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 58 30
Hair Morphology 1, Hair Thickness 58 6
Hair Thickness, Variation in 58
Hrm1 58

Classifications:



External Ids:

OMIM 58 612630

Summaries for Hair Morphology 1

MalaCards based summary : Hair Morphology 1, also known as hair morphology 1, hair thickness, is related to hypohidrotic ectodermal dysplasia autosomal recessive. An important gene associated with Hair Morphology 1 is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways is Cytokine Signaling in Immune system. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Description from OMIM: 612630

Related Diseases for Hair Morphology 1

Diseases in the Hair Morphology 1 family:

Hair Morphology 2

Diseases related to Hair Morphology 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypohidrotic ectodermal dysplasia autosomal recessive 9.5 EDAR RANBP2

Symptoms & Phenotypes for Hair Morphology 1

Clinical features from OMIM:

612630

GenomeRNAi Phenotypes related to Hair Morphology 1 according to GeneCards Suite gene sharing:

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.77 RANBP2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.77 EDAR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.77 EDAR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.77 EDAR
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.77 RANBP2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.77 EDAR RANBP2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.77 RANBP2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.77 RANBP2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.77 EDAR
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.77 RANBP2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.77 EDAR
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.77 EDAR
13 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 8.62 EDAR RANBP2

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 30 EDAR

Anatomical Context for Hair Morphology 1

Publications for Hair Morphology 1

Variations for Hair Morphology 1

ClinVar genetic disease variations for Hair Morphology 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EDAR NM_022336.3(EDAR): c.1109T> C (p.Val370Ala) single nucleotide variant Benign rs3827760 GRCh37 Chromosome 2, 109513601: 109513601
2 EDAR NM_022336.3(EDAR): c.1109T> C (p.Val370Ala) single nucleotide variant Benign rs3827760 GRCh38 Chromosome 2, 108897145: 108897145

Expression for Hair Morphology 1

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

Pathways for Hair Morphology 1

Pathways related to Hair Morphology 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.73 EDAR RANBP2

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....