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Trait

Fragile skin

Skin that splits easily with minimal injury.

HPO HP:0001030

Summary

Also called
Skin fragility
Body system
Abnormality of the integument

40 genes linked to Fragile skin

Changes in these genes cause rare conditions in which Fragile skin 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.

GeneHow often it is seenConditions
ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2AlwaysIn 2 conditions
DSPdesmoplakinAlwaysIn 2 conditions
EXPH5exophilin 5AlwaysIn 1 condition
JUPjunction plakoglobinAlwaysIn 2 conditions
PDGFRBplatelet derived growth factor receptor betaAlwaysIn 1 condition
PKP1plakophilin 1AlwaysIn 2 conditions
PPOXprotoporphyrinogen oxidaseAlwaysIn 1 condition
ADAMTSL2ADAMTS like 2Very often (80–99%)In 1 condition
C1Scomplement C1sVery often (80–99%)In 2 conditions
COL17A1collagen type XVII alpha 1 chainVery often (80–99%)In 2 conditions
COL1A1collagen type I alpha 1 chainVery often (80–99%)In 2 conditions
COL5A1collagen type V alpha 1 chainVery often (80–99%)In 2 conditions
COL5A2collagen type V alpha 2 chainVery often (80–99%)In 2 conditions
COL7A1collagen type VII alpha 1 chainVery often (80–99%)In 12 conditions
GATA1GATA binding protein 1Very often (80–99%)In 1 condition
ITGB4integrin subunit beta 4Very often (80–99%)In 3 conditions
KRT14keratin 14Very often (80–99%)In 1 condition
KRT5keratin 5Very often (80–99%)In 1 condition
LAMA3laminin subunit alpha 3Very often (80–99%)In 2 conditions
LAMB3laminin subunit beta 3Very often (80–99%)In 1 condition
LAMC2laminin subunit gamma 2Very often (80–99%)In 1 condition
MMP1matrix metallopeptidase 1Very often (80–99%)In 1 condition
PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1Very often (80–99%)In 1 condition
TUFT1tuftelin 1Very often (80–99%)In 1 condition
URODuroporphyrinogen decarboxylaseVery often (80–99%)In 2 conditions
UROSuroporphyrinogen III synthaseVery often (80–99%)In 1 condition
C1Rcomplement C1rOften (30–79%)In 2 conditions
CASTcalpastatinOften (30–79%)In 1 condition
CHST14carbohydrate sulfotransferase 14Often (30–79%)In 2 conditions
COL1A2collagen type I alpha 2 chainOften (30–79%)In 2 conditions
DSEdermatan sulfate epimeraseOften (30–79%)In 1 condition
PLECplectinOften (30–79%)In 4 conditions
PORCNporcupine O-acyltransferaseOften (30–79%)In 1 condition
CPOXcoproporphyrinogen oxidaseSometimes (5–29%)In 1 condition
B3GALT6beta-1,3-galactosyltransferase 6Not recordedIn 1 condition
COL3A1collagen type III alpha 1 chainNot recordedIn 1 condition
FERMT1FERM domain containing kindlin 1Not recordedIn 1 condition
ITGA3integrin subunit alpha 3Not recordedIn 1 condition
ITGA6integrin subunit alpha 6Not recordedIn 1 condition
PRKACAprotein kinase cAMP-activated catalytic subunit alphaNot recordedIn 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

Broader traits

Generalized abnormality of skin

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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