Spondyloepimetaphyseal Dysplasia, Di Rocco Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 617974

MeSH ⁴³ D010009

MedGen ⁴⁰ C4693799 CN244923

SNOMED-CT via HPO ⁶⁹ 123983008 237836003 271706000 more

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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.

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Related Diseases for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

³⁰ (show all 11)

#	Description	HPO 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)

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Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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

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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

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Anatomical Context for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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

MalaCards : Bone

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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	Zhang G...Wang Y	32755715	2020
2	Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. ⁵⁷ ⁵	Di Rocco M...Ceccherini I	28892125	2018
3	Structure of ubiquitin-fold modifier 1-specific protease UfSP2. ⁵	Ha BH...Kim EE	21228277	2011

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Genes for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Genes related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	UFSP2	UFM1 Specific Peptidase 2	Protein Coding	1333.41	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	28892125 21228277 32755715

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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

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Expression for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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

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Pathways for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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GO Terms for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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Sources for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SEMDDR MCID: SPN422 MIFTS: 20	Spondyloepimetaphyseal Dysplasia, Di Rocco Type (SEMDDR) Categories: Genetic diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Spondyloepimetaphyseal Dysplasia, Di Rocco Type (SEMDDR)

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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

Publications for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Articles related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type:

Genes for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Genes related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type (1 elite genes):

Variations for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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

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

Expression for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

Pathways for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Di Rocco Type

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