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Early-onset autosomal dominant Alzheimer disease
16 OMIM references -
4 associated genes
541 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated dilated cardiomyopathy
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
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
Young adult-onset Parkinsonism
Autosomal dominant nonsyndromic intellectual deficit
Isolated NADH-CoQ reductase deficiency
Alexander disease type I
Alexander disease type II
Fanconi anemia
Primary ciliary dyskinesia
Retinitis pigmentosa
Leigh syndrome with leukodystrophy
Autosomal dominant hypohidrotic ectodermal dysplasia
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Hyperlipidemia type 3
Lipoprotein glomerulopathy
Sea-blue histiocytosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial thoracic aortic aneurysm and aortic dissection
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autoimmune lymphoproliferative syndrome with recurrent infections
Amyotrophic lateral sclerosis
Blackfan-Diamond anemia
Familial melanoma
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Leber congenital amaurosis
X-linked non-syndromic intellectual deficit
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
Cystic fibrosis
Rare isolated myopia
Berardinelli-Seip congenital lipodystrophy
Monosomy 5p
Posterior polar cataract
Glutaryl-CoA dehydrogenase deficiency
Lethal acantholytic epidermolysis bullosa
Classical progressive supranuclear palsy
Early infantile epileptic encephalopathy
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Juvenile myelomonocytic leukemia
Noonan syndrome
Hyperlipoproteinemia type 5
Baraitser-Winter syndrome
Hereditary chronic pancreatitis
Familial advanced sleep-phase syndrome
X-linked diffuse leiomyomatosis - Alport syndrome
Lennox-Gastaut syndrome
Multiple acyl-CoA dehydrogenation deficiency, mild type
Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Achromatopsia
Acute promyelocytic leukemia
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
Autosomal dominant centronuclear myopathy
Combined deficiency of factor V and factor VIII
Cree leukoencephalopathy
Dedifferentiated liposarcoma
Delta-beta-thalassemia
Ear-patella-short stature syndrome
Ewing sarcoma
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial prostate cancer
Frontotemporal dementia with motor neuron disease
Hereditary breast and ovarian cancer syndrome
Hereditary nonpolyposis colon cancer
Hereditary persistence of fetal hemoglobin - sickle cell disease
Isolated ATP synthase deficiency
Leigh syndrome with cardiomyopathy
Multiple endocrine neoplasia type 1
Ovarioleukodystrophy
Waardenburg syndrome type 2
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
Autosomal agammaglobulinemia
Idiopathic pulmonary fibrosis
Left ventricular noncompaction
Acroosteolysis dominant type
Alagille syndrome due to a NOTCH2 point mutation
CADASIL
Familial porencephaly
Infantile myofibromatosis
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Parkinsonian-pyramidal syndrome
Synpolydactyly type 2
Apolipoprotein A-I deficiency
Familial Alzheimer-like prion disease
Familial gastric cancer
Familial renal amyloidosis due to Apolipoprotein AI variant
Fatal familial insomnia
Gastric linitis plastica
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Primary systemic amyloidosis
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Naxos disease
Camurati-Engelmann disease
CLN10 disease
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Zonular cataract
Familial amyloidosis, Finnish type
Acatalasemia
Autosomal dominant spastic paraplegia type 13
Familial partial lipodystrophy due to AKT2 mutations
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Pelizaeus-Merzbacher-like due to HSPD1 mutation
CADDS
Follicular lymphoma
Intravascular large B-cell lymphoma
Peters anomaly
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Dehydratase deficiency
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
Leber 'plus' disease
Maternally-inherited Leigh syndrome
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Sporadic Leigh syndrome
Watson syndrome
Congenital bilateral absence of vas deferens
Hyperlipoproteinemia type 4
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
X-linked nonsyndromic sensorineural deafness type DFN
15q13.3 microdeletion syndrome
Neonatal inflammatory skin and bowel disease
Homozygous familial hypercholesterolemia
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Alpha-1-antichymotrypsin deficiency
Anauxetic dysplasia
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant macrothrombocytopenia
Autosomal recessive limb-girdle muscular dystrophy type 2P
Autosomal recessive spastic paraplegia type 18
Cerebellar ataxia - hypogonadism
Charcot-Marie-Tooth disease type 1F
Developmental malformations - deafness - dystonia
Dravet syndrome
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Epilepsy with myoclonic-astatic seizures
Familial amyloid polyneuropathy
Familial or sporadic hemiplegic migraine
Generalized epilepsy with febrile seizures-plus context
Hemochromatosis type 4
Hereditary orotic aciduria
Hermansky-Pudlak syndrome with pulmonary fibrosis
Juvenile primary lateral sclerosis
Malignant migrating partial seizures of infancy
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Recessive intellectual disability - motor dysfunction - multiple joint contractures
Severe early-onset axonal neuropathy due to NEFL deficiency
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Transthyretin-related familial amyloid cardiomyopathy
Congenital factor XII deficiency
Dyssegmental dysplasia, Silverman-Handmaker type
Hereditary angioedema type 3
Mitochondrial trifunctional protein deficiency
Schwartz-Jampel syndrome
12p12.1 microdeletion syndrome
2q37 microdeletion syndrome
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-methylglutaconic aciduria type 3
3-phosphoglycerate dehydrogenase deficiency
Abruzzo-Erickson syndrome
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Acute intermittent porphyria
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute neonatal citrullinemia type I
Adams-Oliver syndrome
Adenine phosphoribosyltransferase deficiency
Adult-onset autosomal recessive sideroblastic anemia
Adult-onset citrullinemia type I
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Agnathia - holoprosencephaly - situs inversus
Aicardi-Goutières syndrome
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alpha-N-acetylgalactosaminidase deficiency type 3
Alveolar soft-part sarcoma
Aneurysm - osteoarthritis syndrome
Angelman syndrome
Antley-Bixler syndrome
Apert syndrome
Arthrogryposis - renal dysfunction - cholestasis
Ataxia with vitamin E deficiency
Atrial septal defect, ostium primum type
Atrial septal defect, ostium secundum type
Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Atypical teratoid tumor
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Autoimmune lymphoproliferative syndrome
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant limb-girdle muscular dystrophy type 1A
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic type
Autosomal recessive centronuclear myopathy
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive spastic ataxia with leukoencephalopathy
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 53
Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 55
Autosomal recessive spondylocostal dysostosis
Autosomal recessive systemic lupus erythematosus
Bardet-Biedl syndrome
Becker muscular dystrophy
Beta-propeller protein-associated neurodegeneration
Birt-Hogg-Dube syndrome
Blepharophimosis-intellectual deficit syndrome, MKB type
Bohring-Opitz syndrome
Bothnia retinal dystrophy
Bowen-Conradi syndrome
Brachydactyly type A2
Brachydactyly type C
Brachyolmia type 1, Toledo type
Cabezas syndrome
Capillary malformation - arteriovenous malformation
Cardiofaciocutaneous syndrome
Cerebellar ataxia, Cayman type
Charcot-Marie-Tooth disease type 4G
Chilblain lupus
Chuvash erythrocytosis
Clear cell renal carcinoma
Coats disease
Coffin-Siris syndrome
Combined immunodeficiency due to ZAP70 deficiency
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 9
Combined pituitary hormone deficiencies, genetic forms
Common variable immunodeficiency
Cone rod dystrophy
Congenital analbuminemia
Congenital mesoblastic nephroma
Congenital non-communicating hydrocephalus
Congenital sodium diarrhea
Costello syndrome
Cowden syndrome
Cranio-osteoarthropathy
Crouzon disease
Cutis gyrata - acanthosis nigricans - craniosynostosis
Developmental and speech delay due to SOX5 deficiency
Diffuse panbronchiolitis
Dilated cardiomyopathy with ataxia
Distal monosomy 12p
Distal monosomy 15q
Distal monosomy 3p
Donnai-Barrow syndrome
Duchenne muscular dystrophy
Early-onset spastic ataxia-neuropathy syndrome
Endocrine-cerebro-osteodysplasia syndrome
Erythrocyte galactose epimerase deficiency
Ethylmalonic encephalopathy
Extraskeletal Ewing sarcoma
FG syndrome type 1
FGFR2-related bent bone dysplasia
Familial exudative vitreoretinopathy
Familial hemophagocytic lymphohistiocytosis
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial isolated restrictive cardiomyopathy
Familial lipoprotein lipase deficiency
Familial multiple meningioma
Familial pancreatic carcinoma
Familial partial lipodystrophy associated with PPARG mutations
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Familial rhabdoid tumor
Familial scaphocephaly syndrome, McGillivray type
Familial spontaneous pneumothorax
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fatal infantile cytochrome C oxidase deficiency
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fibrosarcoma
Fleck corneal dystrophy
Free sialic acid storage disease, infantile form
Fucosidosis
Fundus albipunctatus
Galactokinase deficiency
Generalized galactose epimerase deficiency
Geroderma osteodysplastica
Giant cell glioblastoma
Gliosarcoma
Glycogen storage disease due to GLUT2 deficiency
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to phosphoglucomutase deficiency
Griscelli disease type 2
Growth delay due to insulin-like growth factor I resistance
Hamel cerebro-palato-cardiac syndrome
Hemoglobin Lepore - beta-thalassemia
Hemoglobinopathy Toms River
Hemolytic anemia due to adenylate kinase deficiency
Hereditary North American Indian childhood cirrhosis
Hereditary fructose intolerance
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type 2
Herpetic encephalitis
Hyper-IgM syndrome type 2
Hyper-IgM syndrome type 5
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperphosphatasia-intellectual deficiency syndrome
Hyperprolinemia type 2
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Idiopathic hypereosinophilic syndrome
Immunodeficiency by defective expression of HLA class 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Infantile Bartter syndrome with deafness
Infantile Refsum disease
Infantile autosomal recessive medullary cystic kidney disease
Infantile cerebellar-retinal degeneration
Inflammatory myofibroblastic tumor
Intellectual deficit, X-linked, Siderius type
Intermediate severe Salla disease
Isolated CoQ-cytochrome C reductase deficiency
Isolated Klippel-Feil syndrome
Isolated anophthalmia - microphthalmia
Isolated congenital digital clubbing
Isolated cytochrome C oxidase deficiency
Isolated megalencephaly
Jackson-Weiss syndrome
Junctional epidermolysis bullosa - pyloric atresia
Juvenile autosomal recessive medullary cystic kidney disease
Lacrimo-auriculo-dento-digital syndrome
Laron syndrome with immunodeficiency
Leigh syndrome with nephrotic syndrome
Leukocyte adhesion deficiency type III
Leukonychia totalis
Li-Fraumeni syndrome
Linear nevus sebaceus syndrome
Lissencephaly type 1 due to doublecortin gene mutation
Loeys-Dietz syndrome type 1
MEGDEL syndrome
MITF-related melanoma and renal cell carcinoma predisposition syndrome
MODY syndrome
MPI-CDG
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Marfan syndrome type 2
McKusick-Kaufman syndrome
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Mesomelia-synostoses syndrome
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Micro syndrome
Microcephalic primordial dwarfism, Alazami type
Microcephaly - seizures - developmental delay
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Mosaic variegated aneuploidy syndrome
Mowat-Wilson syndrome due to a point mutation
Mowat-Wilson syndrome due to monosomy 2q22
Mucocutaneous venous malformations
Mucolipidosis type 2
Mucolipidosis type 3
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Myostatin-related muscle hypertrophy
Myotilin-related myofibrillar myopathy without spheroid body
Nail-patella syndrome
Narcolepsy-cataplexy
Neonatal adrenoleukodystrophy
Neuralgic amyotrophy
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Neurofibromatosis type 3
Neurological conditions associated with aminoacylase 1 deficiency
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Noonan syndrome-like disorder with loose anagen hair
Normosmic congenital hypogonadotropic hypogonadism
Norrie disease
Nuclear cataract
Obesity due to pro-opiomelanocortin deficiency
Ocular albinism with congenital sensorineural deafness
Ondine syndrome
Osteosarcoma
PGM-CDG
Pachydermoperiostosis
Pancreatic insufficiency - anemia - hyperostosis
Papillary or follicular thyroid carcinoma
Papillary renal cell carcinoma
Parkes Weber syndrome
Paroxysmal non-kinesigenic dyskinesia
Pelizaeus-Merzbacher-like due to AIMP1 mutation
Pendred syndrome
Pentosuria
Peripheral primitive neuroectodermal tumor
Permanent neonatal diabetes mellitus
Persistent hyperplastic primary vitreous
Peutz-Jeghers syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Phosphoenolpyruvate carboxykinase 1 deficiency
Phosphoenolpyruvate carboxykinase 2 deficiency
Phosphoserine aminotransferase deficiency
Piebaldism
Pilocytic astrocytoma
Pontocerebellar hypoplasia type 1
Progressive cone dystrophy
Progressive myoclonic epilepsy type 6
Proteus syndrome
Pseudohypoaldosteronism type 2E
Pulverulent cataract
Punctate palmoplantar keratoderma type 1
Pyridoxal phosphate-responsive seizures
Pyridoxine-dependent epilepsy
Refsum disease
Retinitis punctata albescens
Retinopathy of prematurity
Romano-Ward syndrome
SERKAL syndrome
Saethre-Chotzen syndrome
Salla disease
Schinzel-Giedion syndrome
Septo-optic dysplasia
Severe early-childhood-onset retinal dystrophy
Severe intellectual deficit and progressive spastic paraplegia
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Situs ambiguus
Situs inversus totalis
Spheroid body myopathy
Spinocerebellar ataxia type 14
Spinocerebellar ataxia type 23
Spinocerebellar ataxia type 28
Spinocerebellar ataxia with axonal neuropathy type 2
Spondyloepimetaphyseal dysplasia, Pakistani type
Squamous cell carcinoma of head and neck
Subcortical band heterotopia
Sudden infant death - dysgenesis of the testes
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Syndactyly type 8
Syndromic microphthalmia type 5
Takayasu arteritis
Thiopurine S-methyltransferase deficiency
Thrombocytopenia - absent radius
Tietz syndrome
Total congenital cataract
Transcobalamin deficiency
Translocation renal cell carcinoma
Triose phosphate-isomerase deficiency
Von Hippel-Lindau disease
WAGR syndrome
Williams syndrome
Wolfram syndrome
X-linked Charcot-Marie-Tooth disease type 1
X-linked Charcot-Marie-Tooth disease type 6
X-linked agammaglobulinemia
X-linked cleft palate and ankyloglossia
X-linked dominant chondrodysplasia punctata
X-linked intellectual deficit with marfanoid habitus
X-linked intellectual deficit, Golabi-Ito-Hall type
X-linked intellectual deficit, Porteous type
X-linked intellectual deficit, Sutherland-Haan type
X-linked osteoporosis with fractures
X-linked progressive cerebellar ataxia
X-linked sideroblastic anemia - ataxia
Xeroderma pigmentosum variant
Zellweger syndrome
Autosomal dominant Alport syndrome
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Autosomal recessive Alport syndrome
Biliary atresia
Congenital high-molecular-weight kininogen deficiency
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Familial dementia, British type
Familial dementia, Danish type
Familial vascular leukoencephalopathy
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Postsynaptic congenital myasthenic syndromes
SHORT syndrome
Schizencephaly
Walker-Warburg syndrome
X-linked Alport syndrome
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Keratosis palmoplantaris striata
Knobloch syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Synonym(s):
- EOFAD
- Early-onset familial autosomal dominant Alzheimer disease
- Familial Alzheimer disease

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
16 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
APP P05067104760
PSEN1 P49768104311
PSEN2 P49810600759
SORL1 Q92673602005
No signs/symptoms info available.