MCID: PLR009
MIFTS: 39

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 33 22 23
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 24 66
Pol Iii-Related Leukodystrophy 24 25
4h Syndrome 24 52
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 24
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 66
Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum 24
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome 52
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism 24
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination 24
Pol Iii-Related Hypomyelinating Leukodystrophies 24
Leukodystrophy, Dysmyelinating, with Oligodontia 66
Ataxia, Delayed Dentition, and Hypomyelination 24
 
Tremor-Ataxia with Central Hypomyelination 24
Attention Deficit Hyperactivity Disorder 66
Pol Iii Related Leukodystrophies 23
Leukodystrophy with Oligodontia 24
Dentoleukoencephalopathy 24
Odontoleukodystrophy 24
Pol Iii Disorder 24
Hcahc 24
Tach 24
Hld8 24
Addh 24
Hld7 24
Lo 24

Characteristics:

Orphanet epidemiological data:

52
4h syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy

Classifications:



External Ids:

Orphanet52 ORPHA88637
ICD10 via Orphanet29 G11.1

Summaries for Pol Iii-Related Leukodystrophies

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Genetics Home Reference:24 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 POLR3B (RNA Polymerase III Subunit B), and among its related pathways are Chromatin Regulation / Acetylation and Pyrimidine metabolism (KEGG). The drugs amphetamine and clonidine have been mentioned in the context of this disorder. Affiliated tissues include brain.

GeneReviews summary 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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Symptoms:

 52
  • hypodontia
  • hypergonadotropic hypogonadism
  • ataxia
  • cns hypomyelination

HPO human phenotypes related to Pol Iii-Related Leukodystrophies:

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

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 Leukodystrophy25
2 Pol Iii-Related Leukodystrophies23 POLR3A, POLR3B

Anatomical Context for Pol Iii-Related Leukodystrophies

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

34
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)indelPathogenicrs786205019GRCh37Chr X, 153296095: 153296115

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
19.0MECP2, POLR3A
2
Show member pathways
8.8POLR1C, POLR3A, POLR3B
3
Show member pathways
8.8POLR1C, POLR3A, POLR3B
4
Show member pathways
8.8POLR1C, POLR3A, POLR3B
58.8POLR1C, 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:00056669.4POLR1C, POLR3A, POLR3B
2cytosolGO:00058298.0MECP2, 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:00327289.4POLR3A, POLR3B
2defense response to virusGO:00516079.3POLR3A, POLR3B
3transcription from RNA polymerase III promoterGO:00063839.2POLR1C, POLR3A, POLR3B
4positive regulation of type I interferon productionGO:00324818.5POLR1C, 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:00038999.8POLR1C, POLR3A
2RNA polymerase III activityGO:00010569.3POLR1C, POLR3A, POLR3B
3DNA bindingGO:00036778.0MECP2, POLR1C, POLR3A, POLR3B

Sources for Pol Iii-Related Leukodystrophies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet