Retroperitoneal fibrosis

General Information (adopted from Orphanet):

Synonyms, Signs: RETROPERITONEAL FIBROSIS, FAMILIAL
MEDIASTINAL FIBROSIS, FAMILIAL
Ormond disease
Number of Symptoms 12
OrphanetNr: 49041
OMIM Id: 228800
ICD-10: M72.8
UMLs: C0035357
MeSH: D012185
MedDRA: 10038979
Snomed: 197808006
49120005

Prevalence, inheritance and age of onset:

Prevalence: 1.38 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare abdominal surgical disease
 -Rare abdominal surgical disease

Symptom Information: Sort by abundance 

1
 (HPO:0000464) Abnormality of the neck 31 / 7739
2
 (HPO:0100490) Camptodactyly of finger 212 / 7739
3
 (HPO:0000765) Abnormality of the thorax 64 / 7739
4
 (HPO:0012385) Camptodactyly 113 / 7739
5
 (HPO:0001392) Abnormality of the liver 28 / 7739
6
 (HPO:0005200) Retroperitoneal fibrosis 5 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Pseudotumor of orbit 1 / 7739
9
 (OMIM) Sclerosing cholangitis 2 / 7739
10
 (MedDRA:10027074) Mediastinal fibrosis 1 / 7739
11
 (OMIM) Seronegative spondylarthropathy 1 / 7739
12
 (OMIM) Riedel sclerosing thyroiditis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: