SEMDDR
MCID: SPN422
MIFTS: 20

Spondyloepimetaphyseal Dysplasia, Di Rocco Type (SEMDDR)

Categories: Genetic diseases
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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

Name: Spondyloepimetaphyseal Dysplasia, Di Rocco Type 57 73 28 5 38
Semddr 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 617974
MeSH 43 D010009

Summaries for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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 08-Dec-2022)

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 delayed skeletal maturation and short stature

UniProtKB/Swiss-Prot: 73 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.

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:

30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 30 Very rare (1%) HP:0002750
2 short stature 30 Very rare (1%) HP:0004322
3 reduced bone mineral density 30 Very rare (1%) HP:0004349
4 waddling gait 30 Very rare (1%) HP:0002515
5 metaphyseal dysplasia 30 Very rare (1%) HP:0100255
6 bowing of the legs 30 Very rare (1%) HP:0002979
7 irregular acetabular roof 30 Very rare (1%) HP:0008833
8 arthralgia 30 HP:0002829
9 platyspondyly 30 HP:0000926
10 genu varum 30 HP:0002970
11 delayed ossification of carpal bones 30 HP:0001216

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Height:
short stature

Skeletal Pelvis:
irregular acetabular roof
shallow acetabula

Chest Ribs Sternum Clavicles And Scapulae:
widening of anterior segment of ribs

Skeletal Spine:
hypoplasia of anterior vertebral bodies
slight platyspondyly

Skeletal Limbs:
waddling gait
joint pain
genua vara
bowing of lower extremities
restricted mobility
more
Skeletal Hands:
delayed carpal bone age

Skeletal:
reduced bone mineral density (in 1 patient)

Skeletal Feet:
irregular shape of talus and calcaneus (in 1 patient)
increased density of talus anc calcaneus (in 1 patient)

Clinical features from OMIM®:

617974 (Updated 08-Dec-2022)

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 28 UFSP2

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Organs/tissues related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

MalaCards : Bone

Publications for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Articles related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

# Title Authors PMID Year
1
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report. 57 5
32755715 2020
2
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 57 5
28892125 2018
3
Structure of ubiquitin-fold modifier 1-specific protease UfSP2. 5
21228277 2011

Variations for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UFSP2 NM_018359.5(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.905G>C (p.Cys302Ser) SNV Pathogenic
1098423 GRCh37: 4:186329516-186329516
GRCh38: 4:185408362-185408362
3 UFSP2 NM_018359.5(UFSP2):c.1283A>G (p.His428Arg) SNV Likely Pathogenic
916581 rs2095515802 GRCh37: 4:186324688-186324688
GRCh38: 4:185403534-185403534
4 UFSP2, C4orf47 NM_018359.5(UFSP2):c.-33C>T SNV Benign
1684236 GRCh37: 4:186347055-186347055
GRCh38: 4:185425901-185425901
5 UFSP2, C4orf47 NM_018359.5(UFSP2):c.333+11T>C SNV Benign
1684235 GRCh37: 4:186339584-186339584
GRCh38: 4:185418430-185418430

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

73
# Symbol AA change Variation ID SNP ID
1 UFSP2 p.Asp426Ala VAR_079708 rs1554022725

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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