Traits

Traits linked to RETREG1

reticulophagy regulator 1

The Human Phenotype Ontology links 46 traits to RETREG1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Frequent falls	Always
Involuntary muscle stiffness, contraction, or spasm	Always
Scissor gait	Always
Abnormal cortical bone morphology	Very often (80–99%)
Abnormal shape of end part of bone	Very often (80–99%)
Abnormality of the hip bone	Very often (80–99%)
Breakdown of bone	Very often (80–99%)
Low solidness and mass of the bones	Very often (80–99%)
Muscle degeneration	Very often (80–99%)
Prominent swayback	Very often (80–99%)
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded
Painless fractures due to injury	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Hyperactive deep tendon reflexes	Always
Peripheral axonal neuropathy	Always
Decreased sensation in extremities	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Absent reflexes	Not recorded
Decreased nerve conduction velocity	Not recorded
Decreased number of peripheral myelinated nerve fibers	Not recorded
Decreased reflex response	Not recorded
Decreased sensory nerve conduction velocity	Not recorded
Peripheral neuropathy	Not recorded

Abnormality of limbs

Trait	How often it is seen
Acroosteolysis of distal phalanges (feet)	Always
Lower limb muscle weakness	Always
Abnormality of the ankle	Very often (80–99%)
Abnormality of the knee	Very often (80–99%)
Foot acroosteolysis	Very often (80–99%)
Tapered finger	Very often (80–99%)
Autoamputation of digits	Not recorded
Breakdown of small bones of fingers	Not recorded

Abnormality of the integument

Trait	How often it is seen
Acral ulceration	Always
Excessive sweating	Very often (80–99%)
Poor fingernail formation	Very often (80–99%)
Poor toenail formation	Very often (80–99%)
Lack of sweating	Not recorded
Paronychia	Not recorded
Sporadic excessive sweating	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Extra bones within cranial sutures	Very often (80–99%)
Decreased taste	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Not recorded
Feeding difficulties in infancy	Not recorded

Abnormality of the eye

Trait	How often it is seen
Decreased corneal reflex	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Bone infection	Not recorded

Laboratory abnormality

Trait	How often it is seen
Laboratory abnormality	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to RETREG1 and how often each is seen. Find out more at hpo.jax.org.

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