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

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
Proximal lower limb muscle weakness	Aina
Proximal upper limb muscle weakness	Aina
Abnormal feet structure	Hyvin usein (80–99%)
Distal lower limb muscle weakness	Hyvin usein (80–99%)
Distal upper limb muscle weakness	Hyvin usein (80–99%)
High-arched foot	Hyvin usein (80–99%)
Club feet	Usein (30–79%)
Club foot on both sides	Usein (30–79%)
Decreased Achilles reflex	Usein (30–79%)
Decreased arm strength	Usein (30–79%)
Hammertoe	Usein (30–79%)
Hand muscle degeneration	Usein (30–79%)
Hand muscle weakness	Usein (30–79%)
Hyporeflexia of upper limbs	Usein (30–79%)
Intrinsic hand muscle atrophy	Usein (30–79%)
Joint contracture of the hand	Usein (30–79%)
Limited movement of hinge joints	Usein (30–79%)
Limited wrist movement	Usein (30–79%)
Lower limb muscle weakness	Usein (30–79%)
Peroneal muscle weakness	Usein (30–79%)
Quadriceps weakness	Usein (30–79%)
Split hand	Usein (30–79%)
Ulnar claw	Usein (30–79%)
Weak shoulder muscles	Joskus (5–29%)
Foot drop	Ei kirjattu
Limb muscle weakness	Ei kirjattu

Abnormality of the musculoskeletal system

Trait	Kuinka usein sitä esiintyy
Weakness of outermost muscles	Aina
Distal muscle wasting	Hyvin usein (80–99%)
EMG abnormality	Hyvin usein (80–99%)
Muscle degeneration	Hyvin usein (80–99%)
Abnormality of the vertebral column	Usein (30–79%)
Angulated muscle fibers	Usein (30–79%)
Fiber type grouping	Usein (30–79%)
Flexed joint that cannot be straightened	Usein (30–79%)
Frequent falls	Usein (30–79%)
Kyphoscoliosis	Usein (30–79%)
Neuropathic spinal arthropathy	Usein (30–79%)
Proximal neurogenic muscle weakness	Usein (30–79%)
Type 1 muscle fiber predominance	Usein (30–79%)
Abnormality of the chest	Joskus (5–29%)
Denervation of the diaphragm	Joskus (5–29%)
Generalized low muscle tone in neonate	Joskus (5–29%)
Scoliosis	Joskus (5–29%)
EMG: neuropathic changes	Ei kirjattu

Abnormality of head or neck

Trait	Kuinka usein sitä esiintyy
Weakness of facial musculature	Harvinainen (1–4 %)

Abnormality of the cardiovascular system

Trait	Kuinka usein sitä esiintyy
Abnormal heart rate	Usein (30–79%)

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Stiff lung or chest wall causing decreased lung volume	Joskus (5–29%)

Abnormality of the voice

Trait	Kuinka usein sitä esiintyy
Hoarse voice	Usein (30–79%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

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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