LO
MCID: PLR009
MIFTS: 42

Pol Iii-Related Leukodystrophies (LO) malady

Neuronal, Endocrine categories

Summaries for Pol Iii-Related Leukodystrophies

Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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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: Pol Iii-Related Leukodystrophies, also known as 4h syndrome, is related to attention deficit hyperactivity disorder and conduct disorder, 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 Immune System and Generic Transcription Pathway. The drugs selegiline and selegiline hydrochloride and the compound Adenosine triphosphate have been mentioned in the context of this disorder.

Description from OMIM:47 607694,614381

GeneReviews summary for pol3-leuk

Aliases & Classifications for Pol Iii-Related Leukodystrophies

Sources:
19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Endocrine


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: Adolescence / Young adulthood


Aliases & Descriptions:

pol iii-related leukodystrophies 19 20 22
4h syndrome 21 49 61
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 61
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 61
leukodystrophy, hypomyelinating, 7 61
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

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pol Iii-Related Leukodystrophies:



Diseases related to pol iii-related leukodystrophies

Clinical Features for Pol Iii-Related Leukodystrophies

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

607694,614381

Clinical synopsis from OMIM:

607694

Symptoms:

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

Drugs & Therapeutics for Pol Iii-Related Leukodystrophies

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Genetic Tests for Pol Iii-Related Leukodystrophies

Sources:
20GeneTests, 22GTR
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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

Animal Models for Pol Iii-Related Leukodystrophies or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Pol Iii-Related Leukodystrophies

Genetic Variations for Pol Iii-Related Leukodystrophies

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Pol Iii-Related Leukodystrophies:

63 (show all 13)
id Symbol AA change Variation 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

Expression for genes affiliated with Pol Iii-Related Leukodystrophies

Sources:
1BioGPS, 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

Sources:
54Reactome, 30KEGG, 12EMD Millipore
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Compounds for genes affiliated with Pol Iii-Related Leukodystrophies

Sources:
11DrugBank, 24HMDB
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Compounds related to Pol Iii-Related Leukodystrophies according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Adenosine triphosphate11 2410.1POLR3B, POLR3A

GO Terms for genes affiliated with Pol Iii-Related Leukodystrophies

Sources:
16Gene Ontology
See all sources

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

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

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

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase III activityGO:0010569.1POLR3B, POLR3A
2ribonucleoside bindingGO:0325498.8POLR3B, POLR3A

Products for genes affiliated with Pol Iii-Related Leukodystrophies

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pol Iii-Related Leukodystrophies

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet