ORPHA:496790
Ocular anomalies-axonal neuropathy-developmental delay syndrome
Synonyms: Harel-Yoon syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ocular anomalies-axonal neuropathy-developmental delay syndrome | Harel-Yoon syndrome |
| fr | Syndrome d'anomalies oculaires-neuropathie axonale-retard de développement | Syndrome de Harel-Yoon |
| de | Optikusatrophie-periphere Neuropathie-Entwicklungsverzögerung-Syndrom | Harel-Yoon-Syndrom |
| es | Síndrome de anomalías oculares-neuropatía axonal-retraso del desarrollo | Síndrome de Harel-Yoon |
| it | Sindrome anomalie oculari-neuropatia assonale-ritardo dello sviluppo | |
| nl | Oculaire anomalieën - axonale neuropathie - ontwikkelingsachterstand-syndroom | Syndroom van Harel-Yoon |
| pt | Síndrome de atrofia óptica-neuropatia periférica-perturbação do desenvolvimento | Síndrome Harel-Yoon |
| pl | Zespół wad oczu, neuropatii aksonalnej i opóźnienia rozwoju | Zespół Harel i Yoona |
| cs | Syndrom zahrnující atrofii optiků, periferní neuropatii a vývojové opoždění | Harel-Yoon syndrome · Harel-Yoonův syndrom |
| uk | Синдром аномалій очей-аксональної нейропатії-затримки розвитку | Синдром Харела-Юна |
| zh | 眼部异常-轴突神经疾病-发育迟缓综合征 | Harel-Yoon综合征 |
| tr | Oküler anomaliler-aksonal nöropati-gelişme geriliği sendromu | Harel-Yoon sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617183 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5D0Y | NTBT | attributed | validated |
| MONDO | 0014958 | E | validated | |
| UMLS | C4310677 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:217587Mitochondrial disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders - ORPHA:254837Unspecified mitochondrial disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATAD3A | Disease-causing germline mutation(s) in | Assessed | HGNC:25567 | ENSG00000197785 | 612316 | 1p36.33 | ATPase family AAA domain containing 3A | 27640307[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 27640307[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27640307[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.
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HPO phenotypes
36 annotations · validated 2019-02-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0002465 | Poor speech | |
| HP:0002064 | Spastic gait | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | |
| HP:0000518 | Cataract | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000490 | Deeply set eye | |
| HP:0000823 | Delayed puberty | |
| HP:0000565 | Esotropia | |
| HP:0011968 | Feeding difficulties | |
| HP:0002066 | Gait ataxia | |
| HP:0000348 | High forehead | |
| HP:0001385 | Hip dysplasia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0000276 | Long face | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000768 | Pectus carinatum | |
| HP:0005656 | Positional foot deformity | |
| HP:0002650 | Scoliosis | |
| HP:0003196 | Short nose | |
| HP:0002360 | Sleep abnormality | |
| HP:0000582 | Upslanted palpebral fissure | |
| Very rare (<4-1%) | ||
| HP:0007957 | Corneal opacity | |
| HP:0001250 | Seizure | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 27640307[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/496790
- This record as JSON: /data/d/496790.json