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Ataxia-telangiectasia

2 OMIM references -
1 associated gene
39 signs/symptoms

COMMON GENES: 1

Mantle cell lymphoma

3 associated genes
7 signs/symptoms

Ataxia-telangiectasia

Mantle cell lymphoma

ATM	(UniProt - OMIM)		ATM	(UniProt - OMIM)
			CCND1	(UniProt - OMIM)
			IGH	(UniProt)


COMMON GENES	ATM

Citations in the biomedical literature:

Ataxia-telangiectasia		Mantle cell lymphoma
	Synonym(s): - Louis-Bar syndrome		Synonym(s): - LCM - MCL - Mantle zone lymphoma

	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 (Orphanet): - Rare hematologic disease - Rare oncologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Neoplasms -

	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		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: multigenic/multifactorial

	External references: 2 OMIM references - 1 MeSH reference: D001260		External references: No OMIM references 1 MeSH reference: D020522

Ataxia-telangiectasia		Mantle cell lymphoma
	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		Very frequent - Hematologic / blood / lymphatic cancer - Lymphadenopathy / polyadenopathies Frequent - Anorexia - Asthenia / fatigue / weakness - Bone marrow / medullar infiltration - Splenomegaly - Weight loss / loss of appetite / break in weight curve / general health alteration