Ritscher-Schinzel Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Ritscher-Schinzel Syndrome 3

MalaCards integrated aliases for Ritscher-Schinzel Syndrome 3:

Name: Ritscher-Schinzel Syndrome 3 ⁵⁷ ⁶

Rtsc3 ⁵⁷

Characteristics:

HPO:

³¹

ritscher-schinzel syndrome 3:
Onset and clinical course death in infancy congenital onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

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Summaries for Ritscher-Schinzel Syndrome 3

OMIM® : ⁵⁷ Ritscher-Schinzel syndrome-3 (RTSC3) is characterized by craniocerebellocardiac anomalies and severe postnatal growth restriction, as well as complicated skeletal malformations, including vertebral body hypoossification, sternal aplasia, and chondrodysplasia punctata. Other features include developmental delay, ocular anomalies, periventricular nodular heterotopia, and proteinuria (Kato et al., 2020). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210). (619135) (Updated 05-Mar-2021)

MalaCards based summary : Ritscher-Schinzel Syndrome 3, is also known as rtsc3. An important gene associated with Ritscher-Schinzel Syndrome 3 is VPS35L (VPS35 Endosomal Protein Sorting Factor Like). Related phenotypes are intellectual disability and hypertelorism

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Related Diseases for Ritscher-Schinzel Syndrome 3

Diseases in the Ritscher-Schinzel Syndrome family:

Ritscher-Schinzel Syndrome 1	Ritscher-Schinzel Syndrome 2
Ritscher-Schinzel Syndrome 3

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Symptoms & Phenotypes for Ritscher-Schinzel Syndrome 3

Human phenotypes related to Ritscher-Schinzel Syndrome 3:

³¹ (show all 28)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³¹	very rare (1%)	HP:0001249
2	hypertelorism ³¹	very rare (1%)	HP:0000316
3	anteverted nares ³¹	very rare (1%)	HP:0000463
4	prominent forehead ³¹	very rare (1%)	HP:0011220
5	epiphyseal stippling ³¹	very rare (1%)	HP:0010655
6	cryptorchidism ³¹	very rare (1%)	HP:0000028
7	postnatal growth retardation ³¹	very rare (1%)	HP:0008897
8	micrognathia ³¹	very rare (1%)	HP:0000347
9	downslanted palpebral fissures ³¹	very rare (1%)	HP:0000494
10	chorioretinal coloboma ³¹	very rare (1%)	HP:0000567
11	microphthalmia ³¹	very rare (1%)	HP:0000568
12	highly arched eyebrow ³¹	very rare (1%)	HP:0002553
13	thin upper lip vermilion ³¹	very rare (1%)	HP:0000219
14	severe global developmental delay ³¹	very rare (1%)	HP:0011344
15	wide anterior fontanel ³¹	very rare (1%)	HP:0000260
16	hypoplasia of the ulna ³¹	very rare (1%)	HP:0003022
17	atrioventricular canal defect ³¹	very rare (1%)	HP:0006695
18	short 1st metacarpal ³¹	very rare (1%)	HP:0010034
19	focal impaired awareness seizure ³¹	very rare (1%)	HP:0002384
20	cerebellar vermis hypoplasia ³¹	very rare (1%)	HP:0001320
21	relative macrocephaly ³¹	very rare (1%)	HP:0004482
22	ulnar bowing ³¹	very rare (1%)	HP:0003031
23	poorly ossified vertebrae ³¹	very rare (1%)	HP:0100856
24	short first metatarsal ³¹	very rare (1%)	HP:0010105
25	shortening of all distal phalanges of the fingers ³¹	very rare (1%)	HP:0006118
26	delayed ability to sit ³¹	very rare (1%)	HP:0025336
27	periventricular nodular heterotopia ³¹	very rare (1%)	HP:0032388
28	delayed ability to roll over ³¹	very rare (1%)	HP:0032989

Clinical features from OMIM®:

619135 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Ritscher-Schinzel Syndrome 3

Search Clinical Trials , NIH Clinical Center for Ritscher-Schinzel Syndrome 3

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Genetic Tests for Ritscher-Schinzel Syndrome 3

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Anatomical Context for Ritscher-Schinzel Syndrome 3

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Publications for Ritscher-Schinzel Syndrome 3

Articles related to Ritscher-Schinzel Syndrome 3:

#	Title	Authors	PMID	Year
1	Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. ⁶ ⁵⁷	Kato K...Saitoh S	31712251	2020

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Genes for Ritscher-Schinzel Syndrome 3

Genes related to Ritscher-Schinzel Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	VPS35L	VPS35 Endosomal Protein Sorting Factor Like	Protein Coding	907.84	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	31712251

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Variations for Ritscher-Schinzel Syndrome 3

ClinVar genetic disease variations for Ritscher-Schinzel Syndrome 3:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	VPS35L	NM_020314.7(VPS35L):c.2488G>A (p.Ala830Thr)	SNV	Pathogenic	989441		16:19693673-19693673	16:19682351-19682351
2	VPS35L	NM_020314.7(VPS35L):c.830dup (p.Cys277fs)	Duplication	Pathogenic	989442		16:19619544-19619545	16:19608222-19608223

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Expression for Ritscher-Schinzel Syndrome 3

Search GEO for disease gene expression data for Ritscher-Schinzel Syndrome 3.

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Pathways for Ritscher-Schinzel Syndrome 3

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GO Terms for Ritscher-Schinzel Syndrome 3

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Ritscher-Schinzel Syndrome 3 (RTSC3)

Aliases & Classifications for Ritscher-Schinzel Syndrome 3

MalaCards integrated aliases for Ritscher-Schinzel Syndrome 3:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Ritscher-Schinzel Syndrome 3

Related Diseases for Ritscher-Schinzel Syndrome 3

Diseases in the Ritscher-Schinzel Syndrome family:

Symptoms & Phenotypes for Ritscher-Schinzel Syndrome 3

Human phenotypes related to Ritscher-Schinzel Syndrome 3:

Clinical features from OMIM®:

Drugs & Therapeutics for Ritscher-Schinzel Syndrome 3

Genetic Tests for Ritscher-Schinzel Syndrome 3

Anatomical Context for Ritscher-Schinzel Syndrome 3

Publications for Ritscher-Schinzel Syndrome 3

Articles related to Ritscher-Schinzel Syndrome 3:

Genes for Ritscher-Schinzel Syndrome 3

Genes related to Ritscher-Schinzel Syndrome 3 (1 elite genes):

Variations for Ritscher-Schinzel Syndrome 3

ClinVar genetic disease variations for Ritscher-Schinzel Syndrome 3:

Expression for Ritscher-Schinzel Syndrome 3

Pathways for Ritscher-Schinzel Syndrome 3

GO Terms for Ritscher-Schinzel Syndrome 3

Sources for Ritscher-Schinzel Syndrome 3