SEMDDR
MCID: SPN422
MIFTS: 14

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 75 6
Semddr 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 617974
MedGen 42 CN244923
MeSH 44 D010009

Summaries for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

UniProtKB/Swiss-Prot : 75 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 arthralgia and platyspondyly

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)

Related Diseases for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 arthralgia 32 HP:0002829
2 platyspondyly 32 HP:0000926
3 waddling gait 32 HP:0002515
4 genu varum 32 HP:0002970
5 irregular acetabular roof 32 HP:0008833
6 metaphyseal dysplasia 32 HP:0100255

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

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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

41
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Variations for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UFSP2 NM_018359.3(UFSP2): c.1277A> C (p.Asp426Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 185403540: 185403540
2 UFSP2 NM_018359.3(UFSP2): c.1277A> C (p.Asp426Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 186324694: 186324694

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

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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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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