LO
MCID: PLR009
MIFTS: 48

Pol Iii-Related Leukodystrophies (LO)

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

Aliases & Classifications for Pol Iii-Related Leukodystrophies

MalaCards integrated aliases for Pol Iii-Related Leukodystrophies:

Name: Pol Iii-Related Leukodystrophies 38
Pol Iii-Related Leukodystrophy 25 29 6
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 25 73
4h Syndrome 25 59
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 25
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 73
Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum 25
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome 59
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism 25
Ribonucleic Acid Polymerase Iii-Related Leukodystrophy 25
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination 25
Pol Iii-Related Hypomyelinating Leukodystrophies 25
Leukodystrophy, Dysmyelinating, with Oligodontia 73
Ataxia, Delayed Dentition, and Hypomyelination 25
Tremor-Ataxia with Central Hypomyelination 25
Attention Deficit Hyperactivity Disorder 73
Leukodystrophy with Oligodontia 25
Dentoleukoencephalopathy 25
Odontoleukodystrophy 25
Pol Iii Disorder 25
Hcahc 25
Hld7 25
Addh 25
Hld8 25
Tach 25
Lo 25

Characteristics:

Orphanet epidemiological data:

59
hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

Classifications:



External Ids:

Orphanet 59 ORPHA88637
UMLS via Orphanet 74 C2676243
ICD10 via Orphanet 34 G11.1

Summaries for Pol Iii-Related Leukodystrophies

Genetics Home Reference : 25 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 fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses.

MalaCards based summary : Pol Iii-Related Leukodystrophies, also known as pol iii-related leukodystrophy, is related to hypomyelinating leukoencephalopathy and leukodystrophy, and has symptoms including seizures, ataxia and tremor. An important gene associated with Pol Iii-Related Leukodystrophies is POLR3A (RNA Polymerase III Subunit A), and among its related pathways/superpathways are Gene Expression and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Affiliated tissues include brain, testes and eye, and related phenotypes are ataxia and hypergonadotropic hypogonadism

Related Diseases for Pol Iii-Related Leukodystrophies

Graphical network of the top 20 diseases related to Pol Iii-Related Leukodystrophies:



Diseases related to Pol Iii-Related Leukodystrophies

Symptoms & Phenotypes for Pol Iii-Related Leukodystrophies

Human phenotypes related to Pol Iii-Related Leukodystrophies:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 hypergonadotropic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000815
3 hypodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000668
4 cns hypomyelination 59 32 hallmark (90%) Very frequent (99-80%) HP:0003429

UMLS symptoms related to Pol Iii-Related Leukodystrophies:


seizures, ataxia, tremor, back pain, pain, dysdiadochokinesis, headache, syncope, chronic pain, sciatica, cerebellar ataxia, cerebellar signs, upper motor neuron signs, vertigo/dizziness, sleeplessness, muscle spasticity, static tremor

GenomeRNAi Phenotypes related to Pol Iii-Related Leukodystrophies according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.7 POLR1C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.7 POLR1C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.7 POLR3B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.7 POLR1C POLR3B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.7 POLR1C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.7 POLR3B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.7 POLR1C
8 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.7 POLR1C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.7 POLR3B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.7 POLR1C POLR3B

Genetic Tests for Pol Iii-Related Leukodystrophies

Genetic tests related to Pol Iii-Related Leukodystrophies:

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

Anatomical Context for Pol Iii-Related Leukodystrophies

MalaCards organs/tissues related to Pol Iii-Related Leukodystrophies:

41
Brain, Testes, Eye, Cortex, Skin, Liver, Heart

Publications for Pol Iii-Related Leukodystrophies

Articles related to Pol Iii-Related Leukodystrophies:

# Title Authors Year
1
Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy. ( 25868523 )
2015
2
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description. ( 26204956 )
2015
3
Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies. ( 24105487 )
2014
4
Pol III-Related Leukodystrophies ( 22855961 )
1993

Variations for Pol Iii-Related Leukodystrophies

ClinVar genetic disease variations for Pol Iii-Related Leukodystrophies:

6 (show top 50) (show all 312)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLR3B NM_018082.5(POLR3B): c.2055T> C (p.Tyr685=) single nucleotide variant Benign rs10861607 GRCh37 Chromosome 12, 106838340: 106838340
2 POLR3B NM_018082.5(POLR3B): c.2055T> C (p.Tyr685=) single nucleotide variant Benign rs10861607 GRCh38 Chromosome 12, 106444562: 106444562
3 POLR3B NM_018082.5(POLR3B): c.2218A> G (p.Thr740Ala) single nucleotide variant Likely benign rs17038460 GRCh37 Chromosome 12, 106848414: 106848414
4 POLR3B NM_018082.5(POLR3B): c.2218A> G (p.Thr740Ala) single nucleotide variant Likely benign rs17038460 GRCh38 Chromosome 12, 106454636: 106454636
5 POLR3B NM_018082.5(POLR3B): c.3396T> C (p.Asn1132=) single nucleotide variant Benign rs13561 GRCh37 Chromosome 12, 106903321: 106903321
6 POLR3B NM_018082.5(POLR3B): c.3396T> C (p.Asn1132=) single nucleotide variant Benign rs13561 GRCh38 Chromosome 12, 106509543: 106509543
7 POLR3A NM_007055.3(POLR3A): c.3436G> A (p.Ala1146Thr) single nucleotide variant Uncertain significance rs41274600 GRCh38 Chromosome 10, 77982811: 77982811
8 POLR3A NM_007055.3(POLR3A): c.3436G> A (p.Ala1146Thr) single nucleotide variant Uncertain significance rs41274600 GRCh37 Chromosome 10, 79742569: 79742569
9 POLR3A NM_007055.3(POLR3A): c.2938A> G (p.Ile980Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146253630 GRCh38 Chromosome 10, 77986123: 77986123
10 POLR3A NM_007055.3(POLR3A): c.2938A> G (p.Ile980Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146253630 GRCh37 Chromosome 10, 79745881: 79745881
11 POLR3A NM_007055.3(POLR3A): c.*1782G> A single nucleotide variant Likely benign rs11817392 GRCh37 Chromosome 10, 79735454: 79735454
12 POLR3A NM_007055.3(POLR3A): c.*1782G> A single nucleotide variant Likely benign rs11817392 GRCh38 Chromosome 10, 77975696: 77975696
13 POLR3A NM_007055.3(POLR3A): c.*1569C> T single nucleotide variant Uncertain significance rs886047278 GRCh37 Chromosome 10, 79735667: 79735667
14 POLR3A NM_007055.3(POLR3A): c.*1569C> T single nucleotide variant Uncertain significance rs886047278 GRCh38 Chromosome 10, 77975909: 77975909
15 POLR3A NM_007055.3(POLR3A): c.*989G> A single nucleotide variant Uncertain significance rs570095005 GRCh38 Chromosome 10, 77976489: 77976489
16 POLR3A NM_007055.3(POLR3A): c.*989G> A single nucleotide variant Uncertain significance rs570095005 GRCh37 Chromosome 10, 79736247: 79736247
17 POLR3A NM_007055.3(POLR3A): c.*936T> G single nucleotide variant Uncertain significance rs560141767 GRCh38 Chromosome 10, 77976542: 77976542
18 POLR3A NM_007055.3(POLR3A): c.*936T> G single nucleotide variant Uncertain significance rs560141767 GRCh37 Chromosome 10, 79736300: 79736300
19 POLR3A NM_007055.3(POLR3A): c.*272G> C single nucleotide variant Benign rs2241547 GRCh38 Chromosome 10, 77977206: 77977206
20 POLR3A NM_007055.3(POLR3A): c.*272G> C single nucleotide variant Benign rs2241547 GRCh37 Chromosome 10, 79736964: 79736964
21 POLR3A NM_007055.3(POLR3A): c.*135G> T single nucleotide variant Uncertain significance rs531659725 GRCh37 Chromosome 10, 79737101: 79737101
22 POLR3A NM_007055.3(POLR3A): c.*135G> T single nucleotide variant Uncertain significance rs531659725 GRCh38 Chromosome 10, 77977343: 77977343
23 POLR3A NM_007055.3(POLR3A): c.3858C> T (p.His1286=) single nucleotide variant Uncertain significance rs373306216 GRCh37 Chromosome 10, 79741219: 79741219
24 POLR3A NM_007055.3(POLR3A): c.3858C> T (p.His1286=) single nucleotide variant Uncertain significance rs373306216 GRCh38 Chromosome 10, 77981461: 77981461
25 POLR3A NM_007055.3(POLR3A): c.3697C> A (p.Arg1233=) single nucleotide variant Uncertain significance rs576629157 GRCh37 Chromosome 10, 79741974: 79741974
26 POLR3A NM_007055.3(POLR3A): c.3697C> A (p.Arg1233=) single nucleotide variant Uncertain significance rs576629157 GRCh38 Chromosome 10, 77982216: 77982216
27 POLR3A NM_007055.3(POLR3A): c.3036A> G (p.Glu1012=) single nucleotide variant Uncertain significance rs192102097 GRCh37 Chromosome 10, 79745696: 79745696
28 POLR3A NM_007055.3(POLR3A): c.3036A> G (p.Glu1012=) single nucleotide variant Uncertain significance rs192102097 GRCh38 Chromosome 10, 77985938: 77985938
29 POLR3A NM_007055.3(POLR3A): c.2976C> T (p.Asn992=) single nucleotide variant Uncertain significance rs143461869 GRCh37 Chromosome 10, 79745843: 79745843
30 POLR3A NM_007055.3(POLR3A): c.2976C> T (p.Asn992=) single nucleotide variant Uncertain significance rs143461869 GRCh38 Chromosome 10, 77986085: 77986085
31 POLR3A NM_007055.3(POLR3A): c.2898G> A (p.Leu966=) single nucleotide variant Uncertain significance rs530909493 GRCh37 Chromosome 10, 79750815: 79750815
32 POLR3A NM_007055.3(POLR3A): c.2898G> A (p.Leu966=) single nucleotide variant Uncertain significance rs530909493 GRCh38 Chromosome 10, 77991057: 77991057
33 POLR3A NM_007055.3(POLR3A): c.2433C> T (p.Asp811=) single nucleotide variant Uncertain significance rs757277769 GRCh38 Chromosome 10, 78001021: 78001021
34 POLR3A NM_007055.3(POLR3A): c.2433C> T (p.Asp811=) single nucleotide variant Uncertain significance rs757277769 GRCh37 Chromosome 10, 79760779: 79760779
35 POLR3A NM_007055.3(POLR3A): c.2100C> T (p.Ile700=) single nucleotide variant Likely benign rs79793998 GRCh38 Chromosome 10, 78004863: 78004863
36 POLR3A NM_007055.3(POLR3A): c.2100C> T (p.Ile700=) single nucleotide variant Likely benign rs79793998 GRCh37 Chromosome 10, 79764621: 79764621
37 POLR3A NM_007055.3(POLR3A): c.2074+9C> G single nucleotide variant Uncertain significance rs886047286 GRCh38 Chromosome 10, 78007693: 78007693
38 POLR3A NM_007055.3(POLR3A): c.2074+9C> G single nucleotide variant Uncertain significance rs886047286 GRCh37 Chromosome 10, 79767451: 79767451
39 POLR3A NM_007055.3(POLR3A): c.1642+9G> C single nucleotide variant Uncertain significance rs763849177 GRCh38 Chromosome 10, 78010462: 78010462
40 POLR3A NM_007055.3(POLR3A): c.1642+9G> C single nucleotide variant Uncertain significance rs763849177 GRCh37 Chromosome 10, 79770220: 79770220
41 POLR3A NM_007055.3(POLR3A): c.1369G> A (p.Gly457Arg) single nucleotide variant Uncertain significance rs768880752 GRCh38 Chromosome 10, 78017637: 78017637
42 POLR3A NM_007055.3(POLR3A): c.1369G> A (p.Gly457Arg) single nucleotide variant Uncertain significance rs768880752 GRCh37 Chromosome 10, 79777395: 79777395
43 POLR3A NM_007055.3(POLR3A): c.701A> T (p.Asp234Val) single nucleotide variant Uncertain significance rs375183429 GRCh37 Chromosome 10, 79782087: 79782087
44 POLR3A NM_007055.3(POLR3A): c.701A> T (p.Asp234Val) single nucleotide variant Uncertain significance rs375183429 GRCh38 Chromosome 10, 78022329: 78022329
45 POLR3A NM_007055.3(POLR3A): c.481G> A (p.Ala161Thr) single nucleotide variant Uncertain significance rs368716943 GRCh37 Chromosome 10, 79784738: 79784738
46 POLR3A NM_007055.3(POLR3A): c.481G> A (p.Ala161Thr) single nucleotide variant Uncertain significance rs368716943 GRCh38 Chromosome 10, 78024980: 78024980
47 POLR3A NM_007055.3(POLR3A): c.156A> G (p.Leu52=) single nucleotide variant Uncertain significance rs373974792 GRCh37 Chromosome 10, 79785876: 79785876
48 POLR3A NM_007055.3(POLR3A): c.156A> G (p.Leu52=) single nucleotide variant Uncertain significance rs373974792 GRCh38 Chromosome 10, 78026118: 78026118
49 POLR3A; RPS24 NM_007055.3(POLR3A): c.-103T> A single nucleotide variant Conflicting interpretations of pathogenicity rs117201371 GRCh37 Chromosome 10, 79789268: 79789268
50 POLR3A; RPS24 NM_007055.3(POLR3A): c.-103T> A single nucleotide variant Conflicting interpretations of pathogenicity rs117201371 GRCh38 Chromosome 10, 78029510: 78029510

Expression for Pol Iii-Related Leukodystrophies

Search GEO for disease gene expression data for Pol Iii-Related Leukodystrophies.

Pathways for Pol Iii-Related Leukodystrophies

Pathways related to Pol Iii-Related Leukodystrophies according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 POLR1C POLR3A POLR3B
2
Show member pathways
12.92 POLR1C POLR3A POLR3B
3
Show member pathways
12.1 POLR1C POLR3A POLR3B
4
Show member pathways
11.9 POLR1C POLR3A POLR3B
5
Show member pathways
11.58 POLR1C POLR3A POLR3B
6
Show member pathways
11.21 POLR1C POLR3A POLR3B

GO Terms for Pol Iii-Related Leukodystrophies

Cellular components related to Pol Iii-Related Leukodystrophies according to GeneCards Suite gene sharing:

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

Biological processes related to Pol Iii-Related Leukodystrophies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.32 POLR3A POLR3B
2 defense response to virus GO:0051607 9.26 POLR3A POLR3B
3 positive regulation of interferon-beta production GO:0032728 9.16 POLR3A POLR3B
4 transcription, DNA-templated GO:0006351 9.13 POLR1C POLR3A POLR3B
5 transcription by RNA polymerase III GO:0006383 8.8 POLR1C POLR3A POLR3B

Molecular functions related to Pol Iii-Related Leukodystrophies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.43 POLR1C POLR3A POLR3B
2 nucleotidyltransferase activity GO:0016779 9.16 POLR3A POLR3B
3 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.13 POLR1C POLR3A POLR3B
4 RNA polymerase III activity GO:0001056 8.8 POLR1C POLR3A POLR3B

Sources for Pol Iii-Related Leukodystrophies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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