LO
MCID: PLR009
MIFTS: 53

Pol Iii-Related Leukodystrophies (LO) malady

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

Summaries for Pol Iii-Related Leukodystrophies

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OMIM:46 Hypomyelinating leukodystrophy-7 is an autosomal recessive neurodegenerative disorder characterized by childhood onset... (607694) more...

MalaCards based summary: Pol Iii-Related Leukodystrophies, also known as dentoleukoencephalopathy, is related to leukodystrophy and leukodystrophy with oligodontia, 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.

Genetics Home Reference:22 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.

Description from OMIM:46 614381

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 31 20 21 23
Dentoleukoencephalopathy 22 48 61
4h Syndrome 22 48 61
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 22 46
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 22 46
Leukodystrophy with Oligodontia 22 48
Odontoleukodystrophy 22 48
Hld8 22 61
Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum 22
Hypomyelination - Hypogonadotropic Hypogonadism - Hypodontia 48
Leukoencephalopathy - Ataxia - Hypodontia - Hypomyelination 48
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism 22
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination 22
 
Pol Iii-Related Hypomyelinating Leukodystrophies 22
Ataxia, Delayed Dentition, and Hypomyelination 22
Ataxia - Delayed Dentition - Hypomyelination 48
Tremor-Ataxia with Central Hypomyelination 22
Attention Deficit Hyperactivity Disorder 61
Leukodystrophy, Hypomyelinating, 7 61
Pol Iii-Related Leukodystrophy 22
Pol Iii Disorder 22
Hcahc 22
Addh 22
Hld7 22
Tach 22
Lo 22


Classifications:



Characteristics (Orphanet epidemiological data):

48
leukoencephalopathy - ataxia - hypodontia - hypomyelination:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy
dentoleukoencephalopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood
4h syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

ICD10 via Orphanet27 E75.2, G11.1

Related Diseases for Pol Iii-Related Leukodystrophies

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

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy31.0POLR3A
2leukodystrophy with oligodontia10.2
3boutonneuse fever10.2
4ataxia10.2
5tremor10.2
6cataract10.1
7hypogonadotropism10.1
8hypogonadism10.1
9growth hormone deficiency10.1
10pelizaeus-merzbacher disease10.1
11african tick-bite fever10.0
12dystonia10.0
13meningitis10.0
14spotted fever10.0
15neonatal meningitis10.0
16pityriasis rotunda10.0
17endotheliitis10.0
18mediterranean spotted fever10.0

Graphical network of 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 by clinical synopsis from OMIM:

607694

Clinical features from OMIM:

607694,614381

Symptoms:

 48
  • anomalies of teeth and dentition
  • late puberty/hypogonadism/hypogenitalism
  • ataxia/incoordination/trouble of the equilibrium

HPO human phenotypes related to Pol Iii-Related Leukodystrophies:

(show all 31)
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
4 nystagmus rare (5%) HP:0000639
5 optic atrophy rare (5%) HP:0000648
6 peripheral neuropathy rare (5%) HP:0009830
7 autosomal recessive inheritance HP:0000007
8 hypogonadotrophic hypogonadism HP:0000044
9 hypodontia HP:0000668
10 oligodontia HP:0000677
11 spasticity HP:0001257
12 dysarthria HP:0001260
13 cerebellar atrophy HP:0001272
14 dysmetria HP:0001310
15 hyperreflexia HP:0001347
16 dysphagia HP:0002015
17 hypoplasia of the corpus callosum HP:0002079
18 cerebral cortical atrophy HP:0002120
19 upper motor neuron abnormality HP:0002127
20 postural tremor HP:0002174
21 drooling HP:0002307
22 leukodystrophy HP:0002415
23 cns hypomyelination HP:0003429
24 babinski sign HP:0003487
25 progressive disorder HP:0003676
26 phenotypic variability HP:0003812
27 horizontal nystagmus HP:0000666
28 impaired horizontal smooth pursuit HP:0001151
29 intellectual disability, mild HP:0001256
30 intention tremor HP:0002080
31 cerebral hypomyelination HP:0006808

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 Leukodystrophies21 POLR3A, POLR3B
2 Pol Iii-Related Leukodystrophy23

Anatomical Context for Pol Iii-Related Leukodystrophies

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

32
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
Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies. (24105487)
2014
2
Pol III-Related Leukodystrophies (22855961)
1993

Variations for Pol Iii-Related Leukodystrophies

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UniProtKB/Swiss-Prot genetic disease variations for Pol Iii-Related Leukodystrophies:

63 (show all 13)
id Symbol AA change Variation ID SNP ID
1POLR3Ap.Asp372AsnVAR_066516
2POLR3Ap.Phe558LeuVAR_066517
3POLR3Ap.Ser636TyrVAR_066518
4POLR3Ap.Gly672GluVAR_066519
5POLR3Ap.Cys724TyrVAR_066520
6POLR3Ap.Asn775IleVAR_066521
7POLR3Ap.Met852ValVAR_066522
8POLR3Ap.Arg1005CysVAR_066523
9POLR3Ap.Ile897AsnVAR_067004
10POLR3Bp.Thr503LysVAR_067005
11POLR3Bp.Val523GluVAR_067006
12POLR3Bp.Arg768HisVAR_067008
13POLR3Bp.Asp926GluVAR_067009

Clinvar genetic disease variations for Pol Iii-Related Leukodystrophies:

7 (show all 25)
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Pol Iii-Related Leukodystrophies

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/GeneDecks:

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 II37
ATP ITP metabolism59
purine deoxyribonucleosides salvage37
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/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Thymidine 5'-triphosphate259.1POLR3A, POLR3B
2Adenosine triphosphate25 1210.1POLR3A, POLR3B
3Cytidine triphosphate259.0POLR3A, POLR3B
4Guanosine triphosphate258.8POLR3A, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056549.1POLR3A, POLR3B
2DNA-directed RNA polymerase III complexGO:0056668.8POLR3A, POLR3B

Biological processes related to Pol Iii-Related Leukodystrophies according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1transcription elongation from RNA polymerase III promoterGO:0063859.3POLR3A, POLR3B
2termination of RNA polymerase III transcriptionGO:0063869.3POLR3A, POLR3B
3positive regulation of interferon-beta productionGO:0327289.2POLR3A, POLR3B
4transcription from RNA polymerase III promoterGO:0063839.2POLR3A, POLR3B
5positive regulation of type I interferon productionGO:0324819.1POLR3B, POLR3A
6gene expressionGO:0104679.1POLR3A, POLR3B
7defense response to virusGO:0516079.0POLR3A, POLR3B
8innate immune responseGO:0450878.8POLR3A, POLR3B

Molecular functions related to Pol Iii-Related Leukodystrophies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metal ion bindingGO:0468729.1POLR3A, POLR3B
2RNA polymerase III activityGO:0010569.0POLR3A, POLR3B
3DNA bindingGO:0036778.8POLR3A, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet