Hypotrichosis 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hypotrichosis 4

MalaCards integrated aliases for Hypotrichosis 4:

Name: Hypotrichosis 4 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶

Marie Unna Hereditary Hypotrichosis 1 ⁵⁷ ¹² ⁷³

Hypt4 ⁵⁷ ¹² ⁷⁵

Muhh1 ⁵⁷ ¹² ⁷⁵

Hypotrichosis, Marie Unna Type, 1 ⁵⁷ ¹²

Hypotrichosis, Hereditary, Marie Unna Type, 1 ¹³

Marie Unna Hereditary Hypotrichosis 1; Muhh1 ⁵⁷

Marie Unna Hereditary Hypotrichosis Type 1 ⁷⁵

Hypotrichosis Marie Unna 1 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

hypotrichosis 4:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 146550

Disease Ontology ¹² DOID:0110701

MedGen ⁴² C2750815

MeSH ⁴⁴ D007039

SNOMED-CT via HPO ⁶⁹ 263681008 53602002 56558005 more

UMLS ⁷³ C2750815

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Summaries for Hypotrichosis 4

UniProtKB/Swiss-Prot : ⁷⁵ Hypotrichosis 4: An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood.

MalaCards based summary : Hypotrichosis 4, also known as marie unna hereditary hypotrichosis 1, is related to hypotrichosis 1 and hypotrichosis. An important gene associated with Hypotrichosis 4 is HR (HR, Lysine Demethylase And Nuclear Receptor Corepressor). Related phenotypes are sparse and thin eyebrow and sparse eyelashes

Disease Ontology : ¹² A hypotrichosis that has material basis in a autosomal dominant mutation of HR on chromosome 8p21.3.

Description from OMIM: 146550

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Related Diseases for Hypotrichosis 4

Diseases in the Hypotrichosis family:

Hypotrichosis 2	Hypotrichosis 4
Hypotrichosis 8	Hypotrichosis 7
Hypotrichosis 1	Hypotrichosis 6
Hypotrichosis 5	Hypotrichosis 3
Hypotrichosis 9	Hypotrichosis 10
Hypotrichosis 11	Hypotrichosis 12
Hypotrichosis 13

Diseases related to Hypotrichosis 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	hypotrichosis 1	10.2
2	hypotrichosis	10.2

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Symptoms & Phenotypes for Hypotrichosis 4

Symptoms via clinical synopsis from OMIM:

⁵⁷

Hair:
hypotrichosis
alopecia
little or no eyebrows, eyelashes or body hair
coarse, wiry, twisted hair in early childhood

Clinical features from OMIM:

146550

Human phenotypes related to Hypotrichosis 4:

³² (show all 6)

#	Description	HPO Source Accession
1	sparse and thin eyebrow ³²	HP:0000535
2	sparse eyelashes ³²	HP:0000653
3	hypotrichosis ³²	HP:0001006
4	alopecia ³²	HP:0001596
5	sparse body hair ³²	HP:0002231
6	pili torti ³²	HP:0003777

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Drugs & Therapeutics for Hypotrichosis 4

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 4

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Genetic Tests for Hypotrichosis 4

Genetic tests related to Hypotrichosis 4:

#	Genetic test	Affiliating Genes
1	Hypotrichosis 4 ²⁹	HR

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Anatomical Context for Hypotrichosis 4

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Publications for Hypotrichosis 4

Articles related to Hypotrichosis 4:

#	Title	Authors	Year
1	A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities. ( 22584530 )	Farkas K....SzAcll M.	2012

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Genes for Hypotrichosis 4

Genes related to Hypotrichosis 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HR	HR, Lysine Demethylase And Nuclear Receptor Corepressor	Protein Coding	1027	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	10777357 19122663 11069461 (more) 17680008 19897589 10854110 20814945

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Variations for Hypotrichosis 4

ClinVar genetic disease variations for Hypotrichosis 4:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HR	NM_005144.4(HR): c.-320T> C	single nucleotide variant	Pathogenic	rs387906382	GRCh37	Chromosome 8, 21988220: 21988220
2	HR	NM_005144.4(HR): c.-320T> C	single nucleotide variant	Pathogenic	rs387906382	GRCh38	Chromosome 8, 22130707: 22130707
3	HR	NM_005144.4(HR): c.-315C> T	single nucleotide variant	Pathogenic	rs267606867	GRCh37	Chromosome 8, 21988215: 21988215
4	HR	NM_005144.4(HR): c.-315C> T	single nucleotide variant	Pathogenic	rs267606867	GRCh38	Chromosome 8, 22130702: 22130702
5	HR	NM_005144.4(HR): c.-249C> G	single nucleotide variant	Pathogenic	rs267606868	GRCh37	Chromosome 8, 21988149: 21988149
6	HR	NM_005144.4(HR): c.-249C> G	single nucleotide variant	Pathogenic	rs267606868	GRCh38	Chromosome 8, 22130636: 22130636
7	HR	NM_005144.4(HR): c.-218A> G	single nucleotide variant	Pathogenic	rs267606869	GRCh37	Chromosome 8, 21988118: 21988118
8	HR	NM_005144.4(HR): c.-218A> G	single nucleotide variant	Pathogenic	rs267606869	GRCh38	Chromosome 8, 22130605: 22130605

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Expression for Hypotrichosis 4

Search GEO for disease gene expression data for Hypotrichosis 4.

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Pathways for Hypotrichosis 4

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GO Terms for Hypotrichosis 4

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Sources for Hypotrichosis 4

¹ BioSystems

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²⁵ Genetics Home Reference

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

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⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia