ORPHA:1187
Lethal ataxia with deafness and optic atrophy
Synonyms: Arts syndrome · Lethal ataxia with hearing loss and optic atrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal ataxia with deafness and optic atrophy | Arts syndrome · Lethal ataxia with hearing loss and optic atrophy |
| fr | Syndrome d'ataxie-surdité-atrophie optique-létalité | Syndrome d'Arts |
| de | Letale Ataxie mit Schwerhörigkeit und Optikusatrophie | Arts-Syndrom |
| es | Ataxia letal con sordera y atrofia óptica | Ataxia letal con hipoacusia y atrofia óptica |
| it | Atassia - atrofia ottica - sordità - letalità | Sindrome di Arts |
| nl | Letale ataxie met doofheid en opticusatrofie | Letale ataxie met gehoorverlies en opticusatrofie · Syndroom van Arts |
| pt | Ataxia letal com surdez e atrofia óptica | Ataxia letal com perda auditiva e atrofia óptica · Síndrome Arts |
| pl | Śmiertelna ataksja z głuchotą i atrofią nerwu wzrokowego | Zespół Artsa |
| cs | Letální ataxie s hluchotou a atrofií optiku | Artsův syndrom |
| uk | Летальна атаксія з глухотою та атрофією зорового нерва | Синдром Артса · Летальна атаксія з втратою слуху та атрофією зорового нерва |
| zh | 致死性共济失调伴耳聋和视神经萎缩 | 致死性共济失调伴耳聋和视神经萎缩 |
| tr | Sağırlık ve optik atrofi ile letal ataksi | Sanat sendromu · İşitme kaybı ve optik atrofi ile seyreden letal ataksi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301835 | E | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0010533 | E | validated | |
| MeSH | C535388 | E | validated | |
| UMLS | C0796028 | E | validated | |
| GARD | 8756 | 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 (5):
- ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:247765X-linked cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRPS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9462 | ENSG00000147224 | 311850 | Xq22.3 | phosphoribosyl pyrophosphate synthetase 1 | 20301738[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 27256512[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27256512[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
30 annotations · validated 2020-05-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030272 | Abnormal erythrocyte enzyme activity | |
| HP:0007377 | Abnormality of somatosensory evoked potentials | |
| HP:0000618 | Blindness | |
| HP:0008527 | Congenital sensorineural hearing impairment | |
| HP:0003431 | Decreased motor nerve conduction velocity | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0001324 | Muscle weakness | |
| HP:0002300 | Mutism | |
| HP:0000648 | Optic atrophy | |
| HP:0002719 | Recurrent infections | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0007258 | Severe demyelination of the white matter | |
| HP:0032169 | Severe infection | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0012389 | Appendicular hypotonia | |
| HP:0001284 | Areflexia | |
| HP:0001251 | Ataxia | |
| HP:0008936 | Axial hypotonia | |
| HP:0011185 | EEG with focal epileptiform discharges | |
| HP:0003537 | Hypouricemia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001270 | Motor delay | |
| HP:0000467 | Neck muscle weakness | |
| HP:0000639 | Nystagmus | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0011476 | Profound sensorineural hearing impairment | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0008311 | Spinal cord posterior columns myelin loss | |
| HP:0002445 | Tetraplegia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 8498830[PMID]_20301738[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1187
- This record as JSON: /data/d/1187.json