Trait

Abnormal skin structure

Clinical name: Abnormal skin morphology

Any morphological abnormality of the skin.

HPO HP:0011121

Also called: Abnormality of skin morphology
Body system: Abnormality of the integument

This page as data

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library(jsonlite)

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page <- fromJSON(url)
page$trait$name

Open the JSON

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32 genes linked to Abnormal skin structure

Changes in these genes cause rare conditions in which Abnormal skin structure 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
ALG8ALG8 alpha-1,3-glucosyltransferase	Often (30–79%)	In 1 condition
ARXaristaless related homeobox	Often (30–79%)	In 1 condition
BTNL2butyrophilin like 2	Often (30–79%)	In 1 condition
CDKL5cyclin dependent kinase like 5	Often (30–79%)	In 1 condition
CNPY3canopy FGF signaling regulator 3	Often (30–79%)	In 1 condition
CPOXcoproporphyrinogen oxidase	Often (30–79%)	In 1 condition
GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B	Often (30–79%)	In 1 condition
GUF1GTP binding elongation factor GUF1	Often (30–79%)	In 1 condition
HLA-DRB1major histocompatibility complex, class II, DR beta 1	Often (30–79%)	In 1 condition
NTRK2neurotrophic receptor tyrosine kinase 2	Often (30–79%)	In 1 condition
PHACTR1phosphatase and actin regulator 1	Often (30–79%)	In 1 condition
PIGAphosphatidylinositol glycan anchor biosynthesis class A	Often (30–79%)	In 1 condition
PLCB1phospholipase C beta 1	Often (30–79%)	In 1 condition
PRF1perforin 1	Often (30–79%)	In 1 condition
SCN2Asodium voltage-gated channel alpha subunit 2	Often (30–79%)	In 1 condition
SIK1salt inducible kinase 1	Often (30–79%)	In 1 condition
SKIC2SKI2 subunit of superkiller complex	Often (30–79%)	In 1 condition
SKIC3SKI3 subunit of superkiller complex	Often (30–79%)	In 1 condition
SPTAN1spectrin alpha, non-erythrocytic 1	Often (30–79%)	In 1 condition
STX11syntaxin 11	Often (30–79%)	In 1 condition
STXBP2syntaxin binding protein 2	Often (30–79%)	In 1 condition
UNC13Dunc-13 homolog D	Often (30–79%)	In 1 condition
WDR45WD repeat domain 45	Often (30–79%)	In 1 condition
ASXL1ASXL transcriptional regulator 1	Sometimes (5–29%)	In 1 condition
CBLCbl proto-oncogene	Sometimes (5–29%)	In 1 condition
RUNX1RUNX family transcription factor 1	Sometimes (5–29%)	In 1 condition
SRSF2serine and arginine rich splicing factor 2	Sometimes (5–29%)	In 1 condition
TET2tet methylcytosine dioxygenase 2	Sometimes (5–29%)	In 1 condition
HLA-DPB1major histocompatibility complex, class II, DP beta 1	Rarely (1–4%)	In 1 condition
ALADaminolevulinate dehydratase	Not recorded	In 1 condition
COL7A1collagen type VII alpha 1 chain	Not recorded	In 1 condition
HMBShydroxymethylbilane synthase	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.

Broader traits

Abnormality of the 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 2026.10.17-8666dff2.

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