Ataxia-telangiectasia-like disorder
Synonyms: ATLD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ataxia-telangiectasia-like disorder | ATLD |
| fr | Ataxie-télangiectasie-like | = en |
| de | Ataxia-Teleangiectasia-ähnliche Krankheit | = en |
| es | Trastorno similar a la ataxia-telangiectasia | ATLD · Ataxia-telangiectasia-like |
| it | Malattia simil-atassia-telangectasia | = en |
| nl | Ataxie-teleangiëctasie-achtige aandoening | = en |
| pt | Doença ataxia-telangectasia-like | = en |
| pl | Zaburzenie podobne do ataksji-telangiektazji | = en |
| cs | Porucha podobná ataxia teleangiektasia | = en |
| uk | Атаксія-телеангіектазія-подібний розлад | = en |
| zh | 毛细血管共济失调性扩张症样紊乱症 | = en |
| tr | Ataksi-telenjiektazi-benzeri bozukluk | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604391 | E | validated | |
| ICD-10 | G11.3 | NTBT | attributed | validated |
| ICD-11 | 4A01.31 | NTBT | index | validated |
| MONDO | 0024557 | E | validated | |
| MeSH | C565779 | E | validated | |
| UMLS | C1858391 | 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 (5):
- ORPHA:98097Autosomal recessive cerebellar ataxia due to a DNA repair defect
rare genetic diseases; rare neurological diseases - ORPHA:252190Inherited nervous system cancer-predisposing syndrome
rare neurological diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:79379Skin vascular disease
rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MRE11 | Disease-causing germline mutation(s) in | Assessed | HGNC:7230 | ENSG00000020922 | 600814 | 11q21 | MRE11 double strand break repair nuclease | 10612394[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
34 annotations · validated 2018-05-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| Frequent (79-30%) | ||
| HP:0003438 | Absent Achilles reflex | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0002072 | Chorea | |
| HP:0002198 | Dilated fourth ventricle | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0001332 | Dystonia | |
| HP:0100953 | Enlarged interhemispheric fissure | |
| HP:0002066 | Gait ataxia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002080 | Intention tremor | |
| HP:0000298 | Mask-like facies | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0000514 | Slow saccadic eye movements | |
| Occasional (29-5%) | ||
| HP:0000617 | Abnormality of ocular smooth pursuit | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002307 | Drooling | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0000641 | Dysmetric saccades | |
| HP:0002359 | Frequent falls | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0001382 | Joint hypermobility | |
| HP:0001336 | Myoclonus | |
| HP:0001761 | Pes cavus | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0040010 | Small posterior fossa | |
| HP:0010544 | Vertical nystagmus | |
| Very rare (<4-1%) | ||
| HP:0004322 | Short stature | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 8445618[PMID]_15269180[PMID]_15574463[PMID]_22863007[PMID]_29170652[PMID]_24733832[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251347
- This record as JSON: /data/d/251347.json