JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: JP/HHT SYNDROME
POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
JPS/HHT
JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA
JPHT
Number of Symptoms 20
OrphanetNr:
OMIM Id: 175050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000421) Epistaxis 10/16 [HPO] 15031030 IBIS 85 / 7739
2
(HPO:0001217) Clubbing 17/25 [HPO] 15031030 IBIS 39 / 7739
3
(HPO:0006574) Hepatic arteriovenous malformation 6/25 [HPO] 15031030 IBIS 5 / 7739
4
(HPO:0002573) Hematochezia 18 / 7739
5
(HPO:0004784) Juvenile gastrointestinal polyposis 100% [HPO] 1 / 7739
6
(HPO:0004390) Hamartomatous polyposis 9 / 7739
7
(HPO:0002672) Gastrointestinal carcinoma 5/20 [HPO] 15031030 IBIS 3 / 7739
8
(HPO:0001009) Telangiectasia 14/20 [HPO] 15031030 IBIS 46 / 7739
9
(HPO:0100026) Arteriovenous malformation 38 / 7739
10
(HPO:0001724) Aortic dilatation rare [HPO:skoehler] 24 / 7739
11
(HPO:0001634) Mitral valve prolapse rare [HPO:skoehler] 69 / 7739
12
(HPO:0006548) Pulmonary arteriovenous malformation 18/25 [HPO] 15031030 IBIS 5 / 7739
13
(HPO:0002408) Cerebral arteriovenous malformation 3/25 [HPO] 15031030 IBIS 7 / 7739
14
(HPO:0001297) Stroke 3/25 [HPO] 15031030 IBIS 44 / 7739
15
(HPO:0001653) Mitral regurgitation rare [HPO:skoehler] 64 / 7739
16
(HPO:0001903) Anemia 289 / 7739
17
(OMIM) Increased risk of gastrointestinal cancer 1 / 7739
18
(MedDRA:10020877) Hypertrophic osteoarthropathy 1 / 7739
19
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
(OMIM) Redundant mitral valve leaflets (1 family) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The JP/HHT syndrome phenotype refers of the coexistence of juvenile polyposis syndrome (JPS; 174900) and hereditary hemorrhagic telangiectasia (HHT; 187300) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an ...
Clinical Description OMIM Cox et al. (1980) described a 28-year-old woman and her 10-year-old daughter with this combination. Both showed severe digital clubbing. Polyps were discovered in the colon of the daughter at age 5 years. At the age of 8 ...
Molecular genetics OMIM Juvenile polyposis and hereditary hemorrhagic telangiectasia are autosomal dominant disorders with distinct and nonoverlapping clinical features. The former, a predisposition to gastrointestinal malignancy, is caused by mutations in MADH4 or BMPR1A (601299); the latter, a vascular malformation disorder, ...