Traits

Traits linked to PTF1A

pancreas associated transcription factor 1a

The Human Phenotype Ontology links 33 traits to PTF1A, by body system: features seen in people with one of the gene's rare conditions.

PTF1A

Abnormality of the nervous system

Trait	How often it is seen
Agenesis of cerebellar vermis	Always
Cerebellar agenesis	Always
Small cerebellum	Very often (80–99%)
Mild global developmental delay	Sometimes (5–29%)
Decreased reflex response	Rarely (1–4%)
Epilepsy	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Absent pancreas	Always
Inability to properly digest food due to lack of pancreatic digestive enzymes	Always
Absent/small pancreas	Often (30–79%)
Underdeveloped pancreas	Often (30–79%)
Fat in feces	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Short chin	Very often (80–99%)
Triangular face	Very often (80–99%)
Abnormally small head	Not recorded
Beaked nose	Not recorded

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Always
High blood sugar	Always
Neonatal insulin-dependent diabetes mellitus	Very often (80–99%)
Low blood sugar	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flexed joint that cannot be straightened	Always
Pigeon chest	Sometimes (5–29%)
Joint stiffness	Not recorded

Growth abnormality

Trait	How often it is seen
Severe prenatal growth deficiency	Always
Faltering weight	Not recorded
Small for gestational age	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Very often (80–99%)
Abnormally shaped ears	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Not recorded

Abnormality of limbs

Trait	How often it is seen
Overlapping fingers	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Secundum atrial septal defect	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Optic nerve hypoplasia	Always

Abnormality of the integument

Trait	How often it is seen
Reduced fat tissue below the skin	Always

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	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 PTF1A and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test