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

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Proximal lower limb muscle weakness	Visada
Proximal upper limb muscle weakness	Visada
Abnormal feet structure	Labai dažnai (80–99%)
Distal lower limb muscle weakness	Labai dažnai (80–99%)
Distal upper limb muscle weakness	Labai dažnai (80–99%)
High-arched foot	Labai dažnai (80–99%)
Club feet	Dažnai (30–79%)
Club foot on both sides	Dažnai (30–79%)
Decreased Achilles reflex	Dažnai (30–79%)
Decreased arm strength	Dažnai (30–79%)
Hammertoe	Dažnai (30–79%)
Hand muscle degeneration	Dažnai (30–79%)
Hand muscle weakness	Dažnai (30–79%)
Hyporeflexia of upper limbs	Dažnai (30–79%)
Intrinsic hand muscle atrophy	Dažnai (30–79%)
Joint contracture of the hand	Dažnai (30–79%)
Limited movement of hinge joints	Dažnai (30–79%)
Limited wrist movement	Dažnai (30–79%)
Lower limb muscle weakness	Dažnai (30–79%)
Peroneal muscle weakness	Dažnai (30–79%)
Quadriceps weakness	Dažnai (30–79%)
Split hand	Dažnai (30–79%)
Ulnar claw	Dažnai (30–79%)
Weak shoulder muscles	Kartais (5–29%)
Foot drop	Neužfiksuota
Limb muscle weakness	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Weakness of outermost muscles	Visada
Distal muscle wasting	Labai dažnai (80–99%)
EMG abnormality	Labai dažnai (80–99%)
Muscle degeneration	Labai dažnai (80–99%)
Abnormality of the vertebral column	Dažnai (30–79%)
Angulated muscle fibers	Dažnai (30–79%)
Fiber type grouping	Dažnai (30–79%)
Flexed joint that cannot be straightened	Dažnai (30–79%)
Frequent falls	Dažnai (30–79%)
Kyphoscoliosis	Dažnai (30–79%)
Neuropathic spinal arthropathy	Dažnai (30–79%)
Proximal neurogenic muscle weakness	Dažnai (30–79%)
Type 1 muscle fiber predominance	Dažnai (30–79%)
Abnormality of the chest	Kartais (5–29%)
Denervation of the diaphragm	Kartais (5–29%)
Generalized low muscle tone in neonate	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
EMG: neuropathic changes	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Weakness of facial musculature	Retai (1–4 %)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal heart rate	Dažnai (30–79%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Stiff lung or chest wall causing decreased lung volume	Kartais (5–29%)

Abnormality of the voice

Trait	Kaip dažnai pasireiškia
Hoarse voice	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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