MCID: PLR009
MIFTS: 42

Pol Iii-Related Leukodystrophies malady

Genetic diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Rare diseases categories

Summaries for Pol Iii-Related Leukodystrophies

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Genetics Home Reference:21 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 neurogenic bladder, and has symptoms including abnormality of the genital system, abnormality of the teeth and incoordination. An important gene associated with Pol Iii-Related Leukodystrophies is POLR3A (polymerase (RNA) III (DNA directed) polypeptide A, 155kDa), and among its related pathways are RNA Polymerase I Promoter Opening and Gene Expression. The drugs amphetamine and clonidine and the compounds Thymidine 5'-triphosphate and Adenosine triphosphate have been mentioned in the context of this disorder. Affiliated tissues include brain.

GeneReviews summary for pol3-leuk

Aliases & Classifications for Pol Iii-Related Leukodystrophies

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Pol Iii-Related Leukodystrophies, Aliases & Descriptions:

Name: Pol Iii-Related Leukodystrophies 30 19 20
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 21 60
Pol Iii-Related Leukodystrophy 21 22
4h Syndrome 21 47
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 21
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 60
Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum 21
Hypomyelination - Hypogonadotropic Hypogonadism - Hypodontia 47
Leukoencephalopathy - Ataxia - Hypodontia - Hypomyelination 47
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism 21
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination 21
Leukodystrophy, Dysmyelinating, with Oligodontia 60
Pol Iii-Related Hypomyelinating Leukodystrophies 21
Ataxia, Delayed Dentition, and Hypomyelination 21
 
Ataxia - Delayed Dentition - Hypomyelination 47
Tremor-Ataxia with Central Hypomyelination 21
Attention Deficit Hyperactivity Disorder 60
Leukodystrophy with Oligodontia 21
Dentoleukoencephalopathy 21
Odontoleukodystrophy 21
Pol Iii Disorder 21
Hcahc 21
Tach 21
Hld8 21
Addh 21
Hld7 21
Lo 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
leukoencephalopathy - ataxia - hypodontia - hypomyelination:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
4h syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy


External Ids:

Orphanet47 137639, 88637
ICD10 via Orphanet26 E75.2, G11.1

Related Diseases for Pol Iii-Related Leukodystrophies

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



Diseases related to pol iii-related leukodystrophies

Symptoms for Pol Iii-Related Leukodystrophies

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Symptoms:

 47
  • anomalies of teeth and dentition
  • late puberty/hypogonadism/hypogenitalism
  • ataxia/incoordination/trouble of the equilibrium

HPO human phenotypes related to Pol Iii-Related Leukodystrophies:

id Description Frequency HPO Source Accession
1 abnormality of the genital system hallmark (90%) HP:0000078
2 abnormality of the teeth hallmark (90%) HP:0000164
3 incoordination hallmark (90%) HP:0002311

Genetic Tests for Pol Iii-Related Leukodystrophies

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Genetic tests related to Pol Iii-Related Leukodystrophies:

id Genetic test Affiliating Genes
1 Pol Iii-Related Leukodystrophies20 POLR3A, POLR3B
2 Pol Iii-Related Leukodystrophy22

Anatomical Context for Pol Iii-Related Leukodystrophies

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

31
Brain

Animal Models for Pol Iii-Related Leukodystrophies or affiliated genes

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Publications for Pol Iii-Related Leukodystrophies

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Articles related to Pol Iii-Related Leukodystrophies:

idTitleAuthorsYear
1
Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy. (25868523)
2015
2
Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies. (24105487)
2014
3
Pol III-Related Leukodystrophies (22855961)
1993

Variations for Pol Iii-Related Leukodystrophies

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Clinvar genetic disease variations for Pol Iii-Related Leukodystrophies:

6 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1POLR3ANM_007055.3(POLR3A): c.2015G> A (p.Gly672Glu)single nucleotide variantPathogenicrs267608670GRCh37Chr 10, 79767519: 79767519
2POLR3ANM_007055.3(POLR3A): c.1909+18G> Asingle nucleotide variantPathogenicrs267608677GRCh37Chr 10, 79769277: 79769277
3POLR3ANM_007055.3(POLR3A): c.2554A> G (p.Met852Val)single nucleotide variantPathogenicrs267608671GRCh37Chr 10, 79759801: 79759801
4POLR3ANM_007055.3(POLR3A): c.2617-1G> Asingle nucleotide variantPathogenicrs181087667GRCh37Chr 10, 79753126: 79753126
5POLR3ANM_007055.3(POLR3A): c.418C> T (p.Arg140Ter)single nucleotide variantPathogenicrs267608678GRCh37Chr 10, 79784801: 79784801
6POLR3ANM_007055.3(POLR3A): c.2690T> A (p.Ile897Asn)single nucleotide variantPathogenicrs267608681GRCh37Chr 10, 79753052: 79753052
7POLR3ANM_007055.3(POLR3A): c.3013C> T (p.Arg1005Cys)single nucleotide variantPathogenicrs267608682GRCh37Chr 10, 79745719: 79745719
8POLR3BNM_018082.5(POLR3B): c.1857-2A> Csingle nucleotide variantPathogenicrs267608686GRCh37Chr 12, 106831457: 106831457
9POLR3BNM_018082.5(POLR3B): c.2303G> A (p.Arg768His)single nucleotide variantPathogenicrs267608687GRCh37Chr 12, 106850925: 106850925
10POLR3BNM_018082.5(POLR3B): c.1648C> T (p.Arg550Ter)single nucleotide variantPathogenicrs267608688GRCh37Chr 12, 106827517: 106827517
11POLR3BNM_018082.5(POLR3B): c.2778C> G (p.Asp926Glu)single nucleotide variantPathogenicrs267608689GRCh37Chr 12, 106889897: 106889897
12POLR3BNM_018082.5(POLR3B): c.1508C> A (p.Thr503Lys)single nucleotide variantPathogenicrs267608683GRCh37Chr 12, 106826139: 106826139
13POLR3BNM_018082.5(POLR3B): c.1533delT (p.Ile511Metfs)deletionPathogenicrs267608684GRCh37Chr 12, 106826164: 106826164
14POLR3BNM_018082.5(POLR3B): c.1568T> A (p.Val523Glu)single nucleotide variantPathogenicrs138249161GRCh37Chr 12, 106826199: 106826199
15POLR3BNM_018082.5(POLR3B): c.2686A> T (p.Lys896Ter)single nucleotide variantPathogenicrs267608685GRCh37Chr 12, 106857371: 106857371
16POLR3ANM_007055.3(POLR3A): c.1114G> A (p.Asp372Asn)single nucleotide variantPathogenicrs267608673GRCh37Chr 10, 79781375: 79781375
17POLR3ANM_007055.3(POLR3A): c.1674C> G (p.Phe558Leu)single nucleotide variantPathogenicrs267608668GRCh37Chr 10, 79769718: 79769718
18POLR3ANM_007055.3(POLR3A): c.1907C> A (p.Ser636Tyr)single nucleotide variantPathogenicrs267608676GRCh37Chr 10, 79769297: 79769297
19POLR3ANM_007055.3(POLR3A): c.2171G> A (p.Cys724Tyr)single nucleotide variantPathogenicrs267608679GRCh37Chr 10, 79764550: 79764550
20POLR3ANM_007055.3(POLR3A): c.2324A> T (p.Asn775Ile)single nucleotide variantPathogenicrs267608672GRCh37Chr 10, 79761990: 79761990
21POLR3ANM_007055.3(POLR3A): c.2830G> T (p.Glu944Ter)single nucleotide variantPathogenicrs267608674GRCh37Chr 10, 79750883: 79750883
22POLR3ANM_007055.3(POLR3A): c.3014G> A (p.Arg1005His)single nucleotide variantPathogenicrs200118797GRCh37Chr 10, 79745718: 79745718
23POLR3ANM_007055.3(POLR3A): c.3742_3743insACC (p.Ser1248delinsTyrPro)insertionPathogenicrs267608669GRCh37Chr 10, 79741928: 79741929
24POLR3ANM_007055.3(POLR3A): c.3991G> A (p.Ala1331Thr)single nucleotide variantPathogenicrs267608680GRCh37Chr 10, 79739932: 79739932
25POLR3ANM_007055.3(POLR3A): c.4006C> T (p.Gln1336Ter)single nucleotide variantPathogenicrs267608675GRCh37Chr 10, 79739917: 79739917

Expression for genes affiliated with Pol Iii-Related Leukodystrophies

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

Pathways for genes affiliated with Pol Iii-Related Leukodystrophies

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1POLR3A, POLR3B
2
Show member pathways
9.1POLR3A, POLR3B
3
Show member pathways
UTP and CTP dephosphorylation II36
ATP ITP metabolism58
purine deoxyribonucleosides salvage36
9.1POLR3B, POLR3A
49.1POLR3A, POLR3B
5
Show member pathways
9.1POLR3A, POLR3B
6
Show member pathways
9.1POLR3A, POLR3B

Compounds for genes affiliated with Pol Iii-Related Leukodystrophies

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

idCompoundScoreTop Affiliating Genes
1Thymidine 5'-triphosphate249.1POLR3A, POLR3B
2Adenosine triphosphate24 1210.1POLR3A, POLR3B
3Cytidine triphosphate249.0POLR3A, POLR3B
4Guanosine triphosphate248.8POLR3A, POLR3B

GO Terms for genes affiliated with Pol Iii-Related Leukodystrophies

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

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056549.1POLR3A, POLR3B
2DNA-directed RNA polymerase III complexGO:00056668.8POLR3A, POLR3B

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1transcription elongation from RNA polymerase III promoterGO:00063859.3POLR3A, POLR3B
2termination of RNA polymerase III transcriptionGO:00063869.3POLR3A, POLR3B
3positive regulation of interferon-beta productionGO:00327289.2POLR3A, POLR3B
4transcription from RNA polymerase III promoterGO:00063839.2POLR3A, POLR3B
5positive regulation of type I interferon productionGO:00324819.1POLR3B, POLR3A
6gene expressionGO:00104679.1POLR3A, POLR3B
7defense response to virusGO:00516079.0POLR3A, POLR3B
8innate immune responseGO:00450878.8POLR3A, POLR3B

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

idNameGO IDScoreTop Affiliating Genes
1metal ion bindingGO:00468729.1POLR3A, POLR3B
2RNA polymerase III activityGO:00010569.0POLR3A, POLR3B
3DNA bindingGO:00036778.8POLR3A, POLR3B

Products for genes affiliated with Pol Iii-Related Leukodystrophies

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pol Iii-Related Leukodystrophies

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet