Trichodysplasia - xeroderma

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 24
OrphanetNr: 3361
OMIM Id: 190360
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: Syndromic hair shaft abnormality
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
2
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
3
 (HPO:0000653) Sparse eyelashes 58 / 7739
4
 (HPO:0002209) Sparse scalp hair 59 / 7739
5
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
6
 (HPO:0002552) Trichodysplasia 4 / 7739
7
 (HPO:0002225) Sparse pubic hair Frequent [Orphanet] 76 / 7739
8
 (HPO:0009886) Trichorrhexis nodosa 12 / 7739
9
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
10
 (HPO:0011359) Dry hair 16 / 7739
11
 (HPO:0002208) Coarse hair Very frequent [Orphanet] 58 / 7739
12
 (HPO:0002217) Slow-growing hair 22 / 7739
13
 (HPO:0002299) Brittle hair Very frequent [Orphanet] 52 / 7739
14
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
15
 (HPO:0002215) Sparse axillary hair 21 / 7739
16
 (HPO:0003777) Pili torti Very frequent [Orphanet] 24 / 7739
17
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
18
 (OMIM) Eyebrows irregularly sparse 1 / 7739
19
 (OMIM) Sparse, coarse, brittle, slow-growing, dry scalp hair 1 / 7739
20
 (OMIM) Eyelashes scanty and short 1 / 7739
21
 (OMIM) Absent beard 2 / 7739
22
 (OMIM) Pili torti, scaling, and dystrophic hair bulbs on EM 1 / 7739
23
 (MedDRA:10048218) Xeroderma 1 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: