Traits

Traits linked to PNPLA6

patatin like domain 6, lysophospholipase

The Human Phenotype Ontology links 109 traits to PNPLA6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	나타나는 빈도
Cerebellar vermis atrophy	항상
Decreased reflex response	항상
Degeneration of cerebellum	항상
Difficulty articulating speech	항상
Difficulty performing quick and alternating movements	항상
Inability to coordinate movements when walking	항상
Intellectual disability	항상
Intention tremor	항상
Unsteady walk	항상
Abnormal speech pattern	매우 자주 (80–99%)
Ataxia	매우 자주 (80–99%)
Babinski sign	자주 (30–79%)
Brisk knee jerk	자주 (30–79%)
Degeneration of the spinal cord	자주 (30–79%)
Increased reflexes	자주 (30–79%)
Intellectual disability, mild	자주 (30–79%)
Motor axonal neuropathy	자주 (30–79%)
Paralysis or weakness of one side of body	자주 (30–79%)
Peripheral axonal neuropathy	자주 (30–79%)
Peripheral neuropathy	자주 (30–79%)
Abnormal shape of upper motor neuron	가끔 (5–29%)
Behavioral abnormality	가끔 (5–29%)
Dementia	가끔 (5–29%)
Personality changes	가끔 (5–29%)
Epilepsy	드물게 (1–4%)
Abnormal gait	기록되지 않음
Absent reflexes	기록되지 않음
Explosive speech	기록되지 않음
Spinocerebellar atrophy	기록되지 않음

Trait	나타나는 빈도
Chorioretinal atrophy	항상
Involuntary, rapid, rhythmic eye movements	항상
Pigmentary retinopathy	항상
Retina degeneration	항상
Retinal pigment epithelial atrophy	항상
Severe near sightedness	항상
Abnormal electroretinogram	매우 자주 (80–99%)
Abnormal retinal pigmentation	매우 자주 (80–99%)
Chorioretinal dystrophy	매우 자주 (80–99%)
Optic atrophy	매우 자주 (80–99%)
Cat eye	가끔 (5–29%)
Close sighted	가끔 (5–29%)
Clouding of the lens of the eye	가끔 (5–29%)
Cross-eyed	가끔 (5–29%)
Breakdown of light-sensitive cells in back of eye	기록되지 않음
Central heterochromia	기록되지 않음
Extreme sensitivity of the eyes to light	기록되지 않음
Progressive loss of vision	기록되지 않음

Trait	나타나는 빈도
Decreased activity of gonads	항상
Decreased circulating follicle stimulating hormone concentration	항상
Decreased circulating luteinizing hormone level	항상
Decreased response to growth hormone stimulation test	항상
Decreased serum testosterone level	항상
Hypogonadotropic hypogonadism	항상
Reduced circulating growth hormone concentration	항상
Reduced circulating prolactin concentration	항상
Underdeveloped pituitary gland	항상
Abnormality of the hypothalamus-pituitary axis	매우 자주 (80–99%)
Underactive thyroid	매우 자주 (80–99%)
Decreased circulating gonadotropin concentration	기록되지 않음
Delayed puberty	기록되지 않음

Trait	나타나는 빈도
High-arched foot	항상
Decreased Achilles reflex	매우 자주 (80–99%)
Extra finger	매우 자주 (80–99%)
Finger syndactyly	매우 자주 (80–99%)
Decreased knee jerk reflex	자주 (30–79%)
Bilateral single transverse palmar creases	가끔 (5–29%)
Curvature of little finger	가끔 (5–29%)
Short fingers or toes	가끔 (5–29%)
Abnormality of the hand	기록되지 않음
Distal lower limb muscle weakness	기록되지 않음

Trait	나타나는 빈도
Delayed bone maturation	항상
Distal muscle wasting	자주 (30–79%)
Generalized muscle wasting	자주 (30–79%)
Involuntary muscle stiffness, contraction, or spasm	자주 (30–79%)
Low muscle tone	자주 (30–79%)
Lower limb spasticity	자주 (30–79%)
Spastic paraplegia	자주 (30–79%)
Progressive spastic paraplegia	기록되지 않음
Weakness of outermost muscles	기록되지 않음

Trait	나타나는 빈도
Primary amenorrhea	항상
Decreased fertility	매우 자주 (80–99%)
Short penis	매우 자주 (80–99%)
Renal failure	자주 (30–79%)
Underdeveloped penis	자주 (30–79%)
Undescended testes	자주 (30–79%)
Displacement of the urethral meatus	가끔 (5–29%)
Smaller than typical growth of scrotum	기록되지 않음

Trait	나타나는 빈도
Abnormal antitragus morphology	매우 자주 (80–99%)
Sensorineural hearing impairment	자주 (30–79%)
Ears rotated toward back of head	가끔 (5–29%)

Trait	나타나는 빈도
Enlarged male breast	매우 자주 (80–99%)
Accessory nipple	가끔 (5–29%)

Trait	나타나는 빈도
Sparse hair	항상
Hair loss	자주 (30–79%)

Trait	나타나는 빈도
Neonatal hyperbilirubinemia	자주 (30–79%)
Noninsulin-dependent diabetes	가끔 (5–29%)

Trait	나타나는 빈도
Abnormal cardiovascular system morphology	가끔 (5–29%)

Trait	나타나는 빈도
Excessive buildup of connective tissue and scarring of liver at birth	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PNPLA6 and how often each is seen. Find out more at hpo.jax.org.

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