Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

Preferred Label : Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;

Symbol : HLD7;

CISMeF acronym : HLD7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ADDH; Leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition; Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism; Ataxia, delayed dentition, and hypomyelination; 4h syndrome; 4h leukodystrophy 1;

Description : Hypomyelinating leukodystrophy-7 is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability (summary by Bernard et al., 2011). See also HLD8 (614381), which has similar features and is caused by mutation in the POLR3B gene (614366) on chromosome 12q23. The POLR3A and;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RNA polymerase III, subunit A gene (POLR3A, 614258.0001);

Prefixed ID : #607694;

Details

Origin ID

607694;

UMLS CUI

C2676243;

Automatic exact mappings (from CISMeF team)
- attention deficit disorder with hyperactivity [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome [ORDO Disease]
- Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) [SNOMED CT concept]
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome [ORDO Disease]
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome [ORDO Disease]
- Odontoleukodystrophy [ORDO Disease]
- hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]
- leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism [MeSH Supplementary Concept]
- leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism [MeSH concept]
DO Cross reference
- hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]
Genes related to phenotype
- Polymerase III, rna, subunit a [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Abnormal upper motor neuron morphology [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- CNS hypomyelination [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Delayed puberty [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypodontia [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Leukodystrophy [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Oligodontia [HPO term]
- Optic atrophy [HPO term]
- Peripheral neuropathy [HPO term]
- Postural tremor [HPO term]
- Progressive [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
Manual NTBT mappings (CISMeF)
- 4H leukodystrophy [ORDO Disease]
ORDO concept(s)
- Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome [ORDO Disease]
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome [ORDO Disease]
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome [ORDO Disease]
- Odontoleukodystrophy [ORDO Disease]
- Tremor-ataxia-central hypomyelination syndrome [ORDO Disease]
See also inter- (CISMeF)
- Hypomyelinating Leukodystrophy-8 [NCIt concept]
- Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome [ORDO Disease]
- Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) [SNOMED CT concept]
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome [ORDO Disease]
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome [ORDO Disease]
- hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]
- leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism [MeSH Supplementary Concept]
- leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism [MeSH concept]

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