Trait
Skin degeneration
Clinical name: Dermal atrophy
Partial or complete wasting (atrophy) of the skin.
Summary
- Also called
- Atrophic skin, Skin atrophy
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Skin degeneration 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 |
|---|---|---|
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Always | In 3 conditions |
| FERMT1FERM domain containing kindlin 1 | Always | In 1 condition |
| KLHL24kelch like family member 24 | Always | In 1 condition |
| WRNWRN RecQ like helicase | Always | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Always | In 4 conditions |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Very often (80–99%) | In 1 condition |
| CHD6chromodomain helicase DNA binding protein 6 | Very often (80–99%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Very often (80–99%) | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Very often (80–99%) | In 2 conditions |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Very often (80–99%) | In 3 conditions |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Very often (80–99%) | In 3 conditions |
| ERCC5ERCC excision repair 5, endonuclease | Very often (80–99%) | In 2 conditions |
| HCCSholocytochrome c synthase | Very often (80–99%) | In 1 condition |
| LMNAlamin A/C | Very often (80–99%) | In 4 conditions |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Very often (80–99%) | In 1 condition |
| PARNpoly(A)-specific ribonuclease | Very often (80–99%) | In 1 condition |
| RTEL1regulator of telomere elongation helicase 1 | Very often (80–99%) | In 1 condition |
| TERCtelomerase RNA component | Very often (80–99%) | In 2 conditions |
| TERTtelomerase reverse transcriptase | Very often (80–99%) | In 2 conditions |
| TINF2TERF1 interacting nuclear factor 2 | Very often (80–99%) | In 3 conditions |
| ANAPC1anaphase promoting complex subunit 1 | Often (30–79%) | In 1 condition |
| COL7A1collagen type VII alpha 1 chain | Often (30–79%) | In 2 conditions |
| DDB2damage specific DNA binding protein 2 | Often (30–79%) | In 2 conditions |
| PLECplectin | Often (30–79%) | In 1 condition |
| POLHDNA polymerase eta | Often (30–79%) | In 2 conditions |
| RECQL4RecQ like helicase 4 | Often (30–79%) | In 3 conditions |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| XPAXPA, DNA damage recognition and repair factor | Often (30–79%) | In 2 conditions |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Often (30–79%) | In 2 conditions |
| DHCR2424-dehydrocholesterol reductase | Sometimes (5–29%) | In 1 condition |
| MGPmatrix Gla protein | Sometimes (5–29%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Sometimes (5–29%) | In 1 condition |
| SOX18SRY-box transcription factor 18 | Sometimes (5–29%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Not recorded | In 2 conditions |
| POLD1DNA polymerase delta 1, catalytic subunit | Not recorded | In 1 condition |
| PORCNporcupine O-acyltransferase | Not recorded | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Not recorded | In 1 condition |
| TP63tumor protein p63 | Not recorded | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | 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.
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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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