Traits

Traits linked to GDAP1

ganglioside induced differentiation associated protein 1

The Human Phenotype Ontology links 92 traits to GDAP1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	나타나는 빈도
Absent reflexes	항상
Decreased motor nerve conduction velocity	항상
Decreased number of large peripheral myelinated nerve fibers	항상
Decreased number of peripheral myelinated nerve fibers	항상
Decreased reflex response	항상
Decreased sensation in extremities	항상
Decreased sensory nerve conduction velocity	항상
Decreased touch sensation in extremities	항상
Impaired distal vibration sensation	항상
Impaired pain sensation	항상
Onion bulb formation	항상
Peripheral demyelination	항상
Peripheral neuropathy	항상
Segmental peripheral demyelination	항상
Axonal loss	매우 자주 (80–99%)
Chronic axonal neuropathy	매우 자주 (80–99%)
Decreased nerve conduction velocity	매우 자주 (80–99%)
Decreased number of small peripheral myelinated nerve fibers	매우 자주 (80–99%)
Impaired touch sensation	매우 자주 (80–99%)
Impaired vibratory sensation	매우 자주 (80–99%)
Nerve damage causing decreased feeling and movement	매우 자주 (80–99%)
Peripheral axonal degeneration	매우 자주 (80–99%)
Poor fine motor coordination	매우 자주 (80–99%)
Poor gross motor coordination	매우 자주 (80–99%)
Abnormal gait	자주 (30–79%)
Clumsy tandem walking	자주 (30–79%)
Clusters of axonal regeneration	자주 (30–79%)
Diminished deep tendon reflex	자주 (30–79%)
Impaired distal proprioception	자주 (30–79%)
Inability to walk	자주 (30–79%)
Loss of ability to walk	자주 (30–79%)
Motor delay	자주 (30–79%)
Unsteady walk	자주 (30–79%)
Weakness of the vocal cords	자주 (30–79%)
Demyelinating peripheral neuropathy	가끔 (5–29%)
Motor conduction block	가끔 (5–29%)
Axonal degeneration	기록되지 않음
Axonal regeneration	기록되지 않음
Basal lamina onion bulb formation	기록되지 않음
CNS hypomyelination	기록되지 않음
Decreased distal sensory nerve action potential	기록되지 않음
High stepping	기록되지 않음
Hypertrophic nerve changes	기록되지 않음
Inability to walk by childhood/adolescence	기록되지 않음

Abnormality of limbs

Trait	나타나는 빈도
Proximal lower limb muscle weakness	항상
Proximal upper limb muscle weakness	항상
Abnormal feet structure	매우 자주 (80–99%)
Distal lower limb muscle weakness	매우 자주 (80–99%)
Distal upper limb muscle weakness	매우 자주 (80–99%)
High-arched foot	매우 자주 (80–99%)
Club feet	자주 (30–79%)
Club foot on both sides	자주 (30–79%)
Decreased Achilles reflex	자주 (30–79%)
Decreased arm strength	자주 (30–79%)
Hammertoe	자주 (30–79%)
Hand muscle degeneration	자주 (30–79%)
Hand muscle weakness	자주 (30–79%)
Hyporeflexia of upper limbs	자주 (30–79%)
Intrinsic hand muscle atrophy	자주 (30–79%)
Joint contracture of the hand	자주 (30–79%)
Limited movement of hinge joints	자주 (30–79%)
Limited wrist movement	자주 (30–79%)
Lower limb muscle weakness	자주 (30–79%)
Peroneal muscle weakness	자주 (30–79%)
Quadriceps weakness	자주 (30–79%)
Split hand	자주 (30–79%)
Ulnar claw	자주 (30–79%)
Weak shoulder muscles	가끔 (5–29%)
Foot drop	기록되지 않음
Limb muscle weakness	기록되지 않음

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Weakness of outermost muscles	항상
Distal muscle wasting	매우 자주 (80–99%)
EMG abnormality	매우 자주 (80–99%)
Muscle degeneration	매우 자주 (80–99%)
Abnormality of the vertebral column	자주 (30–79%)
Angulated muscle fibers	자주 (30–79%)
Fiber type grouping	자주 (30–79%)
Flexed joint that cannot be straightened	자주 (30–79%)
Frequent falls	자주 (30–79%)
Kyphoscoliosis	자주 (30–79%)
Neuropathic spinal arthropathy	자주 (30–79%)
Proximal neurogenic muscle weakness	자주 (30–79%)
Type 1 muscle fiber predominance	자주 (30–79%)
Abnormality of the chest	가끔 (5–29%)
Denervation of the diaphragm	가끔 (5–29%)
Generalized low muscle tone in neonate	가끔 (5–29%)
Scoliosis	가끔 (5–29%)
EMG: neuropathic changes	기록되지 않음

Abnormality of head or neck

Trait	나타나는 빈도
Weakness of facial musculature	드물게 (1–4%)

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Abnormal heart rate	자주 (30–79%)

Abnormality of the respiratory system

Trait	나타나는 빈도
Stiff lung or chest wall causing decreased lung volume	가끔 (5–29%)

Abnormality of the voice

Trait	나타나는 빈도
Hoarse voice	자주 (30–79%)

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 GDAP1 and how often each is seen. Find out more at hpo.jax.org.

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