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 56 71
Trichodysplasia-Xeroderma Syndrome 58
Trichodysplasia Xeroderma 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
trichodysplasia-xeroderma:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 190360
UMLS via Orphanet 72 C1860822
Orphanet 58 ORPHA3361
MedGen 41 C1860822
UMLS 71 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:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
2 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
3 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
4 trichorrhexis nodosa 58 31 hallmark (90%) Very frequent (99-80%) HP:0009886
5 pili torti 58 31 hallmark (90%) Very frequent (99-80%) HP:0003777
6 brittle hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002299
7 trichodysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002552
8 sparse and thin eyebrow 31 hallmark (90%) HP:0000535
9 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
10 sparse body hair 58 31 frequent (33%) Frequent (79-30%) HP:0002231
11 sparse hair 31 HP:0008070
12 slow-growing hair 31 HP:0002217
13 sparse eyebrow 58 Very frequent (99-80%)
14 sparse eyelashes 31 HP:0000653
15 sparse axillary hair 31 HP:0002215
16 sparse pubic hair 31 HP:0002225
17 dry hair 31 HP:0011359

Symptoms via clinical synopsis from OMIM:

56
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:

40
Skin

Publications for Trichodysplasia-Xeroderma

Articles related to Trichodysplasia-Xeroderma:

# Title Authors PMID Year
1
Trichodysplasia-xeroderma: an autosomal dominant condition. 61 56
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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