RTSC3
MCID: RTS004
MIFTS: 17

Ritscher-Schinzel Syndrome 3 (RTSC3)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

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:



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

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

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)

Drugs & Therapeutics for Ritscher-Schinzel Syndrome 3

Search Clinical Trials , NIH Clinical Center 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:

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

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

Expression for Ritscher-Schinzel Syndrome 3

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

Pathways for Ritscher-Schinzel Syndrome 3

GO Terms for Ritscher-Schinzel Syndrome 3

Sources for Ritscher-Schinzel Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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