Trait

Abnormal of nasal shape

Clinical name: Abnormal nasal morphology

HPO HP:0005105

Also called: Abnormal of shape of nose, Abnormal nose morphology, Abnormal of morphology of nose
Body system: Abnormality of head or neck

Reference genomeGRCh38hg38

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37 genes linked to Abnormal of nasal shape

Changes in these genes cause rare conditions in which Abnormal of nasal shape 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
CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex	Always	In 1 condition
CITED2Cbp/p300 interacting transactivator with ED-rich tail 2	Very often (80–99%)	In 1 condition
ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit	Very often (80–99%)	In 1 condition
ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit	Very often (80–99%)	In 1 condition
ERCC5ERCC excision repair 5, endonuclease	Very often (80–99%)	In 1 condition
ERCC6ERCC excision repair 6, chromatin remodeling factor	Very often (80–99%)	In 1 condition
FLT4fms related receptor tyrosine kinase 4	Very often (80–99%)	In 1 condition
GATA4GATA binding protein 4	Very often (80–99%)	In 1 condition
GATA5GATA binding protein 5	Very often (80–99%)	In 1 condition
GATA6GATA binding protein 6	Very often (80–99%)	In 1 condition
GDF1growth differentiation factor 1	Very often (80–99%)	In 1 condition
GJA5gap junction protein alpha 5	Very often (80–99%)	In 1 condition
JAG1jagged canonical Notch ligand 1	Very often (80–99%)	In 1 condition
KDRkinase insert domain receptor	Very often (80–99%)	In 1 condition
NKX2-5NK2 homeobox 5	Very often (80–99%)	In 1 condition
NKX2-6NK2 homeobox 6	Very often (80–99%)	In 1 condition
TBX1T-box transcription factor 1	Very often (80–99%)	In 1 condition
ZFPM2zinc finger protein, FOG family member 2	Very often (80–99%)	In 1 condition
AKT3AKT serine/threonine kinase 3	Often (30–79%)	In 1 condition
CCND2cyclin D2	Often (30–79%)	In 1 condition
FRAS1Fraser extracellular matrix complex subunit 1	Often (30–79%)	In 1 condition
FREM2FRAS1 related extracellular matrix 2	Often (30–79%)	In 1 condition
GRIP1glutamate receptor interacting protein 1	Often (30–79%)	In 1 condition
IRF6interferon regulatory factor 6	Often (30–79%)	In 1 condition
MSX1msh homeobox 1	Often (30–79%)	In 1 condition
NECTIN1nectin cell adhesion molecule 1	Often (30–79%)	In 1 condition
PIK3R2phosphoinositide-3-kinase regulatory subunit 2	Often (30–79%)	In 1 condition
SF3B4splicing factor 3b subunit 4	Often (30–79%)	In 1 condition
TP63tumor protein p63	Often (30–79%)	In 1 condition
AHSGalpha 2-HS glycoprotein	Sometimes (5–29%)	In 1 condition
COLEC10collectin subfamily member 10	Sometimes (5–29%)	In 1 condition
COLEC11collectin subfamily member 11	Sometimes (5–29%)	In 1 condition
ITGB6integrin subunit beta 6	Sometimes (5–29%)	In 1 condition
LSSlanosterol synthase	Sometimes (5–29%)	In 1 condition
MASP1MBL associated serine protease 1	Sometimes (5–29%)	In 1 condition
MCOLN1mucolipin TRP cation channel 1	Sometimes (5–29%)	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.

Broader traits

Abnormality of the nose

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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