Hereditary progressive mucinous histiocytosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr: 158025
OMIM Id: 142630
ICD-10: D76.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 13 cases [Orphanet]
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Non-Langerhans cell histiocytosis
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0008069) Neoplasm of the skin 84 / 7739
2
(HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
3
(OMIM) Generalized maximally pea-sized histiocytic skin tumors 1 / 7739
4
(HPO:0040138) Mucinous histiocytosis 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bork and Hoede (1988) described 3 patients, 2 sisters and the daughter of 1, who suffered from generalized and maximally pea-sized histiocytic tumors beginning in early adolescence. The disorder ran a uniform, slowly progressive course and was confined ...