Information on HAYOS
Name: Harel-Yoon syndrome | Acronym: HAYOS
Alt. names: ATAD3 deficiency
Gene: ATAD3A | MOI: Autosomal inheritance | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2016
Last updated on: 2023-02-28 16:41:18 by
Description
It is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016)[OMIM]
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Muscular hypotonia |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Global developmental delay |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Intellectual disability |
6 (85.7%) | 0 (0.0%) | 1 (14.3%) |
| 4 | Peripheral axonal neuropathy |
5 (71.4%) | 0 (0.0%) | 2 (28.6%) |
| 5 | Spasticity |
5 (62.5%) | 0 (0.0%) | 3 (37.5%) |
| 6 | Increased serum lactate |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 7 | Myopia |
4 (50.0%) | 0 (0.0%) | 4 (50.0%) |
| 8 | Cerebellar atrophy |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 9 | Delayed speech and language development |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 10 | Esotropia |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 11 | Feeding difficulties |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 12 | Hypertrophic cardiomyopathy |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 13 | Optic atrophy |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 14 | Deeply set eye |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 15 | Congenital cataract |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 16 | Absence seizures |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 17 | High forehead |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 18 | Long face |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 19 | Mandibular prognathia |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 20 | Micrognathia |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 21 | Pectus carinatum |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 22 | Reduced brain N-acetyl aspartate level by MRS |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 23 | Corneal opacity |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 24 | Distal amyotrophy |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 25 | Dystonia |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 26 | Frontal bossing |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 27 | Hip dysplasia |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 28 | Nystagmus |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 29 | Scoliosis |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 30 | Short nose |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 31 | Talipes equinovalgus |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 32 | Upslanted palpebral fissure |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
Age of onset
distribution
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).