MCID: PLR009
MIFTS: 40

Pol Iii-Related Leukodystrophies

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

Aliases & Classifications for Pol Iii-Related Leukodystrophies

MalaCards integrated aliases for Pol Iii-Related Leukodystrophies:

Name: Pol Iii-Related Leukodystrophies 37
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 24 69
Pol Iii-Related Leukodystrophy 24 28
4h Syndrome 24 55
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 24
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 69
Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum 24
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome 55
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism 24
Ribonucleic Acid Polymerase Iii-Related Leukodystrophy 24
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination 24
Pol Iii-Related Hypomyelinating Leukodystrophies 24
Leukodystrophy, Dysmyelinating, with Oligodontia 69
Ataxia, Delayed Dentition, and Hypomyelination 24
Tremor-Ataxia with Central Hypomyelination 24
Attention Deficit Hyperactivity Disorder 69
Leukodystrophy with Oligodontia 24
Dentoleukoencephalopathy 24
Odontoleukodystrophy 24
Pol Iii Disorder 24
Hcahc 24
Hld7 24
Addh 24
Hld8 24
Tach 24
Lo 24

Characteristics:

Orphanet epidemiological data:

55
hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

Classifications:



External Ids:

Orphanet 55 ORPHA88637
UMLS via Orphanet 70 C2676243
ICD10 via Orphanet 33 G11.1

Summaries for Pol Iii-Related Leukodystrophies

Genetics Home Reference : 24 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 and leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, and has symptoms including hypodontia, hypergonadotropic hypogonadism and ataxia. 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 phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Pol Iii-Related Leukodystrophies

Diseases related to Pol Iii-Related Leukodystrophies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leukodystrophy 29.4 POLR1C POLR3A POLR3B
2 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 13.0
3 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.9
4 neurogenic bladder 10.1
5 treacher collins syndrome 1 9.7 POLR1C POLR3B
6 hypomyelinating leukoencephalopathy 9.6 POLR3A POLR3B
7 hypogonadism 9.4 POLR3A POLR3B
8 tooth agenesis 9.3 POLR3A POLR3B
9 hypomyelinating leukodystrophy 9.2 POLR1C POLR3A POLR3B

Comorbidity relations with Pol Iii-Related Leukodystrophies via Phenotypic Disease Network (PDN):


Acute Cystitis

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:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypodontia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000668
2 hypergonadotropic hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000815
3 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 cns hypomyelination 55 31 hallmark (90%) Very frequent (99-80%) HP:0003429

UMLS symptoms related to Pol Iii-Related Leukodystrophies:


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

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

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.74 POLR1C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.74 POLR1C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.74 POLR3B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.74 POLR1C POLR3B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.74 POLR1C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.74 POLR3B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.74 POLR3B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.74 POLR1C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.74 POLR1C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.74 POLR3B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.74 POLR3B POLR1C

Genetic Tests for Pol Iii-Related Leukodystrophies

Genetic tests related to Pol Iii-Related Leukodystrophies:

# Genetic test Affiliating Genes
1 Pol Iii-Related Leukodystrophy 28

Anatomical Context for Pol Iii-Related Leukodystrophies

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

38
Brain

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
# 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
8 POLR3B NM_018082.5(POLR3B): c.2774C> A (p.Pro925Gln) single nucleotide variant Pathogenic rs775141057 GRCh38 Chromosome 12, 106496115: 106496115

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
12.96 POLR1C POLR3A POLR3B
2
Show member pathways
12.13 POLR1C POLR3A POLR3B
3
Show member pathways
12 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:

# Name GO ID Score Top Affiliating Genes
1 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:

# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.5 POLR1C POLR3A POLR3B
2 immune system process GO:0002376 9.37 POLR3A POLR3B
3 defense response to virus GO:0051607 9.26 POLR3A POLR3B
4 positive regulation of interferon-beta production GO:0032728 9.16 POLR3A POLR3B
5 positive regulation of type I interferon production GO:0032481 9.13 POLR1C POLR3A POLR3B
6 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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