HRM1
MCID: HRM022
MIFTS: 11

Hair Morphology 1 (HRM1)

Categories: Genetic diseases

Aliases & Classifications for Hair Morphology 1

MalaCards integrated aliases for Hair Morphology 1:

Name: Hair Morphology 1 57 29
Hair Morphology 1, Hair Thickness 57 6
Hair Thickness, Variation in 57
Hrm1 57

Classifications:



External Ids:

OMIM® 57 612630

Summaries for Hair Morphology 1

MalaCards based summary : Hair Morphology 1, is also known as hair morphology 1, hair thickness. An important gene associated with Hair Morphology 1 is EDAR (Ectodysplasin A Receptor).

More information from OMIM: 612630

Related Diseases for Hair Morphology 1

Diseases in the Hair Morphology 2 family:

Hair Morphology 1

Symptoms & Phenotypes for Hair Morphology 1

Clinical features from OMIM®:

612630 (Updated 20-May-2021)

Drugs & Therapeutics for Hair Morphology 1

Search Clinical Trials , NIH Clinical Center for Hair Morphology 1

Genetic Tests for Hair Morphology 1

Genetic tests related to Hair Morphology 1:

# Genetic test Affiliating Genes
1 Hair Morphology 1 29 EDAR

Anatomical Context for Hair Morphology 1

Publications for Hair Morphology 1

Articles related to Hair Morphology 1:

(show all 15)
# Title Authors PMID Year
1
Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form. 6 57
18561327 2008
2
A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia. 57 6
18704500 2008
3
A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. 6 57
18065779 2008
4
Current research on ethnic hair. 57
12789163 2003
5
Quantitative hair form variation in seven populations. 57
4713565 1973
6
Identification of opportunistic and nonopportunistic Exophiala species using high resolution melting analysis. 61
31977020 2020
7
Silver nanoparticles enhance the larvicidal toxicity of Photorhabdus and Xenorhabdus bacterial toxins: an approach to control the filarial vector, Culex pipiens. 61
33601813 2018
8
Larvicidal Activities of Indigenous Bacillus thuringiensis Isolates and Nematode Symbiotic Bacterial Toxins against the Mosquito Vector, Culex pipiens (Diptera: Culicidae). 61
29062851 2017
9
Molecular identification and genetic diversity among Photorhabdus and Xenorhabdus isolates. 61
28391470 2017
10
Evidence that the heme regulatory motifs in heme oxygenase-2 serve as a thiol/disulfide redox switch regulating heme binding. 61
17540772 2007
11
The heme activator protein Hap1 represses transcription by a heme-independent mechanism in Saccharomyces cerevisiae. 61
15654089 2005
12
Functional analysis of heme regulatory elements of the transcriptional activator Hap1. 61
10873649 2000
13
A new class of repression modules is critical for heme regulation of the yeast transcriptional activator Hap1. 61
10330173 1999
14
Human intestinal spirochetes are distinct from Serpulina hyodysenteriae. 61
8417025 1993
15
Mutations affecting RNA polymerase I-stimulated exchange and rDNA recombination in yeast. 61
2016045 1991

Variations for Hair Morphology 1

ClinVar genetic disease variations for Hair Morphology 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDAR NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) SNV association 5858 rs3827760 GRCh37: 2:109513601-109513601
GRCh38: 2:108897145-108897145

Expression for Hair Morphology 1

Search GEO for disease gene expression data for Hair Morphology 1.

Pathways for Hair Morphology 1

GO Terms for Hair Morphology 1

Sources for Hair Morphology 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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