Trăsături

Trăsături asociate cu SPTLC2

serine palmitoyltransferase long chain base subunit 2

Human Phenotype Ontology asociază 84 trăsături cu SPTLC2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SPTLC2

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Distal muscle wasting	Foarte des (80–99%)
Lower limb spasticity	Foarte des (80–99%)
Muscle degeneration	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Uncontrollable movement in upper arms	Foarte des (80–99%)
Weakness of outermost muscles	Foarte des (80–99%)
Limb pain	Des (30–79%)
Lower-limb joint contracture	Des (30–79%)
Muscle fiber degeneration	Des (30–79%)
Spastic diplegia	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Upper-limb joint contracture	Des (30–79%)
EMG: slow motor conduction	Uneori (5–29%)
Neck flexion weakness	Uneori (5–29%)
Neuropathic arthropathy	Uneori (5–29%)
Opisthotonus	Uneori (5–29%)
Proximal neurogenic muscle weakness	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Spontaneous fracture	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Hyperkeratosis	Des (30–79%)
Lack of sweating or excessive sweating	Des (30–79%)
Open skin sore	Des (30–79%)
Penetrating foot ulcers	Des (30–79%)
Poor wound healing	Des (30–79%)
Lack of sweating	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Distal lower limb muscle weakness	Întotdeauna
Distal upper limb muscle weakness	Întotdeauna
Hyporeflexia of lower limbs	Întotdeauna
Foot drop	Des (30–79%)
Autoamputation of digits	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Uneori (5–29%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Uneori (5–29%)
Retrocollis	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Supranuclear gaze palsy	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Loss of bladder control	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Bone infection	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Cough	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Impaired ability to dress oneself	Foarte des (80–99%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Wasting syndrome	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu SPTLC2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu