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Trait

Uplifted earlobe

An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.

HPO HP:0009909

Summary

Also called
Lobe, uplifted, Uplifted earlobes, Upturned earlobe, Upturned earlobes, Fleshy upturned lobules
Body system
Abnormality of the ear

13 condition reports read genes linked to this trait

Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.

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28 genes linked to Uplifted earlobe

Changes in these genes cause rare conditions in which Uplifted earlobe 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
JKAMPJNK1/MAPK8 associated membrane proteinAlwaysIn 1 condition
PIGAphosphatidylinositol glycan anchor biosynthesis class AAlwaysIn 1 condition
PIGQphosphatidylinositol glycan anchor biosynthesis class QAlwaysIn 1 condition
BUB1BUB1 mitotic checkpoint serine/threonine kinaseOften (30–79%)In 1 condition
CACHD1cache domain containing 1Often (30–79%)In 1 condition
ERI1exoribonuclease 1Often (30–79%)In 1 condition
PIGBphosphatidylinositol glycan anchor biosynthesis class BOften (30–79%)In 1 condition
PIGLphosphatidylinositol glycan anchor biosynthesis class LOften (30–79%)In 1 condition
SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1Often (30–79%)In 1 condition
TBL1XR1TBL1X/Y related 1Often (30–79%)In 1 condition
TWIST1twist family bHLH transcription factor 1Often (30–79%)In 1 condition
ZEB2zinc finger E-box binding homeobox 2Often (30–79%)In 3 conditions
AHDC1AT-hook DNA binding motif containing 1Sometimes (5–29%)In 2 conditions
CDC42BPBCDC42 binding protein kinase betaSometimes (5–29%)In 1 condition
EHMT1euchromatic histone lysine methyltransferase 1Sometimes (5–29%)In 1 condition
GRIA3glutamate ionotropic receptor AMPA type subunit 3Sometimes (5–29%)In 1 condition
KMT2Clysine methyltransferase 2CSometimes (5–29%)In 1 condition
MAPRE2microtubule associated protein RP/EB family member 2Sometimes (5–29%)In 1 condition
MED25mediator complex subunit 25Sometimes (5–29%)In 1 condition
NR2F1nuclear receptor subfamily 2 group F member 1Sometimes (5–29%)In 1 condition
SIN3ASIN3 transcription regulator family member ASometimes (5–29%)In 1 condition
SLC32A1solute carrier family 32 member 1Sometimes (5–29%)In 1 condition
SRRM2serine/arginine repetitive matrix 2Sometimes (5–29%)In 1 condition
WWOXWW domain containing oxidoreductaseSometimes (5–29%)In 1 condition
BMP4bone morphogenetic protein 4Not recordedIn 1 condition
HDAC8histone deacetylase 8Not recordedIn 1 condition
IL1RAPL1interleukin 1 receptor accessory protein like 1Not recordedIn 1 condition
LAS1LLAS1 like ribosome biogenesis factorNot 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.

Broader traits

Abnormal earlobe

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 2026.10.19-9814e911.

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