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Traits

Traits linked to HERC2

HECT and RLD domain containing E3 ubiquitin protein ligase 2

The Human Phenotype Ontology links 106 traits to HERC2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Delayed ability to walkAlati
Delayed speech and language developmentAlati
Global developmental delayAlati
Intellectual disabilityAlati
Autism spectrum disorderVäga sageli (80–99%)
Motor delayVäga sageli (80–99%)
Self-injurious behaviorVäga sageli (80–99%)
Specific learning disabilityVäga sageli (80–99%)
Unsteady walkVäga sageli (80–99%)
Attention deficitSageli (30–79%)
Behavioral abnormalitySageli (30–79%)
Difficulty sleepingSageli (30–79%)
Excessive daytime sleepinessSageli (30–79%)
Impaired pain sensationSageli (30–79%)
Increased appetiteSageli (30–79%)
Pauses in breathing while sleepingSageli (30–79%)
Self-mutilationSageli (30–79%)
VentriculomegalySageli (30–79%)
AutismMõnikord (5–29%)
EpilepsyMõnikord (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)Mõnikord (5–29%)
Poor fine motor coordinationMõnikord (5–29%)
PsychosisMõnikord (5–29%)
Aggressive behaviorPole registreeritud
Echoing another person's speechPole registreeritud
More active than typicalPole registreeritud
Poor concentrationPole registreeritud
Poor gross motor coordinationPole registreeritud
Recurrent hand flappingPole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Almond shaped eyesSageli (30–79%)
Downturned corners of mouthSageli (30–79%)
Narrow foreheadSageli (30–79%)
Narrow nasal bridgeSageli (30–79%)
Thin red part of the upper lipSageli (30–79%)
Dental cavitiesMõnikord (5–29%)
Upward slanting of the opening between the eyelidsMõnikord (5–29%)
Asymmetry of the posterior headPole registreeritud
Big lower jawPole registreeritud
Long, narrow headPole registreeritud
Narrow palatePole registreeritud

Abnormality of limbs

TraitKui sageli seda täheldatakse
Narrow palmVäga sageli (80–99%)
Short footVäga sageli (80–99%)
Short palmVäga sageli (80–99%)
Radial deviation of fingerMõnikord (5–29%)
Webbed fingers or toesMõnikord (5–29%)
AcromicriaPole registreeritud
Curvature of digitPole registreeritud
Gap between 1st and 2nd toesPole registreeritud
Knock kneesPole registreeritud
Small handPole registreeritud

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
InfertilityVäga sageli (80–99%)
Underdevelopment of external reproductive organsVäga sageli (80–99%)
Undescended testesVäga sageli (80–99%)
Light or infrequent menstrual periodsSageli (30–79%)
Short penisSageli (30–79%)
Small clitorisSageli (30–79%)
Underdeveloped inner lipsSageli (30–79%)
Primary amenorrheaMõnikord (5–29%)
Smaller than typical growth of scrotumPole registreeritud

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Low muscle tone, in neonatal onsetAlati
Generalized decreased muscle toneVäga sageli (80–99%)
ScoliosisVäga sageli (80–99%)
Abnormal formation of the hipSageli (30–79%)
Decreased muscle massSageli (30–79%)
Hunched backSageli (30–79%)
OsteopeniaMõnikord (5–29%)
OsteoporosisMõnikord (5–29%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Decreased circulating high-density lipoprotein cholesterolSageli (30–79%)
Elevated serum cholesterolSageli (30–79%)
Fluid retentionSageli (30–79%)
Increased plasma triglyceridesMõnikord (5–29%)
Noninsulin-dependent diabetesMõnikord (5–29%)
Temperature instabilityMõnikord (5–29%)
HyperinsulinemiaPole registreeritud

Abnormality of prenatal development or birth

TraitKui sageli seda täheldatakse
Less than 10 fetal movements in 12 hoursSageli (30–79%)
Feet or buttocks of fetus positioned near opening of uterusMõnikord (5–29%)
High levels of amniotic fluidMõnikord (5–29%)
Low 1-minute APGAR scoreMõnikord (5–29%)
Low 5-minute APGAR scoreMõnikord (5–29%)
Low levels of amniotic fluidMõnikord (5–29%)

Growth abnormality

TraitKui sageli seda täheldatakse
Faltering weight in infancyVäga sageli (80–99%)
Short statureVäga sageli (80–99%)
Class III obesitySageli (30–79%)
ObesitySageli (30–79%)
Prenatal growth deficiencyMõnikord (5–29%)
Abdominal obesityPole registreeritud

Abnormality of the endocrine system

TraitKui sageli seda täheldatakse
Decreased response to growth hormone stimulation testVäga sageli (80–99%)
Hypogonadotropic hypogonadismVäga sageli (80–99%)
Delayed pubertySageli (30–79%)
Adrenal insufficiencyHarva (1–4%)
Early onset of pubertyPole registreeritud

Abnormality of the eye

TraitKui sageli seda täheldatakse
Close sightedMõnikord (5–29%)
Inward turning cross eyedMõnikord (5–29%)
Blue eyesPole registreeritud
Cross-eyedPole registreeritud
FarsightednessPole registreeritud

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Feeding difficulties in infancyVäga sageli (80–99%)
Poor suckVäga sageli (80–99%)
Tube feedingVäga sageli (80–99%)
Chronic constipationSageli (30–79%)

Abnormality of the integument

TraitKui sageli seda täheldatakse
Photosensitive skinSageli (30–79%)
Frontal upsweep of hairMõnikord (5–29%)
Fair skinPole registreeritud

Abnormality of the immune system

TraitKui sageli seda täheldatakse
Recurrent respiratory infectionsSageli (30–79%)

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
Slow breathingPole registreeritud

Abnormality of the voice

TraitKui sageli seda täheldatakse
Nasal speechSageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to HERC2 and how often each is seen. Find out more at hpo.jax.org.

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