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Multiple endocrine neoplasia type 1
1 OMIM reference -
5 associated genes
173 connected diseases
13 signs/symptoms
Disease Type of connection
Familial melanoma
Multiple endocrine neoplasia type 4
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Zollinger-Ellison syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
B-cell chronic lymphocytic leukemia
Precursor B-cell acute lymphoblastic leukemia
Autosomal recessive primary microcephaly
Essential thrombocythemia
Giant cell glioblastoma
Familial pancreatic carcinoma
Mantle cell lymphoma
Precursor T-cell acute lymphoblastic leukemia
Adrenocortical carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Amyotrophic lateral sclerosis
Multiple myeloma
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Tuberous sclerosis
Pulverulent cataract
Estrogen resistance syndrome
Young adult-onset Parkinsonism
Autosomal dominant nonsyndromic intellectual deficit
Cowden syndrome
Proteus syndrome
Acute promyelocytic leukemia
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Cone rod dystrophy
Congenital fibrosis of extraocular muscles
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Idiopathic CD4 lymphocytopenia
Progressive non-fluent aphasia
Retinitis pigmentosa
Semantic dementia
Spastic paraplegia - Paget disease of bone
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
Lennox-Gastaut syndrome
Anaplastic ependymoma
Alexander disease type I
Alexander disease type II
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Aneurysm - osteoarthritis syndrome
Autosomal dominant hyper-IgE syndrome
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Familial thoracic aortic aneurysm and aortic dissection
Lissencephaly due to TUBA1A mutation
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Desmoid tumor
Fanconi anemia
Hepatocellular carcinoma, childhood-onset
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Common variable immunodeficiency
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Inherited acute myeloid leukemia
Budd-Chiari syndrome
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Isolated focal cortical dysplasia type IIb
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Ear-patella-short stature syndrome
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Ataxia-telangiectasia variant
Autosomal agammaglobulinemia
Burkitt lymphoma
Combined cervical dystonia
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Fuchs endothelial corneal dystrophy
Pallister-Hall syndrome
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Seckel syndrome
Angelman syndrome
17p11.2 microduplication syndrome
46,XY partial gonadal dysgenesis
Acute basophilic leukemia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Baraitser-Winter syndrome
Bardet-Biedl syndrome
Cerebellar ataxia - hypogonadism
Charcot-Marie-Tooth disease type 4B3
Congenital factor XIII deficiency
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Constitutional mismatch repair deficiency syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Denys-Drash syndrome
Desmoplastic small round cell tumor
Developmental malformations - deafness - dystonia
Familial afibrinogenemia
Familial dysautonomia
Familial dysfibrinogenemia
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Frasier syndrome
Glycogen storage disease due to liver phosphorylase kinase deficiency
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Hepatic veno-occlusive disease - immunodeficiency
Hereditary nonpolyposis colon cancer
Hypocalcemic vitamin D-resistant rickets
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Joubert syndrome with oculorenal defect
Leber congenital amaurosis
Legius syndrome
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Mandibulofacial dysostosis-microcephaly syndrome
Meacham syndrome
Meckel syndrome
Mitochondrial trifunctional protein deficiency
Monomelic amyotrophy
Muir-Torre syndrome
Multiple osteochondromas
Non-polyposis Turcot syndrome
Polymicrogyria due to TUBB2B mutation
Potocki-Shaffer syndrome
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Senior-Loken syndrome
Smith-Magenis syndrome
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Tyrosinemia type 3
WAGR syndrome
Weill-Marchesani syndrome
X-linked Alport syndrome
X-linked diffuse leiomyomatosis - Alport syndrome
X-linked dystonia-parkinsonism
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Chronic myeloid leukemia
2q37 microdeletion syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Methylmalonic acidemia with homocystinuria, type cblX
X-linked non-syndromic intellectual deficit
Autoimmune lymphoproliferative syndrome with recurrent infections
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
X-linked distal arthrogryposis multiplex congenita
Acrodysostosis with multiple hormone resistance
Carney complex
Familial atrial myxoma
Primary pigmented nodular adrenocortical disease
- MEN 1
- Wermer syndrome

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease

Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D018761

Very frequent
- Anomalies of the endocrine glands
- Anomaly of pancreatic hormones
- Autosomal dominant inheritance
- Hypercalcemia
- Hyperparathyroidy
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Neoplasms / tumors
- Parathyroids anomalies
- Structural anomalies of the pancreas

- Cortico-adrenal hyperplasia / hypersecretion
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Thyroid anomalies
- Xanthomas / lipomas