PCH6
MCID: PNT036
MIFTS: 46

Pontocerebellar Hypoplasia, Type 6 (PCH6)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 6

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 6:

Name: Pontocerebellar Hypoplasia, Type 6 57 13
Pontocerebellar Hypoplasia Type 6 12 20 58 29 6 44 15 71
Pch6 57 58 73
Fatal Infantile Encephalopathy with Mitochondrial Respiratory Chain Defects 58 73
Encephalopathy, Fatal Infantile, with Mitochondrial Respiratory Chain Defects 57
Encephalopathy Fatal Infantile with Mitochondrial Respiratory Chain Defects 20
Hypoplasia, Pontocerebellar, Type 6 39
Pontocerebellar Hypoplasia 6 73

Characteristics:

Orphanet epidemiological data:

58
pontocerebellar hypoplasia type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
death in childhood may occur
onset at birth or in first days or life


HPO:

31
pontocerebellar hypoplasia, type 6:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive congenital onset death in childhood


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060275
OMIM® 57 611523
OMIM Phenotypic Series 57 PS607596
SNOMED-CT 67 718606005
MESH via Orphanet 45 C548074
ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C1969084
Orphanet 58 ORPHA166073
MedGen 41 C1969084
UMLS 71 C1969084

Summaries for Pontocerebellar Hypoplasia, Type 6

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 166073DefinitionPontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.EpidemiologyPCH6 is reported in less than 10 cases to dateClinical descriptionPCH6 is characterized clinically at birth by generalized hypotonia, lethargy and dysphagia. The clinical profile is characterized from infancy by a profound developmental delay, progressive microencephaly, hypotonia or spasticity treatment-resistant epilepsy.EtiologyPCH6 is caused by missense and splice site mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene located to 6q16.1.Diagnostic methodsMRI demonstrates neocortical and more severe cerebral cortical atrophy (more severe than in other types of PCH), pontocerebellar hypoplasia with pons and cerebellum are equally affected. RARS2 mutation positive PCH6 patients can be screened by analysis of increased lactate in blood and cerebrospinal fluid. Biochemical analysis in muscle may demonstrate reduced activity of mitochondrial complexes I, III, and IV and normal activity of mitochondrial complex II.PrognosisPrognosis is poor, exact life expectancy is unknown but in most cases does not exceed infancy.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pontocerebellar Hypoplasia, Type 6, also known as pontocerebellar hypoplasia type 6, is related to 3-methylglutaconic aciduria, type iii and pontocerebellar hypoplasia, and has symptoms including seizures and apnea. An important gene associated with Pontocerebellar Hypoplasia, Type 6 is RARS2 (Arginyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Gene Expression and tRNA processing. Affiliated tissues include cerebellum, brain and pons, and related phenotypes are hyperreflexia and failure to thrive

Disease Ontology : 12 A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has material basis in autosomal recessive inheritance of mutation in the RARS2 gene.

OMIM® : 57 Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay (Edvardson et al., 2007). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). (611523) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Pontocerebellar hypoplasia 6: A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition.

Related Diseases for Pontocerebellar Hypoplasia, Type 6

Diseases in the Pontocerebellar Hypoplasia family:

Pontocerebellar Hypoplasia, Type 4 Pontocerebellar Hypoplasia, Type 2a
Pontocerebellar Hypoplasia, Type 1a Pontocerebellar Hypoplasia, Type 3
Pontocerebellar Hypoplasia, Type 5 Pontocerebellar Hypoplasia, Type 6
Pontocerebellar Hypoplasia, Type 2b Pontocerebellar Hypoplasia, Type 2c
Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia, Type 1b
Pontocerebellar Hypoplasia, Type 8 Pontocerebellar Hypoplasia, Type 7
Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 9
Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia, Type 2f Pontocerebellar Hypoplasia, Type 11
Pontocerebellar Hypoplasia, Type 1d Pontocerebellar Hypoplasia, Type 12
Pontocerebellar Hypoplasia, Type 13 Pontocerebellar Hypoplasia Type 1

Diseases related to Pontocerebellar Hypoplasia, Type 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 30.1 TSEN54 RARS2 DARS2
2 pontocerebellar hypoplasia 29.8 TSEN54 TSEN34 TSEN2 SLC35A1 RARS2 DARS2
3 peho syndrome 29.3 ZNHIT3 TSEN54 TSEN34 TSEN2 RARS2
4 microcephaly 29.0 TSEN54 TSEN34 TSEN2 RARS2 KARS1 AARS1
5 encephalopathy 10.3
6 cerebellar hypoplasia 10.2
7 cerebral atrophy 10.2
8 pontocerebellar hypoplasia type 1 10.1 TSEN54 RARS2
9 anterior horn cell disease 10.1 TSEN54 RARS2
10 mitochondrial dna depletion syndrome 5 10.1 RARS2 DARS2
11 atrial standstill 1 10.1
12 hydrops fetalis, nonimmune 10.1
13 alacrima, achalasia, and mental retardation syndrome 10.1
14 early infantile epileptic encephalopathy 10.1
15 lactic acidosis 10.1
16 dystonia 10.1
17 hypotonia 10.1
18 combined oxidative phosphorylation deficiency 20 10.0 RARS2 KARS1
19 mental retardation and microcephaly with pontine and cerebellar hypoplasia 9.9 TSEN54 TSEN34
20 tsen54 pontocerebellar hypoplasia 9.9 TSEN54 TSEN34 TSEN2
21 pontocerebellar hypoplasia, type 2a 9.9 TSEN54 TSEN34 TSEN2
22 46 xx gonadal dysgenesis 9.9 LARS2 DARS2
23 pontocerebellar hypoplasia, type 2e 9.9 TSEN54 TSEN34 TSEN2
24 hemoglobin h disease 9.9 TSEN54 TSEN34 TSEN2
25 walker-warburg syndrome 9.8 TSEN54 TSEN34 SLC35A1
26 charcot-marie-tooth disease, recessive intermediate b 9.8 KARS1 AARS1
27 infantile liver failure syndrome 9.8 RARS2 MARS2 AARS1
28 deafness, autosomal recessive 89 9.8 RARS2 LARS2 KARS1
29 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 RARS2 LARS2 DARS2
30 charcot-marie-tooth disease, axonal, type 2n 9.8 KARS1 AARS1
31 charcot-marie-tooth disease intermediate type 9.8 KARS1 AARS1
32 mitochondrial dna depletion syndrome 4a 9.7 RARS2 DARS2 AARS1
33 autosomal dominant distal hereditary motor neuronopathy 9.7 KARS1 AARS1
34 charcot-marie-tooth disease, dominant intermediate c 9.6 KARS1 DARS2 AARS1
35 charcot-marie-tooth disease, axonal, type 2d 9.6 KARS1 DARS2 AARS1
36 combined oxidative phosphorylation deficiency 12 9.6 RARS2 MARS2 DARS2 AARS1
37 developmental and epileptic encephalopathy 29 9.5 RARS2 MARS2 KARS1 AARS1
38 leukodystrophy 9.4 LARS2 KARS1 DARS2
39 robinow syndrome, autosomal recessive 1 9.3 RARS2 LARS2 KARS1 AARS1
40 neuronopathy, distal hereditary motor, type va 9.3 LARS2 KARS1 DARS2 AARS1
41 perrault syndrome 9.0 RARS2 MARS2 LARS2 KARS1 DARS2 AARS1

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 6:



Diseases related to Pontocerebellar Hypoplasia, Type 6

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 6

Human phenotypes related to Pontocerebellar Hypoplasia, Type 6:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 failure to thrive 31 HP:0001508
3 global developmental delay 31 HP:0001263
4 narrow palate 31 HP:0000189
5 absent speech 31 HP:0001344
6 deeply set eye 31 HP:0000490
7 increased serum lactate 31 HP:0002151
8 apnea 31 HP:0002104
9 prominent nasal bridge 31 HP:0000426
10 cerebellar hypoplasia 31 HP:0001321
11 poor head control 31 HP:0002421
12 increased csf lactate 31 HP:0002490
13 cerebellar atrophy 31 HP:0001272
14 poor suck 31 HP:0002033
15 cerebral atrophy 31 HP:0002059
16 generalized hypotonia 31 HP:0001290
17 lower limb spasticity 31 HP:0002061
18 atrophy/degeneration affecting the brainstem 31 HP:0007366
19 narrow forehead 31 HP:0000341
20 progressive microcephaly 31 HP:0000253
21 upper limb spasticity 31 HP:0006986
22 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
poor head control
cerebellar atrophy
cerebral atrophy
more
Head And Neck Mouth:
narrow palate

Head And Neck Nose:
prominent nasal bridge

Muscle Soft Tissue:
hypotonia
edematous hands and feet (1 patient)
reduced activity of mitochondrial respiratory chains (1 family)

Head And Neck Face:
bitemporal narrowing
dysmorphic features described in 1 patient

Head And Neck Head:
microcephaly, progressive

Growth Other:
failure to thrive

Laboratory Abnormalities:
increased serum lactate
increased csf lactate

Abdomen Gastrointestinal:
feeding difficulties
poor sucking

Head And Neck Eyes:
deep-set eyes
dysconjugate eye movements

Respiratory:
apneic episodes

Clinical features from OMIM®:

611523 (Updated 05-Mar-2021)

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 6:


seizures, apnea

GenomeRNAi Phenotypes related to Pontocerebellar Hypoplasia, Type 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.02 AARS1 LARS2 MARS2 SLC35A1 TSEN2

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 6

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 6

Cochrane evidence based reviews: pontocerebellar hypoplasia type 6

Genetic Tests for Pontocerebellar Hypoplasia, Type 6

Genetic tests related to Pontocerebellar Hypoplasia, Type 6:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 6 29 RARS2

Anatomical Context for Pontocerebellar Hypoplasia, Type 6

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 6:

40
Cerebellum, Brain, Pons, Eye

Publications for Pontocerebellar Hypoplasia, Type 6

Articles related to Pontocerebellar Hypoplasia, Type 6:

(show all 20)
# Title Authors PMID Year
1
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features. 6 57 61
20635367 2010
2
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. 6 57
25809939 2015
3
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. 57 6
17847012 2007
4
[Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review]. 61
33120460 2020
5
A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report. 61
33209735 2020
6
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. 61
31536827 2020
7
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. 61
31665838 2019
8
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy. 61
30921410 2019
9
Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations. 61
30006346 2018
10
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features. 61
29881806 2018
11
Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature. 61
29434700 2018
12
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? 61
27683254 2017
13
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. 61
27769281 2016
14
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. 61
26970947 2016
15
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. 61
26083569 2015
16
Neuropathologic features of pontocerebellar hypoplasia type 6. 61
25289895 2014
17
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations. 61
24047924 2013
18
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. 61
22569581 2013
19
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. 61
22086604 2012
20
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. 61
20952379 2011

Variations for Pontocerebellar Hypoplasia, Type 6

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 6:

6 (show top 50) (show all 81)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RARS2 NM_020320.5(RARS2):c.110+5A>G SNV Pathogenic 891 rs63749985 6:88279230-88279230 6:87569512-87569512
2 RARS2 NM_020320.5(RARS2):c.1024A>G (p.Met342Val) SNV Pathogenic 30911 rs387907048 6:88231193-88231193 6:87521475-87521475
3 RARS2 NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) SNV Pathogenic 30912 rs147391618 6:88299641-88299641 6:87589923-87589923
4 RARS2 RARS2, -2A-G SNV Pathogenic 208208
5 RARS2 NM_020320.5(RARS2):c.1237+1G>A SNV Pathogenic 488586 rs759922477 6:88229300-88229300 6:87519582-87519582
6 RARS2 NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) SNV Pathogenic 215055 rs772887102 6:88258341-88258341 6:87548623-87548623
7 RARS2 NM_020320.5(RARS2):c.1612del (p.Thr538fs) Deletion Pathogenic 522857 rs781417096 6:88224713-88224713 6:87514995-87514995
8 RARS2 NM_020320.5(RARS2):c.472_474del (p.Lys158del) Deletion Pathogenic 215072 rs757743894 6:88255395-88255397 6:87545677-87545679
9 RARS2 NM_020320.5(RARS2):c.-2A>G SNV Pathogenic 802251 rs201150141 6:88299677-88299677 6:87589959-87589959
10 RARS2 NM_020320.5(RARS2):c.1305+1G>A SNV Pathogenic 931994 6:88228541-88228541 6:87518823-87518823
11 RARS2 NM_020320.5(RARS2):c.1A>T (p.Met1Leu) SNV Pathogenic 974848 6:88299675-88299675 6:87589957-87589957
12 RARS2 NM_020320.5(RARS2):c.1A>G (p.Met1Val) SNV Pathogenic 225026 rs774923951 6:88299675-88299675 6:87589957-87589957
13 RARS2 NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) SNV Pathogenic 215061 rs199835443 6:88234306-88234306 6:87524588-87524588
14 RARS2 NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg) SNV Likely pathogenic 802249 rs764875815 6:88228565-88228565 6:87518847-87518847
15 RARS2 NM_020320.5(RARS2):c.449T>C (p.Ile150Thr) SNV Likely pathogenic 802250 rs1582576986 6:88258311-88258311 6:87548593-87548593
16 RARS2 NM_020320.5(RARS2):c.1650+5G>A SNV Likely pathogenic 632595 rs750433723 6:88224670-88224670 6:87514952-87514952
17 RARS2 NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) SNV Likely pathogenic 632596 rs1258569046 6:88239290-88239290 6:87529572-87529572
18 RARS2 NM_020320.5(RARS2):c.370del (p.Gln124fs) Deletion Likely pathogenic 436508 rs1554203400 6:88265151-88265151 6:87555433-87555433
19 RARS2 NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) SNV Likely pathogenic 488585 rs765088174 6:88226566-88226566 6:87516848-87516848
20 RARS2 NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs) Deletion Likely pathogenic 212016 rs756696262 6:88229955-88229956 6:87520237-87520238
21 RARS2 NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) SNV Conflicting interpretations of pathogenicity 215064 rs34647222 6:88231191-88231191 6:87521473-87521473
22 RARS2 NM_020320.5(RARS2):c.78A>C (p.Thr26=) SNV Uncertain significance 195354 rs138360045 6:88279267-88279267 6:87569549-87569549
23 RARS2 NM_020320.5(RARS2):c.888G>A (p.Thr296=) SNV Uncertain significance 289735 rs145189950 6:88234361-88234361 6:87524643-87524643
24 RARS2 NM_020320.5(RARS2):c.818G>T (p.Arg273Leu) SNV Uncertain significance 215059 rs139721632 6:88239320-88239320 6:87529602-87529602
25 RARS2 NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) SNV Uncertain significance 358237 rs143389605 6:88258318-88258318 6:87548600-87548600
26 RARS2 NM_020320.5(RARS2):c.709G>A (p.Ala237Thr) SNV Uncertain significance 990087 6:88240564-88240564 6:87530846-87530846
27 RARS2 NM_020320.5(RARS2):c.637G>A (p.Ala213Thr) SNV Uncertain significance 990088 6:88240636-88240636 6:87530918-87530918
28 RARS2 NM_020320.5(RARS2):c.262G>A (p.Val88Ile) SNV Uncertain significance 990089 6:88272455-88272455 6:87562737-87562737
29 RARS2 NM_020320.5(RARS2):c.110A>G (p.Glu37Gly) SNV Uncertain significance 990090 6:88279235-88279235 6:87569517-87569517
30 RARS2 NM_020320.5(RARS2):c.1675G>A (p.Val559Ile) SNV Uncertain significance 992187 6:88224193-88224193 6:87514475-87514475
31 RARS2 NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) SNV Uncertain significance 358238 rs749061654 6:88272472-88272472 6:87562754-87562754
32 RARS2 NM_020320.5(RARS2):c.1369G>A (p.Gly457Arg) SNV Uncertain significance 976780 6:88228394-88228394 6:87518676-87518676
33 RARS2 NM_020320.5(RARS2):c.29C>T (p.Ala10Val) SNV Uncertain significance 977286 6:88299647-88299647 6:87589929-87589929
34 RARS2 NM_020320.5(RARS2):c.1708C>T (p.Leu570Phe) SNV Uncertain significance 521519 rs144242932 6:88224160-88224160 6:87514442-87514442
35 RARS2 NM_020320.5(RARS2):c.1367G>A (p.Arg456His) SNV Uncertain significance 909638 6:88228396-88228396 6:87518678-87518678
36 RARS2 NM_020320.5(RARS2):c.1306-8C>T SNV Uncertain significance 737185 rs375589432 6:88228465-88228465 6:87518747-87518747
37 RARS2 NM_020320.5(RARS2):c.879-13T>C SNV Uncertain significance 910569 6:88234383-88234383 6:87524665-87524665
38 RARS2 NM_020320.5(RARS2):c.456T>C (p.Asn152=) SNV Uncertain significance 138891 rs141374913 6:88255413-88255413 6:87545695-87545695
39 RARS2 NM_020320.5(RARS2):c.152A>G (p.Glu51Gly) SNV Uncertain significance 215078 rs863224185 6:88273909-88273909 6:87564191-87564191
40 RARS2 NM_020320.5(RARS2):c.1692C>G (p.Ala564=) SNV Uncertain significance 747991 rs760078372 6:88224176-88224176 6:87514458-87514458
41 RARS2 NM_020320.5(RARS2):c.1518C>T (p.Asp506=) SNV Uncertain significance 703587 rs754538094 6:88226592-88226592 6:87516874-87516874
42 RARS2 NM_020320.5(RARS2):c.1512-4T>C SNV Uncertain significance 741672 rs542159390 6:88226602-88226602 6:87516884-87516884
43 RARS2 NM_020320.5(RARS2):c.772-3del Deletion Uncertain significance 215073 rs368859792 6:88239369-88239369 6:87529651-87529651
44 RARS2 NM_020320.5(RARS2):c.735G>A (p.Arg245=) SNV Uncertain significance 731304 rs574006058 6:88240538-88240538 6:87530820-87530820
45 RARS2 NM_020320.5(RARS2):c.818G>C (p.Arg273Pro) SNV Uncertain significance 215058 rs139721632 6:88239320-88239320 6:87529602-87529602
46 RARS2 NM_020320.5(RARS2):c.1511+3A>G SNV Uncertain significance 358231 rs886061821 6:88227884-88227884 6:87518166-87518166
47 RARS2 NM_020320.5(RARS2):c.975-14C>T SNV Uncertain significance 138897 rs199941996 6:88231256-88231256 6:87521538-87521538
48 RARS2 NM_020320.5(RARS2):c.1492A>G (p.Ile498Val) SNV Uncertain significance 358232 rs200632524 6:88227906-88227906 6:87518188-87518188
49 RARS2 NM_020320.5(RARS2):c.26T>C (p.Ile9Thr) SNV Uncertain significance 358240 rs371367255 6:88299650-88299650 6:87589932-87589932
50 RARS2 NM_020320.5(RARS2):c.207A>G (p.Ala69=) SNV Uncertain significance 358239 rs568483789 6:88273854-88273854 6:87564136-87564136

Expression for Pontocerebellar Hypoplasia, Type 6

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 6.

Pathways for Pontocerebellar Hypoplasia, Type 6

GO Terms for Pontocerebellar Hypoplasia, Type 6

Cellular components related to Pontocerebellar Hypoplasia, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.63 RARS2 MARS2 LARS2 KARS1 DARS2 AARS1
2 mitochondrial matrix GO:0005759 9.35 RARS2 MARS2 LARS2 KARS1 DARS2
3 tRNA-intron endonuclease complex GO:0000214 8.8 TSEN54 TSEN34 TSEN2

Biological processes related to Pontocerebellar Hypoplasia, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.73 RARS2 MARS2 LARS2 KARS1 DARS2 AARS1
2 tRNA processing GO:0008033 9.55 TSEN54 TSEN34 TSEN2 KARS1 AARS1
3 tRNA splicing, via endonucleolytic cleavage and ligation GO:0006388 9.5 TSEN54 TSEN34 TSEN2
4 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.48 TSEN34 TSEN2
5 RNA phosphodiester bond hydrolysis GO:0090501 9.46 TSEN34 TSEN2
6 mitochondrial translation GO:0032543 9.43 RARS2 LARS2
7 aminoacyl-tRNA metabolism involved in translational fidelity GO:0106074 9.4 LARS2 AARS1
8 tRNA aminoacylation GO:0043039 9.37 DARS2 AARS1
9 tRNA-type intron splice site recognition and cleavage GO:0000379 9.13 TSEN54 TSEN34 TSEN2
10 tRNA aminoacylation for protein translation GO:0006418 9.1 RARS2 MARS2 LARS2 KARS1 DARS2 AARS1

Molecular functions related to Pontocerebellar Hypoplasia, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.93 RARS2 MARS2 LARS2 KARS1 DARS2 AARS1
2 nucleic acid binding GO:0003676 9.8 TSEN34 TSEN2 KARS1 DARS2 AARS1
3 ATP binding GO:0005524 9.8 RARS2 MARS2 LARS2 KARS1 DARS2 AARS1
4 amino acid binding GO:0016597 9.43 KARS1 AARS1
5 tRNA binding GO:0000049 9.43 KARS1 DARS2 AARS1
6 ligase activity GO:0016874 9.43 RARS2 MARS2 LARS2 KARS1 DARS2 AARS1
7 aminoacyl-tRNA editing activity GO:0002161 9.37 LARS2 AARS1
8 tRNA-intron endonuclease activity GO:0000213 9.16 TSEN34 TSEN2
9 aminoacyl-tRNA ligase activity GO:0004812 9.1 RARS2 MARS2 LARS2 KARS1 DARS2 AARS1

Sources for Pontocerebellar Hypoplasia, Type 6

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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