MCID: PLR009
MIFTS: 43

Pol Iii-Related Leukodystrophies malady

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

Aliases & Classifications for Pol Iii-Related Leukodystrophies

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Aliases & Descriptions for Pol Iii-Related Leukodystrophies:

Name: Pol Iii-Related Leukodystrophies 32 21 22
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 23 65
Leukodystrophy with Oligodontia 23 51
Pol Iii-Related Leukodystrophy 23 24
Dentoleukoencephalopathy 23 51
Odontoleukodystrophy 23 51
4h Syndrome 23 51
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 23
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 65
Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum 23
Hypomyelination - Hypogonadotropic Hypogonadism - Hypodontia 51
Leukoencephalopathy - Ataxia - Hypodontia - Hypomyelination 51
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism 23
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination 23
 
Pol Iii-Related Hypomyelinating Leukodystrophies 23
Leukodystrophy, Dysmyelinating, with Oligodontia 65
Ataxia, Delayed Dentition, and Hypomyelination 23
Ataxia - Delayed Dentition - Hypomyelination 51
Tremor-Ataxia with Central Hypomyelination 23
Attention Deficit Hyperactivity Disorder 65
Pol Iii Disorder 23
Hcahc 23
Hld8 23
Tach 23
Addh 23
Hld7 23
Lo 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
leukoencephalopathy - ataxia - hypodontia - hypomyelination:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
leukodystrophy with oligodontia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
4h syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy


External Ids:

Orphanet51 137639, 77295, 88637
ICD10 via Orphanet28 E75.2, G11.1

Summaries for Pol Iii-Related Leukodystrophies

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Genetics Home Reference:23 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 abnormality of the genital system, abnormality of the teeth and incoordination. An important gene associated with Pol Iii-Related Leukodystrophies is POLR3B (Polymerase (RNA) III (DNA Directed) Polypeptide B), and among its related pathways are Transcription of tRNA and Chromatin Regulation / Acetylation. The drugs selegiline and selegiline hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include brain.

GeneReviews summary for pol3-leuk

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:

 51
  • 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 Leukodystrophies22 POLR3A, POLR3B
2 Pol Iii-Related Leukodystrophy24

Anatomical Context for Pol Iii-Related Leukodystrophies

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

33
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
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

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Clinvar genetic disease variations for Pol Iii-Related Leukodystrophies:

5 (show all 36)
id Gene Variation Type Significance SNP ID Assembly Location
1MECP2NM_001110792.1(MECP2)indelPathogenicrs786205019GRCh38Chr X, 154030644: 154030664
2POLR1CNM_203290.2(POLR1C): c.221A> G (p.Asn74Ser)single nucleotide variantPathogenicrs371802902GRCh38Chr 6, 43519412: 43519412
3POLR1CNM_203290.2(POLR1C): c.95A> T (p.Asn32Ile)single nucleotide variantPathogenicrs796052124GRCh37Chr 6, 43485069: 43485069
4POLR1CNM_203290.2(POLR1C): c.436T> C (p.Cys146Arg)single nucleotide variantPathogenicrs796052125GRCh37Chr 6, 43487857: 43487857
5POLR1CPOLR1C, 3-BP DEL, 883AAGdeletionPathogenic
6POLR1CNM_203290.2(POLR1C): c.77C> T (p.Thr26Ile)single nucleotide variantPathogenicrs796052126GRCh37Chr 6, 43485051: 43485051
7POLR1CNM_203290.2(POLR1C): c.326G> A (p.Arg109His)single nucleotide variantPathogenicrs796052127GRCh38Chr 6, 43519782: 43519782
8POLR3BNM_018082.5(POLR3B): c.1612_1614delCTT (p.Leu538del)deletionLikely pathogenicrs797045895GRCh38Chr 12, 106432465: 106432467
9NM_018082.5(POLR3B): c.3173A> G (p.Tyr1058Cys)single nucleotide variantLikely pathogenicrs751459271GRCh37Chr 12, 106897933: 106897933
10POLR3ANM_007055.3(POLR3A): c.2554A> G (p.Met852Val)single nucleotide variantLikely pathogenic, Pathogenicrs267608671GRCh37Chr 10, 79759801: 79759801
11POLR3BNM_018082.5(POLR3B): c.1568T> A (p.Val523Glu)single nucleotide variantLikely pathogenic, Pathogenicrs138249161GRCh37Chr 12, 106826199: 106826199
12POLR3ANM_007055.3(POLR3A): c.2015G> A (p.Gly672Glu)single nucleotide variantPathogenicrs267608670GRCh37Chr 10, 79767519: 79767519
13POLR3ANM_007055.3(POLR3A): c.1909+18G> Asingle nucleotide variantPathogenicrs267608677GRCh37Chr 10, 79769277: 79769277
14POLR3ANM_007055.3(POLR3A): c.2554A> G (p.Met852Val)single nucleotide variantLikely pathogenic, Pathogenicrs267608671GRCh37Chr 10, 79759801: 79759801
15POLR3ANM_007055.3(POLR3A): c.2617-1G> Asingle nucleotide variantPathogenicrs181087667GRCh37Chr 10, 79753126: 79753126
16POLR3ANM_007055.3(POLR3A): c.418C> T (p.Arg140Ter)single nucleotide variantPathogenicrs267608678GRCh37Chr 10, 79784801: 79784801
17POLR3ANM_007055.3(POLR3A): c.2690T> A (p.Ile897Asn)single nucleotide variantPathogenicrs267608681GRCh37Chr 10, 79753052: 79753052
18POLR3ANM_007055.3(POLR3A): c.3013C> T (p.Arg1005Cys)single nucleotide variantPathogenicrs267608682GRCh37Chr 10, 79745719: 79745719
19POLR3BNM_018082.5(POLR3B): c.1857-2A> Csingle nucleotide variantPathogenicrs267608686GRCh37Chr 12, 106831457: 106831457
20POLR3BNM_018082.5(POLR3B): c.2303G> A (p.Arg768His)single nucleotide variantPathogenicrs267608687GRCh37Chr 12, 106850925: 106850925
21POLR3BNM_018082.5(POLR3B): c.1648C> T (p.Arg550Ter)single nucleotide variantPathogenicrs267608688GRCh37Chr 12, 106827517: 106827517
22POLR3BNM_018082.5(POLR3B): c.2778C> G (p.Asp926Glu)single nucleotide variantPathogenicrs267608689GRCh37Chr 12, 106889897: 106889897
23POLR3BNM_018082.5(POLR3B): c.1508C> A (p.Thr503Lys)single nucleotide variantPathogenicrs267608683GRCh37Chr 12, 106826139: 106826139
24POLR3BNM_018082.5(POLR3B): c.1533delT (p.Ile511Metfs)deletionPathogenicrs267608684GRCh37Chr 12, 106826164: 106826164
25POLR3BNM_018082.5(POLR3B): c.1568T> A (p.Val523Glu)single nucleotide variantLikely pathogenic, Pathogenicrs138249161GRCh37Chr 12, 106826199: 106826199
26POLR3BNM_018082.5(POLR3B): c.2686A> T (p.Lys896Ter)single nucleotide variantPathogenicrs267608685GRCh37Chr 12, 106857371: 106857371
27POLR3ANM_007055.3(POLR3A): c.1114G> A (p.Asp372Asn)single nucleotide variantPathogenicrs267608673GRCh37Chr 10, 79781375: 79781375
28POLR3ANM_007055.3(POLR3A): c.1674C> G (p.Phe558Leu)single nucleotide variantPathogenicrs267608668GRCh37Chr 10, 79769718: 79769718
29POLR3ANM_007055.3(POLR3A): c.1907C> A (p.Ser636Tyr)single nucleotide variantPathogenicrs267608676GRCh37Chr 10, 79769297: 79769297
30POLR3ANM_007055.3(POLR3A): c.2171G> A (p.Cys724Tyr)single nucleotide variantPathogenicrs267608679GRCh37Chr 10, 79764550: 79764550
31POLR3ANM_007055.3(POLR3A): c.2324A> T (p.Asn775Ile)single nucleotide variantPathogenicrs267608672GRCh37Chr 10, 79761990: 79761990
32POLR3ANM_007055.3(POLR3A): c.2830G> T (p.Glu944Ter)single nucleotide variantPathogenicrs267608674GRCh37Chr 10, 79750883: 79750883
33POLR3ANM_007055.3(POLR3A): c.3014G> A (p.Arg1005His)single nucleotide variantPathogenicrs200118797GRCh37Chr 10, 79745718: 79745718
34POLR3ANM_007055.3(POLR3A): c.3742_3743insACC (p.Ser1248delinsTyrPro)insertionPathogenicrs267608669GRCh37Chr 10, 79741928: 79741929
35POLR3ANM_007055.3(POLR3A): c.3991G> A (p.Ala1331Thr)single nucleotide variantPathogenicrs267608680GRCh37Chr 10, 79739932: 79739932
36POLR3ANM_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
9.3POLR3A, POLR3B
29.3MECP2, POLR3A
3
Show member pathways
8.5POLR1C, POLR3A, POLR3B
4
Pyrimidine metabolism (KEGG)
Show member pathways
8.5POLR1C, POLR3A, POLR3B
58.5POLR1C, POLR3A, POLR3B
6
Show member pathways
8.5POLR1C, POLR3A, POLR3B
7
Show member pathways
8.5POLR1C, POLR3A, 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
1DNA-directed RNA polymerase III complexGO:00056669.0POLR1C, POLR3A, POLR3B
2cytosolGO:00058298.0MECP2, POLR1C, POLR3A, POLR3B
3nucleoplasmGO:00056547.7MECP2, POLR1C, POLR3A, POLR3B

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interferon-beta productionGO:00327289.9POLR3A, POLR3B
2defense response to virusGO:00516079.7POLR3A, POLR3B
3regulation of gene expression, epigeneticGO:00400299.0MECP2, POLR1C
4transcription from RNA polymerase III promoterGO:00063839.0POLR1C, POLR3A, POLR3B
5transcription elongation from RNA polymerase III promoterGO:00063859.0POLR1C, POLR3A, POLR3B
6termination of RNA polymerase III transcriptionGO:00063869.0POLR1C, POLR3A, POLR3B
7positive regulation of type I interferon productionGO:00324818.9POLR1C, POLR3A, POLR3B
8gene expressionGO:00104678.5POLR1C, POLR3A, POLR3B
9innate immune responseGO:00450878.5POLR1C, POLR3A, POLR3B
10transcription, DNA-templatedGO:00063517.7MECP2, POLR1C, POLR3A, POLR3B

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

idNameGO IDScoreTop Affiliating Genes
1ribonucleoside bindingGO:003254910.0POLR3A, POLR3B
2RNA polymerase III activityGO:00010568.9POLR1C, POLR3A, POLR3B
3DNA-directed RNA polymerase activityGO:00038998.9POLR1C, POLR3A, POLR3B
4DNA bindingGO:00036778.0MECP2, POLR1C, POLR3A, POLR3B

Sources for Pol Iii-Related Leukodystrophies

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet