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Pseudohypoaldosteronism type 2E
1 OMIM reference -
1 associated gene
329 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Blackfan-Diamond anemia
Retinitis pigmentosa
Coffin-Siris syndrome
Williams syndrome
Epidermolytic palmoplantar keratoderma
Extraskeletal myxoid chondrosarcoma
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Isolated NADH-CoQ reductase deficiency
Papillary or follicular thyroid carcinoma
Hereditary nonpolyposis colon cancer
Acute infantile liver failure-multisystemic involvement syndrome
Aicardi-Goutières syndrome
Alternating hemiplegia of childhood
Annular epidermolytic ichthyosis
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic intellectual deficit
Bardet-Biedl syndrome
Classic maple syrup urine disease
Congenital fibrosis of extraocular muscles
Cornelia de Lange syndrome
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolytic ichthyosis
Familial infantile bilateral striatal necrosis
Familial multiple meningioma
Familial rhabdoid tumor
Follicular lymphoma
Frontotemporal dementia with motor neuron disease
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Hypotrichosis simplex
Inflammatory myofibroblastic tumor
Intermediate maple syrup urine disease
Intermittent maple syrup urine disease
Intravascular large B-cell lymphoma
Keratosis palmoplantaris striata
Leigh syndrome with cardiomyopathy
Leigh syndrome with leukodystrophy
Localized epidermolysis bullosa simplex
Myxoid / round cell liposarcoma
Neurofibromatosis type 3
Pachyonychia congenita
Precursor T-cell acute lymphoblastic leukemia
Thiamine-responsive maple syrup urine disease
Translocation renal cell carcinoma
White sponge nevus
Acute promyelocytic leukemia
Pseudohypoaldosteronism type 2D
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal dominant spastic paraplegia type 13
Estrogen resistance syndrome
Giant axonal neuropathy
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Progressive myoclonic epilepsy type 3
Pseudohypoaldosteronism type 2B
Catecholaminergic polymorphic ventricular tachycardia
17p13.3 microduplication syndrome
22q11.2 deletion syndrome
3-phosphoglycerate dehydrogenase deficiency
8p11.2 deletion syndrome
ACTH-independent macronodular adrenal hyperplasia
ALDH18A1-related De Barsy syndrome
ANE syndrome
Acrodysostosis with multiple hormone resistance
Acrokeratosis verruciformis of Hopf
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Adenosine monophosphate deaminase deficiency
Adult-onset distal myopathy due to VCP mutation
Anauxetic dysplasia
Arthrogryposis - renal dysfunction - cholestasis
Atypical teratoid tumor
Autosomal agammaglobulinemia
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant macrothrombocytopenia
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic type
Autosomal recessive centronuclear myopathy
Autosomal recessive cutis laxa type 2B
Autosomal recessive epidermolysis bullosa simplex
Autosomal recessive limb-girdle muscular dystrophy type 2H
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive primary microcephaly
Baraitser-Winter syndrome
Behavioral variant of frontotemporal dementia
Borjeson-Forssman-Lehmann syndrome
Brody myopathy
Cabezas syndrome
Cap myopathy
Cardiomyopathy - hypotonia - lactic acidosis
Carney complex
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Chilblain lupus
Childhood-onset nemaline myopathy
Chronic intestinal pseudoobstruction
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 4
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Congenital dyserythropoietic anemia type II
Congenital fiber-type disproportion myopathy
Congenital myasthenic syndromes with glycosylation defect
Congenital reticular ichthyosiform erythroderma
Congenital short bowel syndrome
Congenital valvular dysplasia
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Constitutional mismatch repair deficiency syndrome
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Cranioectodermal dysplasia
Craniofacial-ulnar-renal syndrome
Craniofrontonasal dysplasia
Craniolenticulosutural dysplasia
Darier disease
Dedifferentiated liposarcoma
Dehydratase deficiency
Dermatopathia pigmentosa reticularis
Desmoid tumor
Desmoplastic small round cell tumor
Developmental malformations - deafness - dystonia
Dihydropteridine reductase deficiency
Distal 17p13.3 microdeletion syndrome
Distal hereditary motor neuropathy type 2
Distal hereditary motor neuropathy type 7
Distal monosomy 12p
Distal myopathy with posterior leg and anterior hand involvement
Distal myopathy with vocal cord weakness
Distal myopathy, Welander type
Dowling-Degos disease
Dubowitz syndrome
Dyschromatosis symmetrica hereditaria
Dysequilibrium syndrome
Dyskeratosis congenita
Early infantile epileptic encephalopathy
Early myoclonic encephalopathy
Early-onset myopathy with fatal cardiomyopathy
Ehlers-Danlos syndrome with periventricular heterotopia
Ehlers-Danlos syndrome, kyphoscoliotic type
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Episodic ataxia type 6
Erythropoietic protoporphyria
Ewing sarcoma
Exercise-induced hyperinsulinism
Extraskeletal Ewing sarcoma
FADD-related immunodeficiency
Familial atrial fibrillation
Familial atrial myxoma
Familial dysautonomia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial isolated dilated cardiomyopathy
Familial lipoprotein lipase deficiency
Familial melanoma
Familial multinodular goiter
Familial or sporadic hemiplegic migraine
Familial thoracic aortic aneurysm and aortic dissection
Fanconi anemia
Fatal infantile cytochrome C oxidase deficiency
Frontometaphyseal dysplasia
Galactokinase deficiency
Geroderma osteodysplastica
Giant cell glioblastoma
Glomuvenous malformation
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to muscle phosphofructokinase deficiency
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Hepatocellular carcinoma, childhood-onset
Hereditary coproporphyria
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary orotic aciduria
Hereditary proximal myopathy with early respiratory failure
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Hereditary spherocytosis
Hoyeraal-Hreidarsson syndrome
Hyperinsulinism-hyperammonemia syndrome
Hyperlipoproteinemia type 5
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Hypotonia with lactic acidemia and hyperammonemia
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
ICF syndrome
Ichthyosis hystrix of Curth-Macklin
Idiopathic pulmonary fibrosis
Immunodeficiency by defective expression of HLA class 2
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Intellectual deficit, X-linked, Turner type
Intermediate nemaline myopathy
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Isolated ATP synthase deficiency
Isolated cytochrome C oxidase deficiency
Jalili syndrome
Joubert syndrome with renal defect
Juvenile amyotrophic lateral sclerosis
Ketoacidosis due to beta-ketothiolase deficiency
Kostmann syndrome
Late-onset autosomal recessive medullary cystic kidney disease
Lesch-Nyhan syndrome
Lethal acantholytic epidermolysis bullosa
Lissencephaly due to TUBA1A mutation
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Malignant migrating partial seizures of infancy
Mandibular hypoplasia-deafness-progeroid syndrome
Mandibulofacial dysostosis-microcephaly syndrome
Medium chain acyl-CoA dehydrogenase deficiency
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Melanoma of soft part
Metabolic myopathy due to lactate transporter defect
Methylmalonic acidemia with homocystinuria, type cblX
Miller-Dieker syndrome
Mitochondrial myopathy and sideroblastic anemia
Mosaic variegated aneuploidy syndrome
Moyamoya disease
Muir-Torre syndrome
Muscle filaminopathy
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Naegeli-Franceschetti-Jadassohn syndrome
Nager syndrome
Neurodegenerative syndrome due to cerebral folate transport deficiency
Non-polyposis Turcot syndrome
Oculootodental syndrome
Oculopharyngeal muscular dystrophy
Osteodysplasty, Melnick-Needles type
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Ovarian malignant Sertoli-Leydig cell tumor
PYCR1-related DeBarsy syndrome
Pediatric systemic lupus erythematosus
Periventricular nodular heterotopia
Perry syndrome
Pleuropulmonary blastoma family tumor susceptibility syndrome
Polymicrogyria due to TUBB2B mutation
Primary ciliary dyskinesia
Primary dystonia, DYT4 type
Primary mediastinal large B-cell lymphoma
Primary pigmented nodular adrenocortical disease
Progressive non-fluent aphasia
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Pulverulent cataract
Pure hair and nail ectodermal dysplasia
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-beta deficiency
Rare isolated myopia
Reticular dysgenesis
Richieri Costa-Pereira syndrome
SHORT syndrome
Semantic dementia
Severe X-linked mitochondrial encephalomyopathy
Severe combined immunodeficiency due to DNA-PKcs deficiency
Short rib-polydactyly syndrome, Verma-Naumoff type
Sjögren-Larsson syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Spastic paraplegia - Paget disease of bone
Spastic paraplegia-optic atrophy-neuropathy syndrome
Spinocerebellar ataxia type 10
Spinocerebellar ataxia type 12
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 26
Spinocerebellar ataxia type 36
Squamous cell carcinoma of head and neck
Superficial epidermolytic ichthyosis
Syndromic diarrhea
Syndromic multisystem autoimmune disease due to Itch deficiency
Synovial sarcoma
TARP syndrome
Terminal osseous dysplasia - pigmentary defects
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Tibial muscular dystrophy
Total spina bifida aperta
Total spina bifida cystica
Treacher-Collins syndrome
Triple A syndrome
Unverricht-Lundborg disease
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Vitiligo-associated autoimmune disease
Well-differentiated liposarcoma
Woolly hair
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
X-linked Charcot-Marie-Tooth disease type 4
X-linked Emery-Dreifuss muscular dystrophy
X-linked distal arthrogryposis multiplex congenita
X-linked non-syndromic intellectual deficit
Young adult-onset Parkinsonism
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
B-cell chronic lymphocytic leukemia
Mantle cell lymphoma
Multiple myeloma

Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the circulatory system -

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
CUL3 Q13618603136
No signs/symptoms info available.