LO
MCID: PLR009
MIFTS: 51

Pol Iii-Related Leukodystrophies (LO) malady

Genetic diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Rare diseases categories
Download this MalaCard

Summaries for Pol Iii-Related Leukodystrophies

About this section
Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
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: Pol Iii-Related Leukodystrophies, also known as 4h syndrome, is related to leukodystrophy and leukodystrophy with oligodontia, and has symptoms including anomalies of teeth and dentition, late puberty/hypogonadism/hypogenitalism and ataxia/incoordination/trouble of the equilibrium. 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.

Description from OMIM:47 607694,614381

GeneReviews summary for pol3-leuk

Aliases & Classifications for Pol Iii-Related Leukodystrophies

About this section
Sources:
19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
leukoencephalopathy - ataxia - hypodontia - hypomyelination:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy
leukodystrophy with oligodontia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood
4h syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

pol iii-related leukodystrophies 19 20 22
4h syndrome 21 49 62
leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 21 47
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 21 47
leukodystrophy with oligodontia 21 49
dentoleukoencephalopathy 21 49
odontoleukodystrophy 21 49
hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum 21
hypomyelination - hypogonadotropic hypogonadism - hypodontia 49
leukoencephalopathy - ataxia - hypodontia - hypomyelination 49
hypomyelination, hypodontia, hypogonadotropic hypogonadism 21
leukoencephalopathy-ataxia-hypodontia-hypomyelination 21
leukodystrophy, dysmyelinating, with oligodontia 62
pol iii-related hypomyelinating leukodystrophies 21
ataxia, delayed dentition, and hypomyelination 21
ataxia - delayed dentition - hypomyelination 49
tremor-ataxia with central hypomyelination 21
attention deficit hyperactivity disorder 62
leukodystrophy, hypomyelinating, 7 62
pol iii-related leukodystrophy 21
pol iii disorder 21
hcahc 21
hld7 21
hld8 21
tach 21
addh 21
lo 21


External Ids:

ICD10 via Orphanet26 E75.2, K00.0, E23.0

Related Diseases for Pol Iii-Related Leukodystrophies

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy30.8POLR3A
2leukodystrophy with oligodontia10.2
3boutonneuse fever10.1
4ataxia10.1
5tremor10.1
6hypogonadotropism10.1
7cataract10.1
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

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

607694

Clinical features from OMIM:

607694,614381

Symptoms:

49
  • anomalies of teeth and dentition
  • late puberty/hypogonadism/hypogenitalism
  • ataxia/incoordination/trouble of the equilibrium

Genetic Tests for Pol Iii-Related Leukodystrophies

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
33MalaCards
See all sources

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

33
Brain

Animal Models for Pol Iii-Related Leukodystrophies or affiliated genes

About this section

Publications for Pol Iii-Related Leukodystrophies

About this section
Sources:
52PubMed
See all sources

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

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

64 (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:

1 (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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters
See all sources

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 II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
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

About this section
Sources:
24HMDB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1Thymidine 5'-triphosphate249.1POLR3A, POLR3B
2Adenosine triphosphate24 1110.1POLR3A, POLR3B
3Cytidine triphosphate249.0POLR3A, POLR3B
4Guanosine triphosphate248.8POLR3A, POLR3B

GO Terms for genes affiliated with Pol Iii-Related Leukodystrophies

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pol Iii-Related Leukodystrophies

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet