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

Abnormality of limbs

Trait	Hvor ofte den forekommer
Proximal lower limb muscle weakness	Alltid
Proximal upper limb muscle weakness	Alltid
Abnormal feet structure	Svært ofte (80–99 %)
Distal lower limb muscle weakness	Svært ofte (80–99 %)
Distal upper limb muscle weakness	Svært ofte (80–99 %)
High-arched foot	Svært ofte (80–99 %)
Club feet	Ofte (30–79 %)
Club foot on both sides	Ofte (30–79 %)
Decreased Achilles reflex	Ofte (30–79 %)
Decreased arm strength	Ofte (30–79 %)
Hammertoe	Ofte (30–79 %)
Hand muscle degeneration	Ofte (30–79 %)
Hand muscle weakness	Ofte (30–79 %)
Hyporeflexia of upper limbs	Ofte (30–79 %)
Intrinsic hand muscle atrophy	Ofte (30–79 %)
Joint contracture of the hand	Ofte (30–79 %)
Limited movement of hinge joints	Ofte (30–79 %)
Limited wrist movement	Ofte (30–79 %)
Lower limb muscle weakness	Ofte (30–79 %)
Peroneal muscle weakness	Ofte (30–79 %)
Quadriceps weakness	Ofte (30–79 %)
Split hand	Ofte (30–79 %)
Ulnar claw	Ofte (30–79 %)
Weak shoulder muscles	Noen ganger (5–29 %)
Foot drop	Ikke registrert
Limb muscle weakness	Ikke registrert

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Weakness of outermost muscles	Alltid
Distal muscle wasting	Svært ofte (80–99 %)
EMG abnormality	Svært ofte (80–99 %)
Muscle degeneration	Svært ofte (80–99 %)
Abnormality of the vertebral column	Ofte (30–79 %)
Angulated muscle fibers	Ofte (30–79 %)
Fiber type grouping	Ofte (30–79 %)
Flexed joint that cannot be straightened	Ofte (30–79 %)
Frequent falls	Ofte (30–79 %)
Kyphoscoliosis	Ofte (30–79 %)
Neuropathic spinal arthropathy	Ofte (30–79 %)
Proximal neurogenic muscle weakness	Ofte (30–79 %)
Type 1 muscle fiber predominance	Ofte (30–79 %)
Abnormality of the chest	Noen ganger (5–29 %)
Denervation of the diaphragm	Noen ganger (5–29 %)
Generalized low muscle tone in neonate	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
EMG: neuropathic changes	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Weakness of facial musculature	Sjelden (1–4%)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormal heart rate	Ofte (30–79 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Stiff lung or chest wall causing decreased lung volume	Noen ganger (5–29 %)

Abnormality of the voice

Trait	Hvor ofte den forekommer
Hoarse voice	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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