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Severe combined immunodeficiency due to DNA-PKcs deficiency
1 associated gene
151 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary breast and ovarian cancer syndrome
Giant cell glioblastoma
Gliosarcoma
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Non-polyposis Turcot syndrome
Chronic granulomatous disease
Familial prostate cancer
B-cell chronic lymphocytic leukemia
Omenn syndrome
Precursor B-cell acute lymphoblastic leukemia
Ewing sarcoma
Familial pancreatic carcinoma
Precursor T-cell acute lymphoblastic leukemia
Young adult-onset Parkinsonism
Li-Fraumeni syndrome
Extraskeletal Ewing sarcoma
Peripheral resistance to thyroid hormones
Muir-Torre syndrome
Williams syndrome
Common variable immunodeficiency
Seckel syndrome
Severe combined immunodeficiency due to DCLRE1C deficiency
Adrenocortical carcinoma
Cowden syndrome
Essential thrombocythemia
Papilloma of choroid plexus
Peripheral primitive neuroectodermal tumor
Proteus syndrome
Werner syndrome
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
LIG4 syndrome
Ataxia-telangiectasia-like disorder
CLN3 disease
Chronic myeloid leukemia
Familial partial lipodystrophy due to AKT2 mutations
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Estrogen resistance syndrome
Cornelia de Lange syndrome
Anaplastic ependymoma
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autoimmune polyendocrinopathy type 1
Burkitt lymphoma
Complete androgen insensitivity syndrome
Congenital bilateral absence of vas deferens
Cystic fibrosis
Familial hypospadias
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hereditary chronic pancreatitis
Hypohidrotic ectodermal dysplasia with immunodeficiency
Idiopathic bronchiectasis
Incontinentia pigmenti
Intermittent hydrarthrosis
Kennedy disease
Leber congenital amaurosis
Male infertility with normal virilization due to meiosis defect
Neuroblastoma
Partial androgen insensitivity syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Senior-Loken syndrome
Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
TRAPS syndrome
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Nijmegen breakage syndrome
Alobar holoprosencephaly
Generalized resistance to thyroid hormone
Hyper-IgM syndrome type 2
Intrahepatic cholestasis of pregnancy
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Selective pituitary resistance to thyroid hormone
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
6-pyruvoyl-tetrahydropterin synthase deficiency
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic 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
Carpenter-Waziri syndrome
Charcot-Marie-Tooth disease type 2B1
Chudley-Lowry-Hoar syndrome
Congenital muscular dystrophy due to LMNA mutation
Dedifferentiated liposarcoma
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial dysautonomia
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
Fibronectin glomerulopathy
Heart-hand syndrome, Slovenian type
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Holmes-Gang syndrome
Hutchinson-Gilford progeria syndrome
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Isolated adermatoglyphia
Juberg-Marsidi syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Microcephaly - seizures - developmental delay
Muscular dystrophy, Selcen type
Nijmegen breakage syndrome-like disorder
Primary peritoneal carcinoma
Progeria-associated arthropathy
Pseudohypoaldosteronism type 2E
Smith-Fineman-Myers syndrome
Smith-Magenis syndrome
Spinocerebellar ataxia type 26
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked non-syndromic intellectual deficit
Glucocorticoid resistance
Xeroderma pigmentosum complementation group A
Aicardi-Goutières syndrome
Amyotrophic lateral sclerosis
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Cerebroretinal vasculopathy
Chilblain lupus
Congenital cataracts - facial dysmorphism - neuropathy
HERNS syndrome
Hereditary vascular retinopathy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
MODY syndrome
Osteosarcoma
Partial pancreatic agenesis
Permanent neonatal diabetes mellitus
3-phosphoglycerate dehydrogenase deficiency
Acute necrotizing encephalopathy of childhood
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Familial acute necrotizing encephalopathy
Inflammatory myofibroblastic tumor
Jawad syndrome
Mandibulofacial dysostosis-microcephaly syndrome
Papillary or follicular thyroid carcinoma
Retinitis pigmentosa
Synonym(s):
- SCID due to DNA-PKcs deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
PRKDC P78527600899
No signs/symptoms info available.