Trichodysplasia-Xeroderma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare skin diseases

External Ids:

OMIM ⁵⁶ 190360

UMLS via Orphanet ⁷² C1860822

Orphanet ⁵⁸ ORPHA3361

MedGen ⁴¹ C1860822

SNOMED-CT via HPO ⁶⁸ 16386004 17170005 22486004 more

UMLS ⁷¹ C1860822

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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

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Related Diseases for Trichodysplasia-Xeroderma

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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

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Drugs & Therapeutics for Trichodysplasia-Xeroderma

Search Clinical Trials , NIH Clinical Center for Trichodysplasia-Xeroderma

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Genetic Tests for Trichodysplasia-Xeroderma

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Anatomical Context for Trichodysplasia-Xeroderma

MalaCards organs/tissues related to Trichodysplasia-Xeroderma:

⁴⁰

Skin

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Publications for Trichodysplasia-Xeroderma

Articles related to Trichodysplasia-Xeroderma:

#	Title	Authors	PMID	Year
1	Trichodysplasia-xeroderma: an autosomal dominant condition. ⁶¹ ⁵⁶	Pinheiro M...Freire-Maia N	3608221	1987

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Genes for Trichodysplasia-Xeroderma

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Variations for Trichodysplasia-Xeroderma

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Expression for Trichodysplasia-Xeroderma

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

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Pathways for Trichodysplasia-Xeroderma

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GO Terms for Trichodysplasia-Xeroderma

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Sources for Trichodysplasia-Xeroderma

¹ BioSystems

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²⁰ GeneAnalytics

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²⁷ GEO DataSets

²⁸ GO

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³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

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⁴⁰ MalaCards

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⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

MCID: TRC111 MIFTS: 14	Trichodysplasia-Xeroderma Categories: Rare diseases, Skin diseases
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