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Ataxia-telangiectasia
2 OMIM references -
1 associated gene
90 connected diseases
39 signs/symptoms
Disease Type of connection
B-cell chronic lymphocytic leukemia
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
Hereditary breast and ovarian cancer syndrome
Familial prostate cancer
Familial pancreatic carcinoma
Fanconi anemia
Precursor T-cell acute lymphoblastic leukemia
Seckel syndrome
Precursor B-cell acute lymphoblastic leukemia
Constitutional mismatch repair deficiency syndrome
Hereditary breast cancer
Hereditary nonpolyposis colon cancer
Hereditary site-specific ovarian cancer syndrome
Li-Fraumeni syndrome
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Cornelia de Lange syndrome
Omenn syndrome
Adrenocortical carcinoma
Chronic myeloid leukemia
Essential thrombocythemia
Giant cell glioblastoma
Gliosarcoma
Papilloma of choroid plexus
Primary peritoneal carcinoma
Bloom syndrome
Nijmegen breakage syndrome
Ataxia-telangiectasia-like disorder
Severe combined immunodeficiency due to DNA-PKcs deficiency
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Melanoma of soft part
Spinocerebellar ataxia type 1 with axonal neuropathy
Chuvash erythrocytosis
Intellectual deficit, X-linked, Turner type
Von Hippel-Lindau disease
Jawad syndrome
Xeroderma pigmentosum complementation group C
Werner syndrome
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Osteosarcoma
Familial congenital mirror movements
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Atypical teratoid tumor
Autosomal dominant progressive external ophthalmoplegia
Chorioretinopathy, Birdshot type
Coffin-Siris syndrome
Congenital analbuminemia
Familial multiple meningioma
Familial rhabdoid tumor
Kearns-Sayre syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial neurogastrointestinal encephalomyopathy
Neurofibromatosis type 3
Severe combined immunodeficiency due to DCLRE1C deficiency
Dedifferentiated liposarcoma
Multiple endocrine neoplasia type 1
Well-differentiated liposarcoma
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Peutz-Jeghers syndrome
Zellweger syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Burkitt lymphoma
LIG4 syndrome
Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Spondylocarpotarsal synostosis
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Autosomal dominant hypohidrotic ectodermal dysplasia
Ear-patella-short stature syndrome
Nijmegen breakage syndrome-like disorder
Xeroderma pigmentosum complementation group A
Aicardi-Goutières syndrome
Anaplastic ependymoma
Autosomal recessive primary microcephaly
Cerebroretinal vasculopathy
Chilblain lupus
Familial advanced sleep-phase syndrome
HERNS syndrome
Hereditary vascular retinopathy
Premature chromosome condensation with microcephaly and intellectual deficit
Synonym(s):
- Louis-Bar syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare immune disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: D001260
Gene symbol UniProt reference OMIM reference
ATM Q13315607585
Very frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal gait
- Abnormal hepatic enzymes / transaminases
- Abnormal / polycystic ovaries
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Chromosome breakage
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Late puberty / hypogonadism / hypogenitalism
- Lymphopenia
- Movement disorder
- Nystagmus
- Premature ageing
- Premature greying of hair
- Repeat respiratory infections
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Strabismus / squint
- T-cell deficiency / cellular immunity deficiency
- Telangiectasiae of mucosae
- Telangiectasiae of the skin
- Thymic aplasia / hypoplasia
- Tremor

Frequent
- Albinism (hair)
- Diabetes mellitus
- Elocution disorders / dysarthria / dysphonia
- Hypertonia / spasticity / rigidity / stiffness
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism

Occasional
- Cafe-au-lait spot
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Insulin-independent / type 2 diabetes
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Skin hypoplasia / aplasia / atrophy
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia