LO
MCID: PLR009
MIFTS: 38

Pol Iii-Related Leukodystrophies (LO) malady

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

Aliases & Classifications for Pol Iii-Related Leukodystrophies

Aliases & Descriptions for Pol Iii-Related Leukodystrophies:

Name: Pol Iii-Related Leukodystrophies 38 24
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 25 69
Pol Iii-Related Leukodystrophy 25 29
4h Syndrome 25 56
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 25
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 69
Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum 25
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome 56
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism 25
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination 25
Pol Iii-Related Hypomyelinating Leukodystrophies 25
Leukodystrophy, Dysmyelinating, with Oligodontia 69
Ataxia, Delayed Dentition, and Hypomyelination 25
Tremor-Ataxia with Central Hypomyelination 25
Attention Deficit Hyperactivity Disorder 69
Pol Iii Related Leukodystrophies 24
Leukodystrophy with Oligodontia 25
Dentoleukoencephalopathy 25
Odontoleukodystrophy 25
Pol Iii Disorder 25
Hcahc 25
Hld7 25
Hld8 25
Addh 25
Tach 25
Lo 25

Characteristics:

Orphanet epidemiological data:

56
hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

Classifications:



External Ids:

Orphanet 56 ORPHA88637
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 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, is related to leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism and leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, and has symptoms including ataxia, hypergonadotropic hypogonadism and hypodontia. An important gene associated with Pol Iii-Related Leukodystrophies is POLR3B (RNA Polymerase III Subunit B), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. Affiliated tissues include brain, and related phenotype is Increased shRNA abundance (Z-score > 2).

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:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 hypergonadotropic hypogonadism 56 32 Very frequent (99-80%) HP:0000815
3 hypodontia 56 32 Very frequent (99-80%) HP:0000668
4 cns hypomyelination 56 32 Very frequent (99-80%) HP:0003429

UMLS symptoms related to Pol Iii-Related Leukodystrophies:


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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.44 POLR1C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.44 POLR1C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.44 POLR3B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.44 POLR1C POLR3B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.44 POLR1C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.44 POLR3B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.44 POLR3B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.44 POLR1C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.44 POLR1C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.44 POLR3B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.44 POLR1C POLR3B

Genetic Tests for Pol Iii-Related Leukodystrophies

Genetic tests related to Pol Iii-Related Leukodystrophies:

id Genetic test Affiliating Genes
1 Pol Iii-Related Leukodystrophy 29
2 Pol Iii-Related Leukodystrophies 24 POLR3A POLR3B

Anatomical Context for Pol Iii-Related Leukodystrophies

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

39
Brain

Publications for Pol Iii-Related Leukodystrophies

Articles related to Pol Iii-Related Leukodystrophies:

id Title Authors Year
1
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description. ( 26204956 )
2015
2
Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy. ( 25868523 )
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
id Gene Variation Type Significance SNP ID Assembly Location
1 POLR3B NM_018082.5(POLR3B): c.1857-2A> C single nucleotide variant Pathogenic rs267608686 GRCh37 Chromosome 12, 106831457: 106831457
2 POLR3B NM_018082.5(POLR3B): c.2303G> A (p.Arg768His) single nucleotide variant Pathogenic rs267608687 GRCh37 Chromosome 12, 106850925: 106850925
3 POLR3B NM_018082.5(POLR3B): c.1648C> T (p.Arg550Ter) single nucleotide variant Pathogenic rs267608688 GRCh37 Chromosome 12, 106827517: 106827517
4 POLR3B NM_018082.5(POLR3B): c.2778C> G (p.Asp926Glu) single nucleotide variant Pathogenic rs267608689 GRCh37 Chromosome 12, 106889897: 106889897
5 POLR3B NM_018082.5(POLR3B): c.1508C> A (p.Thr503Lys) single nucleotide variant Pathogenic rs267608683 GRCh37 Chromosome 12, 106826139: 106826139
6 POLR3B NM_018082.5(POLR3B): c.1533delT (p.Ile511Metfs) deletion Pathogenic rs267608684 GRCh37 Chromosome 12, 106826164: 106826164
7 POLR3B NM_018082.5(POLR3B): c.2686A> T (p.Lys896Ter) single nucleotide variant Pathogenic rs267608685 GRCh37 Chromosome 12, 106857371: 106857371

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 GNB5 POLR1C POLR3A POLR3B
2
Show member pathways
12.14 POLR1C POLR3A POLR3B
3
Show member pathways
12.01 POLR1C POLR3A POLR3B
4
Show member pathways
11.78 POLR1C POLR3A POLR3B
5
Show member pathways
11.54 POLR1C POLR3A POLR3B
6 11.11 POLR1C POLR3A POLR3B

GO Terms for Pol Iii-Related Leukodystrophies

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.35 GNB5 MECP2 POLR1C POLR3A POLR3B
2 DNA-directed 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:

id Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.56 MECP2 POLR1C POLR3A POLR3B
2 defense response to virus GO:0051607 9.32 POLR3A POLR3B
3 positive regulation of interferon-beta production GO:0032728 9.16 POLR3A POLR3B
4 positive regulation of type I interferon production GO:0032481 9.13 POLR1C POLR3A POLR3B
5 transcription from RNA polymerase III promoter GO:0006383 8.8 POLR1C POLR3A POLR3B

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.56 MECP2 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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