Leukonychia totalis

General Information (adopted from Orphanet):

Synonyms, Signs: LEUKONYCHIA PUNCTATA, INCLUDED
LEUKONYCHIA TOTALIS AND/OR PARTIALIS
PORCELAIN NAILS LEUKONYCHIA STRIATUS, INCLUDED
NDNC3
Number of Symptoms 17
OrphanetNr: 2387
OMIM Id: 151600
ICD-10: Q84.4
UMLs: C0544855
MeSH: C535889
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated nail anomaly
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000787) Nephrolithiasis Very frequent [Orphanet] 78 / 7739
2
(HPO:0000498) Blepharitis Frequent [Orphanet] 27 / 7739
3
(HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
4
(HPO:0009720) Adenoma sebaceum Very frequent [Orphanet] 12 / 7739
5
(HPO:0000613) Photophobia Frequent [Orphanet] 158 / 7739
6
(HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
7
(HPO:0005978) Type II diabetes mellitus Occasional [Orphanet] 68 / 7739
8
(HPO:0001598) Concave nail 14 / 7739
9
(HPO:0001820) Leukonychia 18 / 7739
10
(HPO:0008388) Abnormality of the toenails Very frequent [Orphanet] 28 / 7739
11
(HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
12
(OMIM) Leukonychia striata 1 / 7739
13
(OMIM) Leukonychia partialis 1 / 7739
14
(OMIM) Leukonychia totalis 1 / 7739
15
(OMIM) Leukonychia punctata 1 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) A white appearance of the nails can result from whitening of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia), and can be due to a variety of factors including infectious, metabolic, or systemic ...
Clinical Description OMIM Sibley (1922) reported a 57-year-old woman with a 13-year history of psoriasis who presented with marked white bands on most of her fingernails, especially the thumbnails where some 6 distinct bands were observed. There were no bands on ...
Molecular genetics OMIM In affected members of 4 Pakistani families with leukonychia totalis mapping to chromosome 3p22-21.3, 2 of which demonstrated autosomal recessive inheritance and 2 of which were consistent with autosomal dominant inheritance, Kiuru et al. (2011) analyzed candidate genes ...