ORPHA:100
Ataxia-telangiectasia
Synonyms: Louis-Bar syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ataxia-telangiectasia | Louis-Bar syndrome |
| fr | Ataxie-télangiectasie | Syndrome de Louis-Bar |
| de | Ataxia-Teleangiectasia | Louis-Bar-Syndrom |
| es | Ataxia-telangiectasia | |
| it | Atassia - telangectasia | Sindrome di Louis-Bar |
| nl | Ataxie-teleangiëctasie | Syndroom van Louis-Bar |
| pt | Ataxia-telangiectasia | Síndrome Louis-Bar |
| pl | Ataksja-teleangiektazja | Zespół Louisa i Bara |
| cs | Ataxia telangiectasia | Syndrom Louis-Barové |
| uk | Атаксія-телеангіектазія | Синдром Луї-Бара |
| zh | 毛细血管扩张性共济失调 | Louis-Bar综合征 |
| tr | Ataksi-telenjiektazi | Louis-Bar sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208900 | BTNT | validated | |
| OMIM | 208910 | NTBT | validated | |
| ICD-10 | G11.3 | NTBT | inclusion | validated |
| ICD-11 | 4A01.31 | NTBT | index | validated |
| MONDO | 0008840 | E | validated | |
| MeSH | D001260 | E | validated | |
| UMLS | C0004135 | E | validated | |
| GARD | 5862 | E | validated | |
| MedDRA | 10003594 | 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 (15):
- ORPHA:98097Autosomal recessive cerebellar ataxia due to a DNA repair defect
rare genetic diseases; rare neurological diseases - ORPHA:169346DNA repair defect other than combined T-cell and B-cell immunodeficiencies
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:252190Inherited nervous system cancer-predisposing syndrome
rare neurological diseases - ORPHA:166466Neurocutaneous syndrome with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:519341Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare ophthalmic disorders - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare genetic diseases - ORPHA:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric 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 - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATM | Disease-causing germline mutation(s) in | Assessed | HGNC:795 | ENSG00000149311 | 607585 | 11q22.3 | ATM serine/threonine kinase | 20301790[PMID] |
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Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | Norway | Value and class | Validated | 19339254[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.4 / 100 000 | Norway | Value and class | Validated | 19339254[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | United States | Value and class | Validated | 20301790[PMID]_21569628[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.49 / 100 000 | Europe | Value and class | Validated | ORPHANET_19339254[PMID]_23609960[PMID]_19440741[PMID]_1512613[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.25 / 100 000 | United Kingdom | Value and class | Not yet validated | Ataxia Telangiectasia Society 2014[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | Portugal | Value and class | Validated | 23609960[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.25 / 100 000 | France | Value and class | Validated | 19440741[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.19 / 100 000 | Italy | Value and class | Validated | 1512613[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
37 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003220 | Abnormality of chromosome stability | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0100022 | Abnormality of movement | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002715 | Abnormality of the immune system | |
| HP:0010515 | Aplasia/Hypoplasia of the thymus | |
| HP:0001251 | Ataxia | |
| HP:0005374 | Cellular immunodeficiency | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0000823 | Delayed puberty | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001288 | Gait disturbance | |
| HP:0002721 | Immunodeficiency | |
| HP:0001888 | Lymphopenia | |
| HP:0100579 | Mucosal telangiectasiae | |
| HP:0000639 | Nystagmus | |
| HP:0000147 | Polycystic ovaries | |
| HP:0002216 | Premature graying of hair | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000486 | Strabismus | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0001337 | Tremor | |
| Frequent (79-30%) | ||
| HP:0000819 | Diabetes mellitus | |
| HP:0001260 | Dysarthria | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0002664 | Neoplasm | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0000035 | Abnormal testis morphology | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0100543 | Cognitive impairment | |
| HP:0001508 | Failure to thrive | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0005978 | Type II diabetes mellitus | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100
- This record as JSON: /data/d/100.json