MCID: HRM022
MIFTS: 12

Hair Morphology 1

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, 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 9.0 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:

26 (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, decreased TP53 protein expression ratio (wild-type / 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 29 EDAR

Anatomical Context for Hair Morphology 1

Publications for Hair Morphology 1

Variations for Hair Morphology 1

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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