MCID: SPN422
MIFTS: 10

Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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 6
Semddr 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 617974

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)

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.

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 Hands:
delayed carpal bone age

Skeletal Spine:
hypoplasia of anterior vertebral bodies
slight platyspondyly

Skeletal Limbs:
waddling gait
joint pain
restricted mobility
genua vara
absent ossification nucleus of proximal femoral epiphysis
more

Clinical features from OMIM:

617974

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

3 CDC
7 CNVD
9 Cosmic
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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54 NINDS
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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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