pain, genu vara and spondyloepimetaphyseal dysplasia involving the hips, knees, ankles, wrists and hands. Patients also exhibit variable degrees of metaphysis and spine involvement. SEMDDR transmission pattern is consistent with autosomal dominant inheritance.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Di Rocco Type, is also known as semddr. An important gene associated with Spondyloepimetaphyseal Dysplasia, Di Rocco Type is UFSP2 (UFM1 Specific Peptidase 2). Affiliated tissues include bone, and related phenotypes are short stature and waddling gait

OMIM® : 57 Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement (Di Rocco et al., 2018). (617974) (Updated 20-May-2021)

Related Diseases for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 waddling gait 31 HP:0002515
3 arthralgia 31 HP:0002829
4 platyspondyly 31 HP:0000926
5 genu varum 31 HP:0002970
6 metaphyseal dysplasia 31 HP:0100255
7 delayed ossification of carpal bones 31 HP:0001216
8 irregular acetabular roof 31 HP:0008833

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Skeletal Pelvis:
irregular acetabular roof

Skeletal Spine:
hypoplasia of anterior vertebral bodies
slight platyspondyly

Skeletal Limbs:
waddling gait
irregular acetabular roof
joint pain
genua vara
restricted mobility
more
Skeletal Hands:
delayed carpal bone age

Clinical features from OMIM®:

617974 (Updated 20-May-2021)

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia, Di Rocco Type 29 UFSP2

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

40
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Articles related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

# Title Authors PMID Year
1
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 57 6
28892125 2018
2
Structure of ubiquitin-fold modifier 1-specific protease UfSP2. 6
21228277 2011

Variations for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UFSP2 NM_018359.4(UFSP2):c.1277A>C (p.Asp426Ala) SNV Pathogenic 437868 rs1554022725 GRCh37: 4:186324694-186324694
GRCh38: 4:185403540-185403540
2 UFSP2 NM_018359.5(UFSP2):c.1283A>G (p.His428Arg) SNV Likely pathogenic 916581 GRCh37: 4:186324688-186324688
GRCh38: 4:185403534-185403534

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

72
# Symbol AA change Variation ID SNP ID
1 UFSP2 p.Asp426Ala VAR_079708 rs155402272

Expression for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Di Rocco Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Sources for Spondyloepimetaphyseal Dysplasia, Di Rocco 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
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