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Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
1 OMIM reference -
2 associated genes
96 connected diseases
No signs/symptoms info
Disease Type of connection
Tuberous sclerosis
Familial isolated dilated cardiomyopathy
Isolated focal cortical dysplasia type IIb
Cowden syndrome
Proteus syndrome
Angelman syndrome
Distal 22q11.2 microdeletion syndrome
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Estrogen resistance syndrome
Miller-Dieker syndrome
Peters anomaly
Alveolar rhabdomyosarcoma
Catecholaminergic polymorphic ventricular tachycardia
Isolated megalencephaly
Joubert syndrome with renal defect
Juvenile autosomal recessive medullary cystic kidney disease
Senior-Loken syndrome
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Caffey disease
Czech dysplasia, metatarsal type
Dermatofibrosarcoma protuberans
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Familial avascular necrosis of femoral head
Fibronectin glomerulopathy
High bone mass osteogenesis imperfecta
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Pulverulent cataract
Scapuloperoneal amyotrophy
B-cell chronic lymphocytic leukemia
Mantle cell lymphoma
Multiple myeloma
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Chronic myeloid leukemia
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Short rib-polydactyly syndrome, Majewski type
Autosomal dominant macrothrombocytopenia
Autosomal dominant nonsyndromic intellectual deficit
Berardinelli-Seip congenital lipodystrophy
Desmoid tumor
Diffuse cutaneous systemic sclerosis
Familial gastric cancer
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Gastric linitis plastica
Hepatocellular carcinoma, childhood-onset
Heritable pulmonary arterial hypertension
Lethal acantholytic epidermolysis bullosa
Limited cutaneous systemic sclerosis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Naxos disease
Budd-Chiari syndrome
Essential thrombocythemia
Familial partial lipodystrophy due to AKT2 mutations
Familial thrombocytosis
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Myelofibrosis with myeloid metaplasia
Polycythemia vera
- Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
PKD1 P98161601313
TSC2 P49815191092
No signs/symptoms info available.