Traits

Traits linked to SPTLC2

serine palmitoyltransferase long chain base subunit 2

The Human Phenotype Ontology links 84 traits to SPTLC2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	나타나는 빈도
Decreased motor nerve conduction velocity	항상
Decreased sensation in extremities	항상
Impaired pain sensation	항상
Impaired vibration sensation in the lower limbs	항상
Nerve damage causing decreased feeling and movement	항상
Upper limb hyperreflexia	항상
Abnormality of balance	매우 자주 (80–99%)
Abnormality of the autonomic nervous system	매우 자주 (80–99%)
Decreased amplitude of sensory action potentials	매우 자주 (80–99%)
Lou Gehrig's disease	매우 자주 (80–99%)
Abnormal gait	자주 (30–79%)
Abnormal speech pattern	자주 (30–79%)
Arm dystonia	자주 (30–79%)
Brisk reflexes	자주 (30–79%)
Bulbar signs	자주 (30–79%)
CNS hypomyelination	자주 (30–79%)
Decreased touch sensation in extremities	자주 (30–79%)
Delayed ability to walk	자주 (30–79%)
Dystonia	자주 (30–79%)
Hand tingling	자주 (30–79%)
High stepping	자주 (30–79%)
Impaired temperature sensation	자주 (30–79%)
Inability to walk	자주 (30–79%)
Pain insensitivity	자주 (30–79%)
Trophic changes related to pain	자주 (30–79%)
Abnormality of the cerebellum	가끔 (5–29%)
Ataxia	가끔 (5–29%)
Axial dystonia	가끔 (5–29%)
Behavioral abnormality	가끔 (5–29%)
Chorea	가끔 (5–29%)
Clonus	가끔 (5–29%)
Cognitive impairment	가끔 (5–29%)
Distal sensory impairment of all modalities	가끔 (5–29%)
Dysesthesia	가끔 (5–29%)
Global developmental delay	가끔 (5–29%)
Head titubation	가끔 (5–29%)
Loss of articulate speech	가끔 (5–29%)
Motor axonal neuropathy	가끔 (5–29%)
Oromandibular dystonia	가끔 (5–29%)
Parkinsonism	가끔 (5–29%)
Toe walking	가끔 (5–29%)

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Distal muscle wasting	매우 자주 (80–99%)
Lower limb spasticity	매우 자주 (80–99%)
Muscle degeneration	매우 자주 (80–99%)
Muscle weakness	매우 자주 (80–99%)
Uncontrollable movement in upper arms	매우 자주 (80–99%)
Weakness of outermost muscles	매우 자주 (80–99%)
Limb pain	자주 (30–79%)
Lower-limb joint contracture	자주 (30–79%)
Muscle fiber degeneration	자주 (30–79%)
Spastic diplegia	자주 (30–79%)
Spasticity and rigidity of muscles	자주 (30–79%)
Upper-limb joint contracture	자주 (30–79%)
EMG: slow motor conduction	가끔 (5–29%)
Neck flexion weakness	가끔 (5–29%)
Neuropathic arthropathy	가끔 (5–29%)
Opisthotonus	가끔 (5–29%)
Proximal neurogenic muscle weakness	가끔 (5–29%)
Scoliosis	가끔 (5–29%)
Spontaneous fracture	가끔 (5–29%)

Abnormality of the integument

Trait	나타나는 빈도
Hyperkeratosis	자주 (30–79%)
Lack of sweating or excessive sweating	자주 (30–79%)
Open skin sore	자주 (30–79%)
Penetrating foot ulcers	자주 (30–79%)
Poor wound healing	자주 (30–79%)
Lack of sweating	가끔 (5–29%)

Abnormality of limbs

Trait	나타나는 빈도
Distal lower limb muscle weakness	항상
Distal upper limb muscle weakness	항상
Hyporeflexia of lower limbs	항상
Foot drop	자주 (30–79%)
Autoamputation of digits	가끔 (5–29%)

Abnormality of the digestive system

Trait	나타나는 빈도
Acid reflux	가끔 (5–29%)
Gastrostomy tube feeding in infancy	가끔 (5–29%)
Poor swallowing	가끔 (5–29%)

Abnormality of head or neck

Trait	나타나는 빈도
Abnormally small head	가끔 (5–29%)
Retrocollis	가끔 (5–29%)

Abnormality of the eye

Trait	나타나는 빈도
Involuntary, rapid, rhythmic eye movements	가끔 (5–29%)
Supranuclear gaze palsy	가끔 (5–29%)

Abnormality of the ear

Trait	나타나는 빈도
Hearing impairment	가끔 (5–29%)

Abnormality of the genitourinary system

Trait	나타나는 빈도
Loss of bladder control	가끔 (5–29%)

Abnormality of the immune system

Trait	나타나는 빈도
Bone infection	자주 (30–79%)

Abnormality of the respiratory system

Trait	나타나는 빈도
Cough	가끔 (5–29%)

Constitutional symptom

Trait	나타나는 빈도
Impaired ability to dress oneself	매우 자주 (80–99%)

Growth abnormality

Trait	나타나는 빈도
Wasting syndrome	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.

출처

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SPTLC2 and how often each is seen. Find out more at hpo.jax.org.

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