MCID: TRC111
MIFTS: 16

Trichodysplasia-Xeroderma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Trichodysplasia-Xeroderma

MalaCards integrated aliases for Trichodysplasia-Xeroderma:

Name: Trichodysplasia-Xeroderma 58 74
Trichodysplasia-Xeroderma Syndrome 60
Trichodysplasia Xeroderma 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
trichodysplasia-xeroderma:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 190360
UMLS via Orphanet 75 C1860822
Orphanet 60 ORPHA3361
MedGen 43 C1860822
UMLS 74 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

Description from OMIM: 190360

Related Diseases for Trichodysplasia-Xeroderma

Symptoms & Phenotypes for Trichodysplasia-Xeroderma

Human phenotypes related to Trichodysplasia-Xeroderma:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002208
2 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
3 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
4 trichorrhexis nodosa 60 33 hallmark (90%) Very frequent (99-80%) HP:0009886
5 pili torti 60 33 hallmark (90%) Very frequent (99-80%) HP:0003777
6 brittle hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002299
7 trichodysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002552
8 sparse and thin eyebrow 33 hallmark (90%) HP:0000535
9 alopecia 60 33 frequent (33%) Frequent (79-30%) HP:0001596
10 sparse body hair 60 33 frequent (33%) Frequent (79-30%) HP:0002231
11 hypotrichosis 33 HP:0001006
12 slow-growing hair 33 HP:0002217
13 sparse eyebrow 60 Very frequent (99-80%)
14 sparse eyelashes 33 HP:0000653
15 sparse pubic hair 33 HP:0002225
16 sparse axillary hair 33 HP:0002215
17 dry hair 33 HP:0011359

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

Publications for Trichodysplasia-Xeroderma

Articles related to Trichodysplasia-Xeroderma:

# Title Authors Year
1
Trichodysplasia-xeroderma: an autosomal dominant condition. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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