MCID: PLR009
MIFTS: 37

Pol Iii-Related Leukodystrophies 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 34 23 24
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 25 67
Pol Iii-Related Leukodystrophy 25 26
4h Syndrome 25 53
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 25
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 67
Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum 25
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome 53
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism 25
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination 25
Pol Iii-Related Hypomyelinating Leukodystrophies 25
Leukodystrophy, Dysmyelinating, with Oligodontia 67
Ataxia, Delayed Dentition, and Hypomyelination 25
 
Tremor-Ataxia with Central Hypomyelination 25
Attention Deficit Hyperactivity Disorder 67
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:

53
4h syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy

Classifications:



External Ids:

Orphanet53 ORPHA88637
ICD10 via Orphanet30 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 abnormality of the genital system, abnormality of the teeth and incoordination. An important gene associated with Pol Iii-Related Leukodystrophies is POLR3A (RNA Polymerase III Subunit A), and among its related pathways are Chromatin Regulation / Acetylation and Epstein-Barr virus infection. The drugs desipramine and imipramine have been mentioned in the context of this disorder. Affiliated tissues include brain.

GeneReviews for NBK99167

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 for Pol Iii-Related Leukodystrophies

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Human phenotypes related to Pol Iii-Related Leukodystrophies:

 63 53 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the genital system63 hallmark (90%) HP:0000078
2 abnormality of the teeth63 hallmark (90%) HP:0000164
3 incoordination63 hallmark (90%) HP:0002311
4 hypodontia53 Very frequent (99-80%)
5 hypergonadotropic hypogonadism53 Very frequent (99-80%)
6 ataxia53 Very frequent (99-80%)
7 cns hypomyelination53 Very frequent (99-80%)

UMLS symptoms related to Pol Iii-Related Leukodystrophies:


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

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 Leukodystrophy26
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:

35
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
id Gene Variation Type Significance SNP ID Assembly Location
1MECP2NM_001110792.1(MECP2)indelPathogenicrs786205019GRCh38Chr X, 154030644: 154030664
2GNB5NM_006578.3(GNB5): c.242C> T (p.Ser81Leu)SNVLikely pathogenic, Pathogenicrs761399728GRCh37Chr 15, 52446144: 52446144
346;XY;t(5;15)(q11.2;q24)TranslocationPathogenicChr na, -1: -1

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
19.4MECP2, POLR3A
28.7POLR1C, POLR3A, POLR3B
3
Show member pathways
8.7POLR1C, POLR3A, POLR3B
4
Show member pathways
8.7POLR1C, POLR3A, POLR3B
5
Show member pathways
8.2GNB5, 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:00056669.2POLR1C, POLR3A, POLR3B
2cytosolGO:00058297.5GNB5, MECP2, POLR1C, POLR3A, POLR3B

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of interferon-beta productionGO:00327289.6POLR3A, POLR3B
2defense response to virusGO:00516079.5POLR3A, POLR3B
3transcription from RNA polymerase III promoterGO:00063839.0POLR1C, POLR3A, POLR3B
4positive regulation of type I interferon productionGO:00324818.4POLR1C, POLR3A, POLR3B

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

idNameGO IDScoreTop Affiliating Genes
1DNA-directed RNA polymerase activityGO:00038999.7POLR1C, POLR3A
2RNA polymerase III activityGO:00010569.2POLR1C, POLR3A, POLR3B
3DNA bindingGO:00036778.1MECP2, POLR1C, POLR3A, POLR3B

Sources for Pol Iii-Related Leukodystrophies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet