Odontoleukodystrophy
General Information (adopted from Orphanet):
Synonyms, Signs: |
ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION LEUKODYSTROPHY, HYPOMYELINATING, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM 4H SYNDROME LEUKOENCEPHALOPATHY, HYPOMYELINATING, WITH ATAXIA AND DELAYED DENTITION HLD7 ADDH Leukodystrophy with oligodontia Dentoleukoencephalopathy |
Number of Symptoms | 32 |
OrphanetNr: | 77295 |
OMIM Id: |
607694
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ICD-10: |
E75.2 K00.0 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 4 cases [Orphanet] |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000044) | Hypogonadotrophic hypogonadism | 56 / 7739 | ||||
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(HPO:0000677) | Oligodontia | 41 / 7739 | ||||
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(HPO:0002307) | Drooling | 43 / 7739 | ||||
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(HPO:0000668) | Hypodontia | 81 / 7739 | ||||
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(HPO:0000617) | Abnormality of ocular smooth pursuit | 6 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0002384) | Focal seizures with impairment of consciousness or awareness | 17 / 7739 | ||||
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(HPO:0003477) | Peripheral axonal neuropathy | 62 / 7739 | ||||
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0002174) | Postural tremor | 22 / 7739 | ||||
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(HPO:0002127) | Abnormal upper motor neuron morphology | 15 / 7739 | ||||
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(HPO:0009830) | Peripheral neuropathy | 206 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0007178) | Motor polyneuropathy | 31 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0001310) | Dysmetria | 76 / 7739 | ||||
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(MedDRA:10069632) | Bladder dysfunction | 3 / 7739 | ||||
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(OMIM) | Motor regression | 3 / 7739 | ||||
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(HPO:0002079) | Hypoplasia of the corpus callosum | 161 / 7739 | ||||
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(HPO:0001317) | Abnormality of the cerebellum | 36 / 7739 | ||||
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(HPO:0003429) | CNS hypomyelination | 21 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(OMIM) | Cognitive regression, mild | 2 / 7739 | ||||
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(HPO:0002415) | Leukodystrophy | 30 / 7739 | ||||
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(HPO:0002120) | Cerebral cortical atrophy | 187 / 7739 | ||||
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(OMIM) | Developmental delay, mild | 8 / 7739 | ||||
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(OMIM) | Vertical gaze limitation | 2 / 7739 | ||||
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(OMIM) | Decreased vibratory and positional sense (some patients) | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
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 ... |
Clinical Description OMIM |
In an inbred Syrian pedigree, Atrouni et al. (2003) described oligodontia in association with a degenerative neurologic condition characterized by progressive ataxia and pyramidal syndrome. Age at onset was about 12 years. Abnormalities in the white matter and ... |
Molecular genetics OMIM |
By narrowing the candidate disease locus followed by direct sequencing of the genes in the refined 2.99-Mb interval in several families with hypomyelinating leukodystrophy mapping to chromosome 10q22, Bernard et al. (2011) identified 14 different mutations in the ... |