MCID: TRC111
MIFTS: 17

Trichodysplasia-Xeroderma

Categories: Eye diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Trichodysplasia-Xeroderma

MalaCards integrated aliases for Trichodysplasia-Xeroderma:

Name: Trichodysplasia-Xeroderma 57 71
Trichodysplasia-Xeroderma Syndrome 58
Trichodysplasia Xeroderma 19

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Trichodysplasia-Xeroderma Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Trichodysplasia-Xeroderma Syndrome: Neonatal 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 190360
UMLS via Orphanet 72 C1860822
Orphanet 58 ORPHA3361
MedGen 40 C1860822
UMLS 71 C1860822

Summaries for Trichodysplasia-Xeroderma

GARD: 19 Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.

MalaCards based summary: Trichodysplasia-Xeroderma, also known as trichodysplasia-xeroderma syndrome, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. Affiliated tissues include skin, and related phenotypes are coarse hair and dry skin

Orphanet: 58 Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.

More information from OMIM: 190360

Related Diseases for Trichodysplasia-Xeroderma

Diseases related to Trichodysplasia-Xeroderma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1

Symptoms & Phenotypes for Trichodysplasia-Xeroderma

Human phenotypes related to Trichodysplasia-Xeroderma:

58 30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002208
2 dry skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000958
3 sparse scalp hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002209
4 trichorrhexis nodosa 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009886
5 sparse eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0045075
6 pili torti 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003777
7 brittle hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002299
8 trichodysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002552
9 alopecia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001596
10 sparse body hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002231

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

Drugs & Therapeutics for Trichodysplasia-Xeroderma

Search Clinical Trials, NIH Clinical Center for Trichodysplasia-Xeroderma

Genetic Tests for Trichodysplasia-Xeroderma

Anatomical Context for Trichodysplasia-Xeroderma

Organs/tissues related to Trichodysplasia-Xeroderma:

MalaCards : Skin

Publications for Trichodysplasia-Xeroderma

Articles related to Trichodysplasia-Xeroderma:

# Title Authors PMID Year
1
Trichodysplasia-xeroderma: an autosomal dominant condition. 62 57
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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