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 ⁵⁸ ⁷⁴

Trichodysplasia-Xeroderma Syndrome ⁶⁰

Trichodysplasia Xeroderma ⁵⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

trichodysplasia-xeroderma:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare skin diseases

External Ids:

OMIM ⁵⁸ 190360

UMLS via Orphanet ⁷⁵ C1860822

Orphanet ⁶⁰ ORPHA3361

MedGen ⁴³ C1860822

SNOMED-CT via HPO ⁷⁰ 16386004 17170005 22486004 more

UMLS ⁷⁴ 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

Description 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:

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

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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:

⁴²

Skin

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Publications for Trichodysplasia-Xeroderma

Articles related to Trichodysplasia-Xeroderma:

#	Title	Authors	Year
1	Trichodysplasia-xeroderma: an autosomal dominant condition. ( 3608221 )	Pinheiro M...Freire-Maia N	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

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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¹³ diseasecard

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

MCID: TRC111 MIFTS: 16	Trichodysplasia-Xeroderma Categories: Rare diseases, Skin diseases
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