LO
MCID: PLR023
MIFTS: 44

Polr3-Related Leukodystrophy (LO)

Categories: Endocrine diseases, Eye diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Polr3-Related Leukodystrophy

MalaCards integrated aliases for Polr3-Related Leukodystrophy:

Name: Polr3-Related Leukodystrophy 25 20 29 6
Pol Iii-Related Leukodystrophy 20 43 29 6
4h Syndrome 20 43 58
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome 20 58
Ribonucleic Acid Polymerase Iii-Related Leukodystrophy 20 43
Pol Iii-Related Hypomyelinating Leukodystrophies 20 43
4h Leukodystrophy 25 58
Pol Iii Disorder 20 43
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 43
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 43
Hypomyelinating Leukodystrophy with or Without Oligondontia and/or Hypogonadism 20
Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum 43
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism 43
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination 43
Ataxia, Delayed Dentition, and Hypomyelination 43
Tremor-Ataxia with Central Hypomyelination 43
Leukodystrophy with Oligodontia 43
Polr-Related Leukodystrophy 58
Dentoleukoencephalopathy 43
Odontoleukodystrophy 43
Hcahc 43
Hld7 43
Addh 43
Hld8 43
Tach 43
Lo 43

Characteristics:

Orphanet epidemiological data:

58
hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 G11.1
UMLS via Orphanet 71 C2676243

Summaries for Polr3-Related Leukodystrophy

MedlinePlus Genetics : 43 Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve cells (neurons) covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses.Pol III-related leukodystrophy is a hypomyelinating disease, which means that the nervous system of affected individuals has a reduced ability to form myelin. Hypomyelination underlies most of the neurological problems associated with Pol III-related leukodystrophy. A small number of people with this disorder also have a loss of nerve cells in a part of the brain involved in coordinating movements (cerebellar atrophy) and underdevelopment (hypoplasia) of tissue that connects the left and right halves of the brain (the corpus callosum). These brain abnormalities likely contribute to the neurological problems in affected individuals.People with Pol III-related leukodystrophy usually have intellectual disability ranging from mild to severe, which gradually worsens over time. Some affected individuals have normal intelligence in early childhood but develop mild intellectual disability during the course of the disease.Difficulty coordinating movements (ataxia), which begins in childhood and slowly worsens over time, is a characteristic feature of Pol III-related leukodystrophy. Affected children typically have delayed development of motor skills such as walking. Their gait is unstable, and they usually walk with their feet wide apart for balance. Affected individuals may eventually need to use a walker or wheelchair. Involuntary rhythmic shaking (tremor) of the arms and hands may occur in this disorder. In some cases the tremor occurs mainly during movement (intention tremor); other affected individuals experience the tremor both during movement and at rest.Development of the teeth (dentition) is often abnormal in Pol III-related leukodystrophy, resulting in the absence of some teeth (known as hypodontia or oligodontia). Some affected infants are born with a few teeth (natal teeth), which fall out during the first weeks of life. The primary (deciduous) teeth appear later than usual, beginning at about age 2. In Pol III-related leukodystrophy, the teeth may not appear in the usual sequence, in which front teeth (incisors) appear before back teeth (molars). Instead, molars often appear first, with incisors appearing later or not at all. Permanent teeth are also delayed, and may not appear until adolescence. The teeth may also be unusually shaped.Some individuals with Pol III-related leukodystrophy have excessive salivation and difficulty chewing or swallowing (dysphagia), which can lead to choking. They may also have speech impairment (dysarthria). People with Pol III-related leukodystrophy often have abnormalities in eye movement, such as progressive vertical gaze palsy, which is restricted up-and-down eye movement that worsens over time. Nearsightedness is common in affected individuals, and clouding of the lens of the eyes (cataracts) has also been reported. Deterioration (atrophy) of the nerves that carry information from the eyes to the brain (the optic nerves) and seizures may also occur in this disorder.Hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development, may occur in Pol III-related leukodystrophy. Affected individuals have delayed development of the typical signs of puberty, such as the growth of body hair.People with Pol III-related leukodystrophy may have different combinations of its signs and symptoms. These varied combinations of clinical features were originally described as separate disorders. Affected individuals may be diagnosed with ataxia, delayed dentition, and hypomyelination (ADDH); hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); tremor-ataxia with central hypomyelination (TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Because these disorders were later found to have the same genetic cause, researchers now group them as variations of the single condition Pol III-related leukodystrophy.

MalaCards based summary : Polr3-Related Leukodystrophy, also known as pol iii-related leukodystrophy, is related to leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism and leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism. An important gene associated with Polr3-Related Leukodystrophy is POLR3B (RNA Polymerase III Subunit B), and among its related pathways/superpathways are Cytosolic sensors of pathogen-associated DNA and RNA Polymerase III Transcription Initiation. Affiliated tissues include brain, eye and thyroid, and related phenotypes are ataxia and hypodontia

GeneReviews: NBK99167

Related Diseases for Polr3-Related Leukodystrophy

Diseases related to Polr3-Related Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 32.6 POLR3B POLR3A HCN1
2 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 31.0 POLR3B POLR3A LOC100287944
3 hypogonadotropic hypogonadism 30.5 POLR3B POLR3A
4 hypogonadism 30.5 POLR3B POLR3A
5 leukodystrophy 30.3 POLR3B POLR3A POLR1C
6 hypomyelinating leukoencephalopathy 29.8 POLR3B POLR3A
7 tooth agenesis 29.7 POLR3B POLR3A
8 treacher collins syndrome 1 29.7 POLR3B POLR3A POLR1C
9 gordon holmes syndrome 29.6 POLR3B POLR3A
10 hypomyelinating leukodystrophy 29.0 POLR3B POLR3A POLR1C LOC100287944 HCN1
11 attention deficit-hyperactivity disorder 11.0
12 leukodystrophy, hypomyelinating, 6 10.4
13 tubb4a-related leukodystrophy 10.4
14 ataxia and polyneuropathy, adult-onset 10.3
15 dysphagia 10.3
16 spasticity 10.3
17 tremor 10.3
18 autism spectrum disorder 10.1
19 neurogenic bladder 10.1
20 wiedemann-rautenstrauch syndrome 10.1
21 autosomal recessive disease 10.1
22 myopia 10.1
23 dystonia 10.1
24 growth hormone deficiency 10.1
25 progeroid syndrome 10.1
26 conduct disorder 10.1
27 multiple sclerosis 10.0
28 alacrima, achalasia, and mental retardation syndrome 10.0
29 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
30 amenorrhea 10.0
31 polymicrogyria 10.0
32 spastic ataxia 4 10.0 POLR3B POLR3A
33 spastic ataxia 8 10.0 POLR3B POLR3A
34 boucher-neuhauser syndrome 9.9 POLR3B POLR3A
35 leukodystrophy, hypomyelinating, 10 9.9 POLR3B POLR3A
36 asperger syndrome 9.9
37 dyslexia 9.9
38 learning disability 9.9
39 goiter 9.9
40 dystonia 11, myoclonic 9.9 POLR3B POLR3A
41 cerebral degeneration 9.8 POLR3B POLR3A
42 3-methylglutaconic aciduria, type iii 9.8
43 peripheral nervous system disease 9.8
44 cataract 9.8
45 neuropathy 9.8
46 pathologic nystagmus 9.8
47 hypertonia 9.8
48 hereditary ataxia 9.8 POLR3B POLR3A
49 leukoencephalopathy with vanishing white matter 9.6 POLR3B POLR3A POLR1C

Graphical network of the top 20 diseases related to Polr3-Related Leukodystrophy:



Diseases related to Polr3-Related Leukodystrophy

Symptoms & Phenotypes for Polr3-Related Leukodystrophy

Human phenotypes related to Polr3-Related Leukodystrophy:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001251
2 hypodontia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000668
3 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000815
4 cns hypomyelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0003429
5 seizures 58 Occasional (29-5%)
6 abnormality of eye movement 58 Frequent (79-30%)
7 dysarthria 58 Very frequent (99-80%)
8 tremor 58 Frequent (79-30%)
9 dysphagia 58 Frequent (79-30%)
10 cataract 58 Very rare (<4-1%)
11 abnormality of the dentition 58 Very frequent (99-80%)
12 optic atrophy 58 Very rare (<4-1%)
13 short stature 58 Frequent (79-30%)
14 delayed puberty 58 Frequent (79-30%)
15 myopia 58 Very frequent (99-80%)
16 hypogonadotrophic hypogonadism 58 Very frequent (99-80%)
17 delayed eruption of teeth 58 Occasional (29-5%)
18 dysmetria 58 Occasional (29-5%)
19 abnormality of extrapyramidal motor function 58 Frequent (79-30%)
20 mental deterioration 58 Occasional (29-5%)
21 dystonia 58 Very frequent (99-80%)
22 dysdiadochokinesis 58 Occasional (29-5%)
23 upper motor neuron dysfunction 58 Frequent (79-30%)
24 hypoplasia of the corpus callosum 58 Occasional (29-5%)
25 cerebellar atrophy 58 Occasional (29-5%)
26 progressive gait ataxia 58 Frequent (79-30%)
27 growth hormone deficiency 58 Occasional (29-5%)
28 drooling 58 Frequent (79-30%)
29 cerebral hypomyelination 58 Very frequent (99-80%)
30 abnormality of thyroid physiology 58 Occasional (29-5%)
31 abnormal saccadic eye movements 58 Occasional (29-5%)
32 hyperintensity of cerebral white matter on mri 58 Frequent (79-30%)
33 gaze-evoked nystagmus 58 Occasional (29-5%)
34 striatal t2 hyperintensity 58 Very rare (<4-1%)

GenomeRNAi Phenotypes related to Polr3-Related Leukodystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.23 POLR1C POLR3B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.23 POLR3B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.23 POLR1C
4 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.23 POLR1C
5 Increased shRNA abundance (Z-score > 2) GR00366-A-94 9.23 POLR1C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.23 POLR1C POLR3B

Drugs & Therapeutics for Polr3-Related Leukodystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ablation of Ventricular Tachycardia Guided by Multi-site Pacing Using Parallel Mapping Recruiting NCT04477499

Search NIH Clinical Center for Polr3-Related Leukodystrophy

Genetic Tests for Polr3-Related Leukodystrophy

Genetic tests related to Polr3-Related Leukodystrophy:

# Genetic test Affiliating Genes
1 Polr3-Related Leukodystrophy 29
2 Pol Iii-Related Leukodystrophy 29

Anatomical Context for Polr3-Related Leukodystrophy

MalaCards organs/tissues related to Polr3-Related Leukodystrophy:

40
Brain, Eye, Thyroid

Publications for Polr3-Related Leukodystrophy

Articles related to Polr3-Related Leukodystrophy:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 61 6 25
26151409 2015
2
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. 6 25
25339210 2014
3
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. 25 6
23355746 2013
4
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. 6 25
22036171 2011
5
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. 6 25
22036172 2011
6
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. 6 25
21855841 2011
7
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. 6 25
20640464 2010
8
Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. 25 6
18851904 2009
9
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. 25 6
17159124 2006
10
Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity? 25 6
12605447 2003
11
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description. 6 61
26204956 2015
12
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
13
A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report. 6
29618326 2018
14
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. 6
28459997 2017
15
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. 25 61
26045207 2015
16
Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy. 25 61
25868523 2015
17
Epididymal sarcoidosis: a report of two cases and a review of the literature. 6
610060 1977
18
Clear cell sarcoma of tendons and aponeurosis--a case report. 6
614258 1977
19
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts. 25
26478204 2017
20
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. 25
27612211 2016
21
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement. 25
27506977 2016
22
Diffuse hypomyelination is not obligate for POLR3-related disorders. 25
27029625 2016
23
Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature. 25
26113998 2015
24
Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. 25
23694757 2014
25
Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations. 25
23643445 2014
26
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. 25
24105487 2014
27
4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. 25
22451160 2012
28
TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1. 25
22384513 2012
29
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22. 25
20721593 2011
30
A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract. 25
20884016 2011
31
Magnetic resonance imaging pattern recognition in hypomyelinating disorders. 25
20881161 2010
32
Rare dental peculiarities associated with the hypomyelinating leukoencephalopathy 4H syndrome/ADDH. 25
21070704 2010
33
Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient. 25
19700253 2010
34
New case of 4H syndrome and a review of the literature. 25
20399393 2010
35
Structure-function analysis of RNA polymerases I and III. 25
19896367 2009
36
Invited article: an MRI-based approach to the diagnosis of white matter disorders. 25
19237705 2009
37
[Central hypomyelination, hypogonadotrophic hypogonadism and hypodontia: a new leukodystrophy]. 25
18671210 2008
38
Structure of eukaryotic RNA polymerases. 25
18573085 2008
39
The expanding RNA polymerase III transcriptome. 25
17977614 2007
40
Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy. 25
17712733 2007
41
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. 25
15851747 2005
42
5 S rRNA: structure and interactions. 25
12564956 2003
43
Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy. 61
33716926 2021
44
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. 61
33417887 2021
45
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. 61
33005949 2021
46
POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination? 61
33659930 2021
47
POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy. 61
33134519 2020
48
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy. 61
32483275 2020
49
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing. 61
32573057 2020
50
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype. 61
32319736 2020

Variations for Polr3-Related Leukodystrophy

ClinVar genetic disease variations for Polr3-Related Leukodystrophy:

6 (show top 50) (show all 356)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR3B NM_018082.6(POLR3B):c.1857-2A>C SNV Pathogenic 31160 rs267608686 GRCh37: 12:106831457-106831457
GRCh38: 12:106437679-106437679
2 POLR3B NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) SNV Pathogenic 31161 rs267608687 GRCh37: 12:106850925-106850925
GRCh38: 12:106457147-106457147
3 POLR3B NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) SNV Pathogenic 31162 rs267608688 GRCh37: 12:106827517-106827517
GRCh38: 12:106433739-106433739
4 POLR3B NM_018082.6(POLR3B):c.2778C>G (p.Asp926Glu) SNV Pathogenic 31163 rs267608689 GRCh37: 12:106889897-106889897
GRCh38: 12:106496119-106496119
5 POLR3B NM_018082.6(POLR3B):c.1533del (p.Ile511fs) Deletion Pathogenic 31165 rs267608684 GRCh37: 12:106826163-106826163
GRCh38: 12:106432385-106432385
6 POLR3B NM_018082.6(POLR3B):c.1508C>A (p.Thr503Lys) SNV Pathogenic 31164 rs267608683 GRCh37: 12:106826139-106826139
GRCh38: 12:106432361-106432361
7 POLR3B NM_018082.6(POLR3B):c.2686A>T (p.Lys896Ter) SNV Pathogenic 31167 rs267608685 GRCh37: 12:106857371-106857371
GRCh38: 12:106463593-106463593
8 POLR3B NM_018082.6(POLR3B):c.2774C>A (p.Pro925Gln) SNV Pathogenic 375867 rs775141057 GRCh37: 12:106889893-106889893
GRCh38: 12:106496115-106496115
9 POLR3A NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) SNV Pathogenic 31143 rs267608670 GRCh37: 10:79767519-79767519
GRCh38: 10:78007761-78007761
10 POLR3A NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter) SNV Pathogenic 31147 rs267608678 GRCh37: 10:79784801-79784801
GRCh38: 10:78025043-78025043
11 POLR3A NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn) SNV Pathogenic 31148 rs267608681 GRCh37: 10:79753052-79753052
GRCh38: 10:77993294-77993294
12 POLR3A NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) SNV Pathogenic 31149 rs267608682 GRCh37: 10:79745719-79745719
GRCh38: 10:77985961-77985961
13 POLR3A NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn) SNV Pathogenic 41240 rs267608673 GRCh37: 10:79781375-79781375
GRCh38: 10:78021617-78021617
14 POLR3A NM_007055.4(POLR3A):c.1907C>A (p.Ser636Tyr) SNV Pathogenic 41242 rs267608676 GRCh37: 10:79769297-79769297
GRCh38: 10:78009539-78009539
15 POLR3A NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr) SNV Pathogenic 41243 rs267608679 GRCh37: 10:79764550-79764550
GRCh38: 10:78004792-78004792
16 POLR3A NM_007055.4(POLR3A):c.2324A>T (p.Asn775Ile) SNV Pathogenic 41244 rs267608672 GRCh37: 10:79761990-79761990
GRCh38: 10:78002232-78002232
17 POLR3A NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter) SNV Pathogenic 41245 rs267608674 GRCh37: 10:79750883-79750883
GRCh38: 10:77991125-77991125
18 POLR3A NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His) SNV Pathogenic 41246 rs200118797 GRCh37: 10:79745718-79745718
GRCh38: 10:77985960-77985960
19 POLR3A NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro) Insertion Pathogenic 41247 rs267608669 GRCh37: 10:79741928-79741929
GRCh38: 10:77982170-77982171
20 POLR3A NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr) SNV Pathogenic 41248 rs267608680 GRCh37: 10:79739932-79739932
GRCh38: 10:77980174-77980174
21 POLR3A NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter) SNV Pathogenic 41249 rs267608675 GRCh37: 10:79739917-79739917
GRCh38: 10:77980159-77980159
22 POLR3A NM_007055.4(POLR3A):c.3243-1G>A SNV Pathogenic 436361 rs1554837782 GRCh37: 10:79744057-79744057
GRCh38: 10:77984299-77984299
23 POLR3A NM_007055.4(POLR3A):c.2325C>G (p.Asn775Lys) SNV Pathogenic 638561 rs1589310432 GRCh37: 10:79761989-79761989
GRCh38: 10:78002231-78002231
24 POLR3A NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter) SNV Pathogenic 684772 rs1472614573 GRCh37: 10:79769711-79769711
GRCh38: 10:78009953-78009953
25 POLR3A NM_007055.4(POLR3A):c.3583del (p.Asp1195fs) Deletion Pathogenic 684775 rs747683665 GRCh37: 10:79742422-79742422
GRCh38: 10:77982664-77982664
26 HCN1 NM_021072.4(HCN1):c.1562G>T (p.Gly521Val) SNV Pathogenic 976076 GRCh37: 5:45303757-45303757
GRCh38: 5:45303655-45303655
27 POLR3A NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) SNV Pathogenic 430255 rs780839834 GRCh37: 10:79764602-79764602
GRCh38: 10:78004844-78004844
28 POLR3A NM_007055.4(POLR3A):c.601del (p.Ile201fs) Deletion Pathogenic 684774 rs777280350 GRCh37: 10:79784351-79784351
GRCh38: 10:78024593-78024593
29 POLR3B NM_018082.6(POLR3B):c.2084-6A>G SNV Pathogenic 419962 rs747912710 GRCh37: 12:106848274-106848274
GRCh38: 12:106454496-106454496
30 POLR1C NM_203290.4(POLR1C):c.221A>G (p.Asn74Ser) SNV Pathogenic 204587 rs371802902 GRCh37: 6:43487150-43487150
GRCh38: 6:43519412-43519412
31 POLR1C NM_203290.4(POLR1C):c.95A>T (p.Asn32Ile) SNV Pathogenic 204588 rs796052124 GRCh37: 6:43485069-43485069
GRCh38: 6:43517331-43517331
32 POLR1C NM_203290.4(POLR1C):c.436T>C (p.Cys146Arg) SNV Pathogenic 204589 rs796052125 GRCh37: 6:43487857-43487857
GRCh38: 6:43520119-43520119
33 POLR1C NM_203290.4(POLR1C):c.880_882AAG[1] (p.Lys295del) Microsatellite Pathogenic 204590 rs875989826 GRCh37: 6:43488744-43488746
GRCh38: 6:43521006-43521008
34 POLR1C NM_203290.4(POLR1C):c.77C>T (p.Thr26Ile) SNV Pathogenic 204591 rs796052126 GRCh37: 6:43485051-43485051
GRCh38: 6:43517313-43517313
35 POLR1C NM_203290.4(POLR1C):c.326G>A (p.Arg109His) SNV Pathogenic 204592 rs796052127 GRCh37: 6:43487520-43487520
GRCh38: 6:43519782-43519782
36 POLR1C NM_203290.4(POLR1C):c.614del (p.Gly205fs) Deletion Pathogenic 375403 rs1057519456 GRCh37: 6:43488123-43488123
GRCh38: 6:43520385-43520385
37 POLR1C NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) SNV Pathogenic 375402 rs1057519455 GRCh37: 6:43485062-43485062
GRCh38: 6:43517324-43517324
38 POLR1C NM_203290.4(POLR1C):c.69+1G>A SNV Pathogenic 635139 rs1582177745 GRCh37: 6:43484917-43484917
GRCh38: 6:43517179-43517179
39 POLR1C NM_203290.4(POLR1C):c.70-1G>A SNV Pathogenic 280457 rs886041661 GRCh37: 6:43485043-43485043
GRCh38: 6:43517305-43517305
40 POLR1C NM_203290.4(POLR1C):c.79A>G (p.Thr27Ala) SNV Pathogenic 211929 rs144054843 GRCh37: 6:43485053-43485053
GRCh38: 6:43517315-43517315
41 POLR1C NM_203290.4(POLR1C):c.281T>C (p.Val94Ala) SNV Pathogenic 635140 rs1305006253 GRCh37: 6:43487475-43487475
GRCh38: 6:43519737-43519737
42 POLR1C NM_203290.4(POLR1C):c.313A>T (p.Ile105Phe) SNV Pathogenic 635141 rs770637715 GRCh37: 6:43487507-43487507
GRCh38: 6:43519769-43519769
43 POLR1C NM_203290.4(POLR1C):c.322C>T (p.His108Tyr) SNV Pathogenic 635142 rs1015942660 GRCh37: 6:43487516-43487516
GRCh38: 6:43519778-43519778
44 POLR1C NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys) SNV Pathogenic 635143 rs1255115751 GRCh37: 6:43487519-43487519
GRCh38: 6:43519781-43519781
45 POLR1C NM_203290.4(POLR1C):c.349G>C (p.Ala117Pro) SNV Pathogenic 635144 rs1582181247 GRCh37: 6:43487543-43487543
GRCh38: 6:43519805-43519805
46 POLR1C NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) SNV Pathogenic 635145 rs201320592 GRCh37: 6:43487816-43487816
GRCh38: 6:43520078-43520078
47 POLR1C NM_203290.4(POLR1C):c.461_462del (p.Lys154fs) Deletion Pathogenic 635146 rs770857344 GRCh37: 6:43487881-43487882
GRCh38: 6:43520143-43520144
48 POLR1C NM_203290.4(POLR1C):c.502G>A (p.Val168Met) SNV Pathogenic 635147 rs773388338 GRCh37: 6:43487923-43487923
GRCh38: 6:43520185-43520185
49 POLR1C NM_203290.4(POLR1C):c.572G>A (p.Arg191Gln) SNV Pathogenic 285658 rs373046018 GRCh37: 6:43488082-43488082
GRCh38: 6:43520344-43520344
50 POLR1C NM_203290.4(POLR1C):c.616del (p.Gln206fs) Deletion Pathogenic 635148 rs1156407486 GRCh37: 6:43488125-43488125
GRCh38: 6:43520387-43520387

Expression for Polr3-Related Leukodystrophy

Search GEO for disease gene expression data for Polr3-Related Leukodystrophy.

Pathways for Polr3-Related Leukodystrophy

Pathways related to Polr3-Related Leukodystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.84 POLR3B POLR3A POLR1C
2
Show member pathways
11.57 POLR3B POLR3A POLR1C
3 10.73 POLR3B POLR3A POLR1C

GO Terms for Polr3-Related Leukodystrophy

Cellular components related to Polr3-Related Leukodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase III complex GO:0005666 8.8 POLR3B POLR3A POLR1C

Biological processes related to Polr3-Related Leukodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.26 POLR3B POLR3A
2 positive regulation of interferon-beta production GO:0032728 9.16 POLR3B POLR3A
3 transcription, DNA-templated GO:0006351 9.13 POLR3B POLR3A POLR1C
4 positive regulation of type I interferon production GO:0032481 8.8 POLR3B POLR3A POLR1C

Molecular functions related to Polr3-Related Leukodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 8.96 POLR3B POLR3A
2 DNA-directed 5'-3' RNA polymerase activity GO:0003899 8.8 POLR3B POLR3A POLR1C

Sources for Polr3-Related Leukodystrophy

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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