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

Abnormality of limbs

Trait	Cât de frecvent apare
Proximal lower limb muscle weakness	Întotdeauna
Proximal upper limb muscle weakness	Întotdeauna
Abnormal feet structure	Foarte des (80–99%)
Distal lower limb muscle weakness	Foarte des (80–99%)
Distal upper limb muscle weakness	Foarte des (80–99%)
High-arched foot	Foarte des (80–99%)
Club feet	Des (30–79%)
Club foot on both sides	Des (30–79%)
Decreased Achilles reflex	Des (30–79%)
Decreased arm strength	Des (30–79%)
Hammertoe	Des (30–79%)
Hand muscle degeneration	Des (30–79%)
Hand muscle weakness	Des (30–79%)
Hyporeflexia of upper limbs	Des (30–79%)
Intrinsic hand muscle atrophy	Des (30–79%)
Joint contracture of the hand	Des (30–79%)
Limited movement of hinge joints	Des (30–79%)
Limited wrist movement	Des (30–79%)
Lower limb muscle weakness	Des (30–79%)
Peroneal muscle weakness	Des (30–79%)
Quadriceps weakness	Des (30–79%)
Split hand	Des (30–79%)
Ulnar claw	Des (30–79%)
Weak shoulder muscles	Uneori (5–29%)
Foot drop	Neînregistrat
Limb muscle weakness	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Weakness of outermost muscles	Întotdeauna
Distal muscle wasting	Foarte des (80–99%)
EMG abnormality	Foarte des (80–99%)
Muscle degeneration	Foarte des (80–99%)
Abnormality of the vertebral column	Des (30–79%)
Angulated muscle fibers	Des (30–79%)
Fiber type grouping	Des (30–79%)
Flexed joint that cannot be straightened	Des (30–79%)
Frequent falls	Des (30–79%)
Kyphoscoliosis	Des (30–79%)
Neuropathic spinal arthropathy	Des (30–79%)
Proximal neurogenic muscle weakness	Des (30–79%)
Type 1 muscle fiber predominance	Des (30–79%)
Abnormality of the chest	Uneori (5–29%)
Denervation of the diaphragm	Uneori (5–29%)
Generalized low muscle tone in neonate	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
EMG: neuropathic changes	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Weakness of facial musculature	Rar (1–4%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Abnormal heart rate	Des (30–79%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Stiff lung or chest wall causing decreased lung volume	Uneori (5–29%)

Abnormality of the voice

Trait	Cât de frecvent apare
Hoarse voice	Des (30–79%)

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

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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