Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

Name: Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type ⁵⁷ ⁷² ⁶

Semdist ⁵⁷ ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

Miscellaneous:
upper limbs are relatively spared

HPO:

³¹

spondyloepimetaphyseal dysplasia, isidor-toutain type:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618728

MeSH ⁴⁴ D010009

MedGen ⁴¹ C5231478 CN263114

SNOMED-CT via HPO ⁶⁸ 111266001 237836003 237837007 more

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Summaries for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

OMIM® : ⁵⁷ The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019). (618728) (Updated 20-May-2021)

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type, is also known as semdist. An important gene associated with Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type is RPL13 (Ribosomal Protein L13). Affiliated tissues include bone, and related phenotypes are scoliosis and platyspondyly

UniProtKB/Swiss-Prot : ⁷² Spondyloepimetaphyseal dysplasia, Isidor-Toutain type: An autosomal dominant bone disease characterized by early postnatal growth deficiency, severe short stature, genu varum, platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs.

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Related Diseases for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

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Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

³¹ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	scoliosis ³¹	very rare (1%)	HP:0002650
2	platyspondyly ³¹	very rare (1%)	HP:0000926
3	genu varum ³¹	very rare (1%)	HP:0002970
4	coxa vara ³¹	very rare (1%)	HP:0002812
5	severe short stature ³¹	very rare (1%)	HP:0003510
6	short long bone ³¹	very rare (1%)	HP:0003026
7	postnatal growth retardation ³¹		HP:0008897
8	enlarged metaphyses ³¹		HP:0003051
9	irregular femoral epiphysis ³¹		HP:0006361
10	upper-limb metaphyseal irregularity ³¹		HP:0003850
11	lower-limb metaphyseal irregularity ³¹		HP:0030291

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Skeletal Spine:
platyspondyly
lumbar hyperlordosis
irregular vertebral bodies
foreshortened vertebral bodies
central indentation of upper and lower endplates

Skeletal Pelvis:
coxa vara
hip flexion contractures

Skeletal:
bone age delay

Skeletal Limbs:
genu varum
bowed femora
shortened long bones
irregular metaphyses (upper and lower limbs)
enlarged metaphyses (lower limbs)
more

Growth Height:
postnatal growth deficiency
short stature, severe, disproportionate

Clinical features from OMIM®:

618728 (Updated 20-May-2021)

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Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

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Genetic Tests for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

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Anatomical Context for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

⁴⁰

Bone

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Publications for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Articles related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

#	Title	Authors	PMID	Year
1	RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. ⁶ ⁵⁷	Le Caignec C...Isidor B	31630789	2019
2	A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. ⁶ ⁵⁷	Isidor B...Toutain A	23956136	2013
3	16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature. ⁶¹	Bucerzan S...Grigorescu-Sido P	32760686	2020

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Genes for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Genes related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RPL13	Ribosomal Protein L13	Protein Coding	1218.56	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² GeneCards inferred via : Disorders Variants (show sections)	23956136 31630789

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Variations for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RPL13	NM_000977.3(RPL13):c.477+1G>T	SNV	Pathogenic	689800	rs1597675888	GRCh37: 16:89628800-89628800 GRCh38: 16:89562392-89562392
2	RPL13	NM_000977.3(RPL13):c.477+2T>C	SNV	Pathogenic	689801	rs1597675890	GRCh37: 16:89628801-89628801 GRCh38: 16:89562393-89562393
3	RPL13	NM_000977.3(RPL13):c.477+1G>A	SNV	Pathogenic	689802	rs1597675888	GRCh37: 16:89628800-89628800 GRCh38: 16:89562392-89562392
4	RPL13	NM_000977.3(RPL13):c.548G>C (p.Arg183Pro)	SNV	Pathogenic	804147	rs1597676540	GRCh37: 16:89629362-89629362 GRCh38: 16:89562954-89562954
5	RPL13	NM_033251.2(RPL13):c.533C>A (p.Ala178Asp)	SNV	Pathogenic	813853		GRCh37: 16:89629347-89629347 GRCh38: 16:89562939-89562939
6	RPL13	NM_033251.2(RPL13):c.553G>C (p.Ala185Pro)	SNV	Pathogenic	813854		GRCh37: 16:89629367-89629367 GRCh38: 16:89562959-89562959
7	RPL13	NM_000977.4(RPL13):c.548G>A (p.Arg183His)	SNV	Uncertain significance	1030926		GRCh37: 16:89629362-89629362 GRCh38: 16:89562954-89562954

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	RPL13	p.Arg183Pro	VAR_083551

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Expression for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type.

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Pathways for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

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GO Terms for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

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⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type (SEMDIST)

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Related Diseases for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

Publications for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Articles related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

Genes for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Genes related to Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type (1 elite genes):

Variations for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type:

Expression for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

Pathways for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type

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