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Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
1 OMIM reference -
1 associated gene
66 connected diseases
No signs/symptoms info
Disease Type of connection
Seckel syndrome
Hereditary breast and ovarian cancer syndrome
Familial prostate cancer
Familial pancreatic carcinoma
Hereditary nonpolyposis colon cancer
Precursor B-cell acute lymphoblastic leukemia
Fanconi anemia
B-cell chronic lymphocytic leukemia
Constitutional mismatch repair deficiency syndrome
Li-Fraumeni syndrome
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Giant cell glioblastoma
Gliosarcoma
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Precursor T-cell acute lymphoblastic leukemia
Omenn syndrome
Adrenocortical carcinoma
Essential thrombocythemia
Papilloma of choroid plexus
Primary peritoneal carcinoma
Nijmegen breakage syndrome
Chronic myeloid leukemia
Werner syndrome
Xeroderma pigmentosum complementation group A
Xeroderma pigmentosum complementation group C
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
Osteosarcoma
Melanoma of soft part
Senior-Loken syndrome
Ear-patella-short stature syndrome
Multiple endocrine neoplasia type 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Familial capillary hemangioma
Bloom syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
Ataxia-telangiectasia-like disorder
CLOVE syndrome
Cornelia de Lange syndrome
Cowden syndrome
Familial melanoma
Hemimegalencephaly
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
LIG4 syndrome
Macrodactyly of fingers, unilateral
Mandibular hypoplasia-deafness-progeroid syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Aicardi-Goutières syndrome
Cerebroretinal vasculopathy
Chilblain lupus
HERNS syndrome
Hereditary vascular retinopathy
Autosomal recessive primary microcephaly
Premature chromosome condensation with microcephaly and intellectual deficit
Severe combined immunodeficiency due to DCLRE1C deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATR Q13535601215
No signs/symptoms info available.