Fatty acid hydroxylase-associated neurodegeneration
Synonyms: FAHN
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fatty acid hydroxylase-associated neurodegeneration | FAHN |
| fr | Neurodégénérescence associée à FA2H | FAHN · Neurodégénérescence associée à l'hydroxylase des acides gras |
| de | Fettsäure-Hydroxylase-assoziierte Neurodegeneration | = en |
| es | Neurodegeneración asociada a hidroxilasa de ácidos grasos | = en |
| it | Neurodegenerazione associata a idrossilasi degli acidi grassi | = en |
| nl | Neurodegeneratie geassocieerd met vetzuurhydroxylase | = en |
| pt | Neurodegenerescência associada à hidroxilase dos ácidos gordos | |
| pl | Neurodegeneracja związana z hydroksylazą kwasów tłuszczowych | = en |
| cs | Neurodegenerace asociovaná s hydroxylázou mastných kyselin | = en |
| uk | Нейродегенерація, асоційована з гідроксилазою жирних кислот | = en |
| zh | 常染色体隐性遗传痉挛性截瘫35 | = en |
| tr | Yağ asidi hidroksilaz -ilişkili nörodejenerasyon | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612319 | NTBT | validated | |
| ICD-10 | G23.0 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | index | validated |
| MONDO | 0017999 | E | validated | |
| MeSH | C580102 | E | validated | |
| UMLS | C3668943 | E | validated | |
| GARD | 10810 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:352306Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:385Neurodegeneration with brain iron accumulation
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FA2H | Disease-causing germline mutation(s) in | Assessed | HGNC:21197 | ENSG00000103089 | 611026 | 16q23.1 | fatty acid 2-hydroxylase | 20853438[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21735565[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
31 annotations · validated 2018-12-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002527 | Falls | |
| HP:0001268 | Mental deterioration | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0007020 | Progressive spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0002425 | Anarthria | |
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0030584 | Color vision test abnormality | |
| HP:0001260 | Dysarthria | |
| HP:0007325 | Generalized dystonia | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002505 | Loss of ambulation | |
| HP:0002427 | Motor aphasia | |
| HP:0000648 | Optic atrophy | |
| HP:0007153 | Progressive extrapyramidal movement disorder | |
| HP:0007199 | Progressive spastic paraparesis | |
| HP:0002478 | Progressive spastic quadriplegia | |
| HP:0007924 | Slow decrease in visual acuity | |
| HP:0000605 | Supranuclear gaze palsy | |
| HP:0002493 | Upper motor neuron dysfunction | |
| HP:0001123 | Visual field defect | |
| Occasional (29-5%) | ||
| HP:0007359 | Focal-onset seizure | |
| HP:0000486 | Strabismus | |
| Very rare (<4-1%) | ||
| HP:0000739 | Anxiety | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0000716 | Depression | |
| HP:0002015 | Dysphagia | |
| HP:0009830 | Peripheral neuropathy | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20853438[PMID]_21735565[PMID]_22146942[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329308
- This record as JSON: /data/d/329308.json