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Generalized juvenile polyposis/juvenile polyposis coli
1 OMIM reference -
3 associated genes
171 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary hemorrhagic telangiectasia
Hereditary nonpolyposis colon cancer
Familial cerebral saccular aneurysm
Familial pancreatic carcinoma
Hereditary mixed polyposis syndrome
Juvenile polyposis of infancy
Myhre syndrome
Familial thoracic aortic aneurysm and aortic dissection
Heritable pulmonary arterial hypertension
Brachydactyly type A2
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Brachydactyly type C
20p12.3 microdeletion syndrome
Fibrodysplasia ossificans progressiva
Marfan syndrome type 2
Myelodysplastic syndromes
Pulmonary venoocclusive disease
Colobomatous microphthalmia
Familial isolated dilated cardiomyopathy
Leber hereditary optic neuropathy
MELAS syndrome
Maternally-inherited Leigh syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome
Peters anomaly
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
1p36 deletion syndrome
Aneurysm - osteoarthritis syndrome
Shprintzen-Goldberg syndrome
14q22q23 microdeletion syndrome
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Angel-shaped phalango-epiphyseal dysplasia
Brachydactyly type A1
Cowden syndrome
Fibular aplasia - complex brachydactyly
Microphthalmia with brain and digit anomalies
Multiple synostoses syndrome
Proteus syndrome
Proximal symphalangism
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Papillary or follicular thyroid carcinoma
Partial androgen insensitivity syndrome
Split hand-split foot malformation
Idiopathic pulmonary arterial hypertension
Acute myeloid leukemia
Deafness - lymphedema - leukemia
Monocytopenia with susceptibility to infections
Alveolar soft-part sarcoma
Camurati-Engelmann disease
Cystic fibrosis
Hereditary pheochromocytoma-paraganglioma
Translocation renal cell carcinoma
Joubert syndrome with oculorenal defect
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Nager syndrome
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Estrogen resistance syndrome
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Inherited acute myeloid leukemia
Isolated Klippel-Feil syndrome
Leber congenital amaurosis
Alveolar rhabdomyosarcoma
Familial drusen
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Fibronectin glomerulopathy
Hepatocellular carcinoma, childhood-onset
Melanoma of soft part
Pilomatrixoma
Primary CD59 deficiency
Synpolydactyly type 2
Young adult-onset distal hereditary motor neuropathy
Situs ambiguus
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
Cerebellar ataxia - hypogonadism
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Reducing body myopathy
Spondylo-megaepiphyseal-metaphyseal dysplasia
Watson syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
Alpha-1-antitrypsin deficiency
Alpha-crystallinopathy
Anaplastic ependymoma
Aniridia - cerebellar ataxia - intellectual deficit
Athyreosis
Atrial septal defect - atrioventricular conduction defects
Atrial septal defect, ostium secundum type
Autosomal dominant keratitis
Cleidocranial dysplasia
Familial advanced sleep-phase syndrome
Familial atrial fibrillation
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Fatal infantile hypertonic myofibrillar myopathy
Foveal hypoplasia - presenile cataract
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hypoplasminogenemia
Hypoplastic left heart syndrome
Isolated aniridia
Isolated optic nerve hypoplasia
Leber 'plus' disease
Ligneous conjunctivitis
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Morning glory syndrome
Posterior polar cataract
Richieri Costa-Pereira syndrome
Single ventricular septal defect
Tetralogy of Fallot
Thyroid hypoplasia
WAGR syndrome
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Zonular cataract
Hyperinsulinism due to HNF4A deficiency
MODY syndrome
Ovarian adenocarcinoma
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Distal 22q11.2 microdeletion syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
Acrocallosal syndrome
Amyotrophic lateral sclerosis
Atypical Rett syndrome
Autoimmune lymphoproliferative syndrome
Autosomal recessive lymphoproliferative disease
Congenital intrauterine infection-like syndrome
Familial prostate cancer
Greig cephalopolysyndactyly syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Large congenital melanocytic nevus
Neutrophil immunodeficiency syndrome
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Primary peritoneal carcinoma
Pulmonary capillary hemangiomatosis
Combined oxidative phosphorylation defect type 4
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
BMPR1A P36894601299
ENG P17813131195
SMAD4 Q13485600993
No signs/symptoms info available.