Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism (HLD7)

Alias:
4h Syndrome
Pol Iii-Related Leukodystrophy
Hld7
Addh
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia, Delayed Dentition, and Hypomyelination
Tremor-Ataxia with Central Hypomyelination
Leukodystrophy with Oligodontia
4h Leukodystrophy 1
Tach
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism
Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism 4h Syndrome
Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum
Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome
Leukoencephalopathy, Hypomyelinating, with Ataxia and Delayed Dentition
Leukoencephalopathy Hypomyelinating with Ataxia and Delayed Dentition
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism
Ribonucleic Acid Polymerase Iii-Related Leukodystrophy
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination
Ataxia-Delayed Dentition-Hypomyelination Syndrome
Pol Iii-Related Hypomyelinating Leukodystrophies
Leukodystrophy, Dysmyelinating, with Oligodontia
Ataxia Delayed Dentition and Hypomyelination
Attention Deficit Hyperactivity Disorder
Leukodystrophy, Hypomyelinating, Type 7
Dentoleukoencephalopathy
Odontoleukodystrophy
Pol Iii Disorder
Hcahc
Hld8
Lo
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism, also known as 4h syndrome, is related to leukodystrophy, hypomyelinating, 6 and hypogonadism, and has symptoms including back pain, headache and pain. An important gene associated with Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism is POLR3A (RNA Polymerase III Subunit A), and among its related pathways/superpathways are RNA Polymerase III Transcription Initiation and Cytosolic sensors of pathogen-associated DNA. The drugs Metamfetamine and Histamine have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are ataxia and hypodontia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
3
19
23

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Status
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No data available

Disease Model

Category
Name
MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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IF
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