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Traits

Traits linked to PLCH1

phospholipase C eta 1

The Human Phenotype Ontology links 99 traits to PLCH1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitMilyen gyakran fordul elő
Abnormal central motor functionGyakran (30–79%)
Abnormal morphology of the olfactory bulbGyakran (30–79%)
Abnormal shape of brainstemGyakran (30–79%)
Abnormality of the autonomic nervous systemGyakran (30–79%)
Absent speech developmentGyakran (30–79%)
AnxietyGyakran (30–79%)
Aplasia of the falx cerebriGyakran (30–79%)
Attention deficitGyakran (30–79%)
Behavioral abnormalityGyakran (30–79%)
DepressionGyakran (30–79%)
EpilepsyGyakran (30–79%)
HoloprosencephalyGyakran (30–79%)
Inability to walkGyakran (30–79%)
Intellectual disabilityGyakran (30–79%)
IrritabilityGyakran (30–79%)
Lack of feeling, emotion, interestGyakran (30–79%)
LethargyGyakran (30–79%)
Limb dystoniaGyakran (30–79%)
Neural tube defectGyakran (30–79%)
Oromotor apraxiaGyakran (30–79%)
Sleep-wake cycle disturbanceGyakran (30–79%)
Specific learning disabilityGyakran (30–79%)
Too much cerebrospinal fluid in the brainGyakran (30–79%)
VentriculomegalyGyakran (30–79%)
Absent septum pellucidumNéha (5–29%)
Agenesis of corpus callosumNéha (5–29%)
Alobar holoprosencephalyNéha (5–29%)
Aqueductal stenosisNéha (5–29%)
Degeneration of cerebellumNéha (5–29%)
EEG abnormalityNéha (5–29%)
Global developmental delayNéha (5–29%)
Grand mal seizuresNéha (5–29%)
Gray matter heterotopiaNéha (5–29%)
Interhemispheric cystNéha (5–29%)
Partial absence of cerebellar vermisNéha (5–29%)
Partial agenesis of the corpus callosumNéha (5–29%)
Periventricular heterotopiaNéha (5–29%)
Poor speechNéha (5–29%)
Subependymal cystsNéha (5–29%)

Abnormality of head or neck

TraitMilyen gyakran fordul elő
Abnormally small headGyakran (30–79%)
Bifid uvulaGyakran (30–79%)
Central cleft upper lipGyakran (30–79%)
Cleft lipGyakran (30–79%)
Cleft palateGyakran (30–79%)
Flat noseGyakran (30–79%)
High palateGyakran (30–79%)
ProboscisGyakran (30–79%)
Big calvariaNéha (5–29%)
Dandy-Walker malformationNéha (5–29%)
Enlarged cisterna magnaNéha (5–29%)
Frontal bossingNéha (5–29%)
Mono nostrilNéha (5–29%)
Nasal tip, upturnedNéha (5–29%)
Only one upper front toothNéha (5–29%)
Posterior fossa cystNéha (5–29%)

Abnormality of the digestive system

TraitMilyen gyakran fordul elő
Feeding difficultiesNagyon gyakran (80–99%)
Poor suckNagyon gyakran (80–99%)
Acid refluxGyakran (30–79%)
ConstipationGyakran (30–79%)
Poor swallowingGyakran (30–79%)
VomitingGyakran (30–79%)
Abnormal shape of the digestive systemNéha (5–29%)
Gastrostomy tube feeding in infancyNéha (5–29%)

Abnormality of the musculoskeletal system

TraitMilyen gyakran fordul elő
Decreased muscle tone in infantGyakran (30–79%)
Involuntary muscle stiffness, contraction, or spasmGyakran (30–79%)
Abnormality of the skeletal systemNéha (5–29%)
Flexed joint that cannot be straightenedNéha (5–29%)
Generalized decreased muscle toneNéha (5–29%)
Low muscle tone in trunkNéha (5–29%)
ScoliosisNéha (5–29%)

Abnormality of the endocrine system

TraitMilyen gyakran fordul elő
Abnormal hypothalamus physiologyGyakran (30–79%)
Abnormality of the endocrine systemNéha (5–29%)
Central hypothyroidismNéha (5–29%)
Decreased response to growth hormone stimulation testNéha (5–29%)
Diabetes insipidusNéha (5–29%)
PanhypopituitarismNéha (5–29%)

Abnormality of the cardiovascular system

TraitMilyen gyakran fordul elő
Hole in heart wall separating two lower heart chambersGyakran (30–79%)
Abnormal heart rate variabilityNéha (5–29%)
Abnormality of the heartNéha (5–29%)
Aortic valve atresiaNéha (5–29%)
Double outlet right ventricleNéha (5–29%)

Abnormality of the eye

TraitMilyen gyakran fordul elő
Abnormality of the eyeNagyon gyakran (80–99%)
Abnormally close eyesNagyon gyakran (80–99%)
Cerebral visual impairmentGyakran (30–79%)
Cyclops eyeGyakran (30–79%)

Abnormality of the ear

TraitMilyen gyakran fordul elő
Sensorineural hearing impairmentGyakran (30–79%)
Large earsNéha (5–29%)
Low-set earsNéha (5–29%)

Abnormality of the respiratory system

TraitMilyen gyakran fordul elő
Abnormal pattern of respirationGyakran (30–79%)
Central apneaGyakran (30–79%)
Chronic lung diseaseGyakran (30–79%)

Growth abnormality

TraitMilyen gyakran fordul elő
Faltering weightNagyon gyakran (80–99%)
Growth delayNagyon gyakran (80–99%)
Short statureNagyon gyakran (80–99%)

Abnormality of limbs

TraitMilyen gyakran fordul elő
Abnormality of limbsNéha (5–29%)
Hip dislocationNéha (5–29%)

Abnormality of the genitourinary system

TraitMilyen gyakran fordul elő
Abnormality of the genitourinary systemNéha (5–29%)

Abnormality of the immune system

TraitMilyen gyakran fordul elő
Aspiration pneumoniaGyakran (30–79%)

Laboratory abnormality

TraitMilyen gyakran fordul elő
Temperature instabilityGyakran (30–79%)

Az, hogy milyen gyakran fordul elő a gén valamelyik állapotával élő emberek körében (a leggyakoribb érték, ahogyan a Human Phenotype Ontology rögzíti). Ezek az oldalak tulajdonságokat és az azok mögött álló kutatásokat ismertetik; nem diagnózist jelentenek. A tünetekkel kapcsolatban orvoshoz vagy genetikai tanácsadóhoz érdemes fordulni.

Forrás

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to PLCH1 and how often each is seen. Find out more at hpo.jax.org.

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