HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS

General Information (adopted from Orphanet):

Synonyms, Signs: PCFH
Number of Symptoms 6
OrphanetNr:
OMIM Id: 609808
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:0000951) Abnormality of the skin 147 / 7739
2
(HPO:0010566) Hamartoma 7 / 7739
3
(OMIM) Mature adipocytes surrounded by edematous interstitial component 1 / 7739
4
(OMIM) Single, bilateral, symmetric papular/nodular lesion in the midline plantar region of the heel (0.5 - 1 cm diameter) 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Mature adipose tissue enveloped in collagenous fibrous sheaths 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: