LO
MCID: PLR009
MIFTS: 38

Pol Iii-Related Leukodystrophies (LO) malady

Categories: Genetic diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Pol Iii-Related Leukodystrophies

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Aliases & Descriptions for Pol Iii-Related Leukodystrophies:

Name: Pol Iii-Related Leukodystrophies 35 24
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 25 68
Pol Iii-Related Leukodystrophy 25 27
4h Syndrome 25 54
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 25
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 68
Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum 25
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome 54
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism 25
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination 25
Pol Iii-Related Hypomyelinating Leukodystrophies 25
Leukodystrophy, Dysmyelinating, with Oligodontia 68
Ataxia, Delayed Dentition, and Hypomyelination 25
 
Tremor-Ataxia with Central Hypomyelination 25
Attention Deficit Hyperactivity Disorder 68
Pol Iii Related Leukodystrophies 24
Leukodystrophy with Oligodontia 25
Dentoleukoencephalopathy 25
Odontoleukodystrophy 25
Pol Iii Disorder 25
Hcahc 25
Hld7 25
Tach 25
Addh 25
Hld8 25
Lo 25

Characteristics:

Orphanet epidemiological data:

54
4h syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy

Classifications:



External Ids:

Orphanet54 ORPHA88637
ICD10 via Orphanet31 G11.1

Summaries for Pol Iii-Related Leukodystrophies

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Genetics Home Reference:25 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 back pain, headache and pain. An important gene associated with Pol Iii-Related Leukodystrophies is POLR3B (RNA Polymerase III Subunit B), and among its related pathways are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Purine metabolism (KEGG). The drugs selegiline and selegiline hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotype Increased shRNA abundance (Z-score > 2).

Related Diseases for Pol Iii-Related Leukodystrophies

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



Diseases related to pol iii-related leukodystrophies

Symptoms & Phenotypes for Pol Iii-Related Leukodystrophies

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Human phenotypes related to Pol Iii-Related Leukodystrophies:

 54 64
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypodontia64 54 Very frequent (99-80%) HP:0000668
2 hypergonadotropic hypogonadism64 54 Very frequent (99-80%) HP:0000815
3 ataxia64 54 Very frequent (99-80%) HP:0001251
4 cns hypomyelination64 54 Very frequent (99-80%) HP:0003429

UMLS symptoms related to Pol Iii-Related Leukodystrophies:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness, ataxia, cerebellar ataxia, muscle spasticity, static tremor, upper motor neuron signs, dysdiadochokinesis

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.4POLR1C, POLR3B

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 Leukodystrophy27
2 Pol Iii-Related Leukodystrophies24 POLR3A, POLR3B

Anatomical Context for Pol Iii-Related Leukodystrophies

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

36
Brain

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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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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.9POLR1C, POLR3A, POLR3B
2
Show member pathways
8.9POLR1C, POLR3A, POLR3B
3
Show member pathways
8.9POLR1C, POLR3A, POLR3B
48.9POLR1C, POLR3A, POLR3B
5
Show member pathways
8.9POLR1C, POLR3A, POLR3B
6
Show member pathways
8.1GNB5, POLR1C, 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:00056668.9POLR1C, POLR3A, POLR3B
2cytosolGO:00058297.9GNB5, MECP2, POLR1C, POLR3A, POLR3B

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

idNameGO IDScoreTop Affiliating Genes
1defense response to virusGO:005160710.3POLR3A, POLR3B
2positive regulation of interferon-beta productionGO:003272810.3POLR3A, POLR3B
3positive regulation of type I interferon productionGO:00324819.6POLR1C, POLR3A, POLR3B
4transcription from RNA polymerase III promoterGO:00063839.6POLR1C, POLR3A, POLR3B
5transcription, DNA-templatedGO:00063518.4MECP2, POLR1C, POLR3A, POLR3B

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

idNameGO IDScoreTop Affiliating Genes
1nucleotidyltransferase activityGO:00167799.8POLR3A, POLR3B
2DNA-directed 5-3 RNA polymerase activityGO:00038999.4POLR1C, POLR3A, POLR3B
3DNA bindingGO:00036778.9MECP2, POLR1C, POLR3A, POLR3B
4RNA polymerase III activityGO:00010568.9POLR1C, POLR3A, POLR3B

Sources for Pol Iii-Related Leukodystrophies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet