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Ataxia-telangiectasia-like disorder
1 OMIM reference -
1 associated gene
65 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary breast and ovarian cancer syndrome
Familial prostate cancer
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Cree leukoencephalopathy
Ovarioleukodystrophy
Seckel syndrome
Nijmegen breakage syndrome-like disorder
Familial pancreatic carcinoma
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Nijmegen breakage syndrome
Primary peritoneal carcinoma
Ataxia-telangiectasia
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
Mantle cell lymphoma
Fanconi anemia
Severe combined immunodeficiency due to DNA-PKcs deficiency
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Carpenter-Waziri syndrome
Chudley-Lowry-Hoar syndrome
Holmes-Gang syndrome
Juberg-Marsidi syndrome
Smith-Fineman-Myers syndrome
Omenn syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Dedifferentiated liposarcoma
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Huntington disease
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Jawad syndrome
Juvenile Huntington disease
Short rib-polydactyly syndrome, Majewski type
Smith-Magenis syndrome
Well-differentiated liposarcoma
Bloom syndrome
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Synonym(s):
- ATLD
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MRE11A P49959600814
No signs/symptoms info available.