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

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Proximal lower limb muscle weakness	Alati
Proximal upper limb muscle weakness	Alati
Abnormal feet structure	Väga sageli (80–99%)
Distal lower limb muscle weakness	Väga sageli (80–99%)
Distal upper limb muscle weakness	Väga sageli (80–99%)
High-arched foot	Väga sageli (80–99%)
Club feet	Sageli (30–79%)
Club foot on both sides	Sageli (30–79%)
Decreased Achilles reflex	Sageli (30–79%)
Decreased arm strength	Sageli (30–79%)
Hammertoe	Sageli (30–79%)
Hand muscle degeneration	Sageli (30–79%)
Hand muscle weakness	Sageli (30–79%)
Hyporeflexia of upper limbs	Sageli (30–79%)
Intrinsic hand muscle atrophy	Sageli (30–79%)
Joint contracture of the hand	Sageli (30–79%)
Limited movement of hinge joints	Sageli (30–79%)
Limited wrist movement	Sageli (30–79%)
Lower limb muscle weakness	Sageli (30–79%)
Peroneal muscle weakness	Sageli (30–79%)
Quadriceps weakness	Sageli (30–79%)
Split hand	Sageli (30–79%)
Ulnar claw	Sageli (30–79%)
Weak shoulder muscles	Mõnikord (5–29%)
Foot drop	Pole registreeritud
Limb muscle weakness	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Weakness of outermost muscles	Alati
Distal muscle wasting	Väga sageli (80–99%)
EMG abnormality	Väga sageli (80–99%)
Muscle degeneration	Väga sageli (80–99%)
Abnormality of the vertebral column	Sageli (30–79%)
Angulated muscle fibers	Sageli (30–79%)
Fiber type grouping	Sageli (30–79%)
Flexed joint that cannot be straightened	Sageli (30–79%)
Frequent falls	Sageli (30–79%)
Kyphoscoliosis	Sageli (30–79%)
Neuropathic spinal arthropathy	Sageli (30–79%)
Proximal neurogenic muscle weakness	Sageli (30–79%)
Type 1 muscle fiber predominance	Sageli (30–79%)
Abnormality of the chest	Mõnikord (5–29%)
Denervation of the diaphragm	Mõnikord (5–29%)
Generalized low muscle tone in neonate	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
EMG: neuropathic changes	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Weakness of facial musculature	Harva (1–4%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Abnormal heart rate	Sageli (30–79%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Stiff lung or chest wall causing decreased lung volume	Mõnikord (5–29%)

Abnormality of the voice

Trait	Kui sageli seda täheldatakse
Hoarse voice	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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