MCID: TRC111
MIFTS: 14

Trichodysplasia-Xeroderma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Trichodysplasia-Xeroderma

MalaCards integrated aliases for Trichodysplasia-Xeroderma:

Name: Trichodysplasia-Xeroderma 57 72
Trichodysplasia-Xeroderma Syndrome 59
Trichodysplasia Xeroderma 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
trichodysplasia-xeroderma:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 190360
UMLS via Orphanet 73 C1860822
Orphanet 59 ORPHA3361
MedGen 42 C1860822
UMLS 72 C1860822

Summaries for Trichodysplasia-Xeroderma

MalaCards based summary : Trichodysplasia-Xeroderma, is also known as trichodysplasia-xeroderma syndrome. Affiliated tissues include skin, and related phenotypes are coarse hair and dry skin

More information from OMIM: 190360

Related Diseases for Trichodysplasia-Xeroderma

Symptoms & Phenotypes for Trichodysplasia-Xeroderma

Human phenotypes related to Trichodysplasia-Xeroderma:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002208
2 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
3 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
4 trichorrhexis nodosa 59 32 hallmark (90%) Very frequent (99-80%) HP:0009886
5 pili torti 59 32 hallmark (90%) Very frequent (99-80%) HP:0003777
6 brittle hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002299
7 trichodysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002552
8 sparse and thin eyebrow 32 hallmark (90%) HP:0000535
9 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
10 sparse body hair 59 32 frequent (33%) Frequent (79-30%) HP:0002231
11 hypotrichosis 32 HP:0001006
12 slow-growing hair 32 HP:0002217
13 sparse eyebrow 59 Very frequent (99-80%)
14 sparse eyelashes 32 HP:0000653
15 sparse axillary hair 32 HP:0002215
16 sparse pubic hair 32 HP:0002225
17 dry hair 32 HP:0011359

Symptoms via clinical synopsis from OMIM:

57
Skin:
dry skin
xeroderma

Lab:
pili torti, scaling, and dystrophic hair bulbs on em

Hair:
alopecia
hypotrichosis
trichorrhexis nodosa
pili torti
trichodysplasia
more

Clinical features from OMIM:

190360

Drugs & Therapeutics for Trichodysplasia-Xeroderma

Search Clinical Trials , NIH Clinical Center for Trichodysplasia-Xeroderma

Genetic Tests for Trichodysplasia-Xeroderma

Anatomical Context for Trichodysplasia-Xeroderma

MalaCards organs/tissues related to Trichodysplasia-Xeroderma:

41
Skin

Publications for Trichodysplasia-Xeroderma

Articles related to Trichodysplasia-Xeroderma:

# Title Authors PMID Year
1
Trichodysplasia-xeroderma: an autosomal dominant condition. 38 8
3608221 1987

Variations for Trichodysplasia-Xeroderma

Expression for Trichodysplasia-Xeroderma

Search GEO for disease gene expression data for Trichodysplasia-Xeroderma.

Pathways for Trichodysplasia-Xeroderma

GO Terms for Trichodysplasia-Xeroderma

Sources for Trichodysplasia-Xeroderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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