Darier disease

General Information (adopted from Orphanet):

Synonyms, Signs: DARIER DISEASE, SEGMENTAL, INCLUDED
DARIER DISEASE
DD DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED
DAR
keratosis follicularis
Darier-White disease
Number of Symptoms 35
OrphanetNr: 218
OMIM Id: 124200
ICD-10: Q82.8
UMLs: C0022595
MeSH: D007644
MedDRA: 10023369
Snomed: 48611009

Prevalence, inheritance and age of onset:

Prevalence: 2 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Other epidermis disorder
 -Rare skin disease
Other genetic epidermal disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011830) Abnormality of oral mucosa Frequent [Orphanet] 47 / 7739
2
 (HPO:0011801) Enlargement of parotid gland 1 / 7739
3
 (HPO:0001256) Intellectual disability, mild 141 / 7739
4
 (HPO:0007302) Bipolar affective disorder 15 / 7739
5
 (HPO:0100753) Schizophrenia 20 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0010610) Palmar pits 3 / 7739
8
 (HPO:0001595) Abnormality of the hair Frequent [Orphanet] 89 / 7739
9
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
10
 (HPO:0001000) Abnormality of skin pigmentation Frequent [Orphanet] 105 / 7739
11
 (HPO:0200016) Acrokeratosis 4 / 7739
12
 (HPO:0000989) Pruritus Very frequent [Orphanet] 111 / 7739
13
 (HPO:0001807) Ridged nail 20 / 7739
14
 (HPO:0200037) Skin vesicle Occasional [Orphanet] 102 / 7739
15
 (HPO:0001072) Thickened skin Frequent [Orphanet] 87 / 7739
16
 (HPO:0001034) Hypermelanotic macule rare [HPO:skoehler] 22 / 7739
17
 (HPO:0010612) Plantar pits 2 / 7739
18
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
19
 (HPO:0008410) Subungual hyperkeratotic fragments 1 / 7739
20
 (OMIM) Keratotic plaque (in some patients) 2 / 7739
21
 (OMIM) Acrokeratosis verruciformis-like lesions on dorsum of hands 1 / 7739
22
 (MedDRA:10025421) Macule Occasional [Orphanet] 55 / 7739
23
 (OMIM) Acantholysis (cell separation) in the suprabasal layer of the epidermis with premature differentiation and hyperkeratinization of the epidermis 1 / 7739
24
 (OMIM) Odoriferous,, hypertrophic plaques 1 / 7739
25
 (OMIM) Distal V-shaped notching 2 / 7739
26
 (OMIM) Longitudinal white or red subungual streaks 1 / 7739
27
 (OMIM) Fingernails involved more often than toenails 1 / 7739
28
 (OMIM) Oral mucosal lesions 2 / 7739
29
 (OMIM) Loss of desmosomal attachments and perinuclear aggregation of keratin filaments 1 / 7739
30
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
31
 (OMIM) Brown, warty keratotic papules (trunk, scalp, forehead, flexural areas) 1 / 7739
32
 (OMIM) Hemorrhagic palmar and plantar macules (uncommon) 1 / 7739
33
 (OMIM) Recurrent parotid gland swelling 1 / 7739
34
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
35
 (OMIM) Nail fragility 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Darier-White disease, also known as keratosis follicularis, is an autosomal dominant skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead), palmoplantar pits, and distinctive nail abnormalities (Sakuntabhai et al., 1999). ...
Clinical Description OMIM Hitch et al. (1941) reported a family with affected members in 5 generations. See acrokeratosis verruciformis (101900) for discussion of phenotypic overlap with that condition. When bullous lesions are present, the condition is difficult to distinguish from benign ...
Molecular genetics OMIM Monk et al. (1998) constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DAR candidate region on 12q23-q24.1. Using a combination of EST database searching, cDNA selection, and sequence analysis of bacterial clones of the contig, Sakuntabhai et ...