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Hereditary mixed polyposis syndrome
2 OMIM references -
2 associated genes
30 connected diseases
No signs/symptoms info
Disease Type of connection
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary nonpolyposis colon cancer
Juvenile polyposis of infancy
Brachydactyly type A2
Brachydactyly type C
Heritable pulmonary arterial hypertension
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
Idiopathic pulmonary arterial hypertension
Pulmonary venoocclusive disease
Familial capillary hemangioma
Nager syndrome
Colobomatous microphthalmia
Isolated Klippel-Feil syndrome
Leber congenital amaurosis
Fibrodysplasia ossificans progressiva
Berardinelli-Seip congenital lipodystrophy
Cleidocranial dysplasia
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
BMPR1A P36894601299
GREM1 O60565603054
No signs/symptoms info available.