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Juvenile polyposis of infancy
1 OMIM reference -
2 associated genes
99 connected diseases
No signs/symptoms info
Disease Type of connection
Cowden syndrome
Proteus syndrome
Bannayan-Riley-Ruvalcaba syndrome
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary breast and ovarian cancer syndrome
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Brachydactyly type A2
Heritable pulmonary arterial hypertension
Brachydactyly type C
Precursor B-cell acute lymphoblastic leukemia
Idiopathic hypereosinophilic syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Young adult-onset Parkinsonism
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
20p12.3 microdeletion syndrome
14q22q23 microdeletion syndrome
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Angel-shaped phalango-epiphyseal dysplasia
Brachydactyly type A1
Fibular aplasia - complex brachydactyly
Microphthalmia with brain and digit anomalies
Multiple synostoses syndrome
Proximal symphalangism
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Idiopathic pulmonary arterial hypertension
Li-Fraumeni syndrome
Papilloma of choroid plexus
Pulmonary venoocclusive disease
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Nager syndrome
Colobomatous microphthalmia
Estrogen resistance syndrome
Isolated Klippel-Feil syndrome
Leber congenital amaurosis
X-linked lymphoproliferative disease
Cerebellar ataxia - hypogonadism
Peutz-Jeghers syndrome
Fibrodysplasia ossificans progressiva
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Amyotrophic lateral sclerosis
Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal dominant methemoglobinemia
Autosomal recessive epidermolysis bullosa simplex
BAP1-related tumor predisposition syndrome
Blepharophimosis-intellectual deficit syndrome, MKB type
Cleidocranial dysplasia
Congenital contractural arachnodactyly
Dermatopathia pigmentosa reticularis
Distal 22q11.2 microdeletion syndrome
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
FG syndrome type 1
Familial gastric cancer
Gastric linitis plastica
Gastrointestinal stromal tumor
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Hb Bart's hydrops fetalis
Hemoglobin H disease
Juvenile myelomonocytic leukemia
Localized epidermolysis bullosa simplex
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Myeloid neoplasm associated with PDGFRA rearrangement
Naegeli-Franceschetti-Jadassohn syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Persistent Müllerian duct syndrome
SERKAL syndrome
Spinocerebellar ataxia type 11
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Synonym(s):
- Infantile juvenile polyposis syndrome
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
BMPR1A P36894601299
PTEN P60484601728
No signs/symptoms info available.