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Trait
Abnormality of the hair
Clinical name: Abnormal hair morphology
An abnormality of the hair.
Summary
- Also called
- Abnormality of the hair shaft, Hair abnormality
- Body system
- Abnormality of the integument
Abnormality of the hairHP:0001595
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Read the genes linked to Abnormality of the hair, and the rest of your genome, with one test.
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Get my Genome Test58 genes linked to Abnormality of the hair
Changes in these genes cause rare conditions in which Abnormality of the hair is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ACSL4acyl-CoA synthetase long chain family member 4 | Very often (80–99%) | In 1 condition |
| AMMECR1AMMECR nuclear protein 1 | Very often (80–99%) | In 1 condition |
| ANTXR2ANTXR cell adhesion molecule 2 | Very often (80–99%) | In 1 condition |
| CSTBcystatin B | Very often (80–99%) | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Very often (80–99%) | In 1 condition |
| EDARectodysplasin A receptor | Very often (80–99%) | In 1 condition |
| EDARADDEDAR associated via death domain | Very often (80–99%) | In 1 condition |
| EVCEvC ciliary complex subunit 1 | Very often (80–99%) | In 1 condition |
| EVC2EvC ciliary complex subunit 2 | Very often (80–99%) | In 1 condition |
| GLI1GLI family zinc finger 1 | Very often (80–99%) | In 1 condition |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Very often (80–99%) | In 1 condition |
| LMNAlamin A/C | Very often (80–99%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Very often (80–99%) | In 1 condition |
| NBNnibrin | Very often (80–99%) | In 1 condition |
| PADI3peptidyl arginine deiminase 3 | Very often (80–99%) | In 1 condition |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Very often (80–99%) | In 1 condition |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Very often (80–99%) | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Very often (80–99%) | In 1 condition |
| TGM3transglutaminase 3 | Very often (80–99%) | In 1 condition |
| WNT10AWnt family member 10A | Very often (80–99%) | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Often (30–79%) | In 1 condition |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Often (30–79%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Often (30–79%) | In 1 condition |
| CDK4cyclin dependent kinase 4 | Often (30–79%) | In 1 condition |
| CDKN2Acyclin dependent kinase inhibitor 2A | Often (30–79%) | In 1 condition |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Often (30–79%) | In 1 condition |
| DSG1desmoglein 1 | Often (30–79%) | In 1 condition |
| DSPdesmoplakin | Often (30–79%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Often (30–79%) | In 1 condition |
| GJB3gap junction protein beta 3 | Often (30–79%) | In 1 condition |
| GJB4gap junction protein beta 4 | Often (30–79%) | In 1 condition |
| KDSR3-ketodihydrosphingosine reductase | Often (30–79%) | In 1 condition |
| KIF11kinesin family member 11 | Often (30–79%) | In 1 condition |
| KRT1keratin 1 | Often (30–79%) | In 1 condition |
| LHCGRluteinizing hormone/choriogonadotropin receptor | Often (30–79%) | In 1 condition |
| MC1Rmelanocortin 1 receptor | Often (30–79%) | In 1 condition |
| MGMTO-6-methylguanine-DNA methyltransferase | Often (30–79%) | In 1 condition |
| MITFmelanocyte inducing transcription factor | Often (30–79%) | In 1 condition |
| NOTCH3notch receptor 3 | Often (30–79%) | In 1 condition |
| PAX3paired box 3 | Often (30–79%) | In 1 condition |
Show 18 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PDGFRBplatelet derived growth factor receptor beta | Often (30–79%) | In 1 condition |
| POT1protection of telomeres 1 | Often (30–79%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Often (30–79%) | In 1 condition |
| TERF2IPTERF2 interacting protein | Often (30–79%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Often (30–79%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Often (30–79%) | In 1 condition |
| COL18A1collagen type XVIII alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| NEK9NIMA related kinase 9 | Sometimes (5–29%) | In 1 condition |
| OATornithine aminotransferase | Sometimes (5–29%) | In 1 condition |
| PAK2p21 (RAC1) activated kinase 2 | Sometimes (5–29%) | In 1 condition |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Not recorded | In 1 condition |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Not recorded | In 1 condition |
| ATMATM serine/threonine kinase | Not recorded | In 1 condition |
| DLX3distal-less homeobox 3 | Not recorded | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Not recorded | In 1 condition |
| SRD5A2steroid 5 alpha-reductase 2 | Not recorded | In 1 condition |
| SRD5A3steroid 5 alpha-reductase 3 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
- Abnormality of the eyebrow52 genes
- Abnormal eyelashes43 genes
- Abnormal hair quantity35 genes
- Abnormal hair pattern22 genes
- Abnormality of secondary sexual hair21 genes
- Abnormality of hair texture19 genes
- Abnormality of hair pigmentation2 genes
- Trichodysplasia2 genes
- Abnormal hairshaft morphology1 gene
- Abnormality of hair growth
- Abnormality of the scalp hair
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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