ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 101840
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:0200034) Papule 12 / 7739
2
(HPO:0002213) Fine hair 77 / 7739
3
(HPO:0200035) Skin plaque 2 / 7739
4
(HPO:0012393) Allergy 3 / 7739
5
(OMIM) Skin lesions show orthohypergranulosis, acanthosis, and a relatively normal dermis 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Atopic diathesis 1 / 7739
8
(OMIM) Persistent, asymptomatic, yellowish-white, translucent papules and plaques of hands and feet 1 / 7739
9
(OMIM) Fine-textured scalp hair 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Onwukwe et al. (1973) described a family in which multiple members of 4 generations and by inference a fifth, in a pattern consistent with autosomal dominant inheritance (including male-to-male transmission), had persistent, asymptomatic, yellowish-white, translucent papules and plaques ...