Traits

Traits linked to DNAJC21

DnaJ heat shock protein family (Hsp40) member C21

The Human Phenotype Ontology links 123 traits to DNAJC21, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	Frequenza di osservazione
Low blood neutrophil count	Sempre
Low number of red blood cells or hemoglobin	Sempre
Abnormality of blood and blood-forming tissues	Molto spesso (80–99%)
Bone marrow failure	Molto spesso (80–99%)
Impaired neutrophil chemotaxis	Spesso (30–79%)
Increased mean corpuscular volume	Spesso (30–79%)
Low blood cell count	Spesso (30–79%)
Low platelet count	Spesso (30–79%)
Macrocytic anemia	Spesso (30–79%)
Myelodysplasia	Spesso (30–79%)
Normocytic anemia	Spesso (30–79%)
Persistence of hemoglobin F	Spesso (30–79%)
Persistently decreased total neutrophil count	Spesso (30–79%)
Transiently decreased total neutrophil count	Spesso (30–79%)
Acute myeloid leukemia	A volte (5–29%)
Aplastic anemia	A volte (5–29%)
Blood cancer	A volte (5–29%)
Decreased blood leukocyte number	A volte (5–29%)

Abnormality of the musculoskeletal system

Trait	Frequenza di osservazione
Anterior rib cupping	Sempre
Abnormality of the skeletal system	Molto spesso (80–99%)
Delayed bone maturation	Spesso (30–79%)
Abnormal shape of joints	A volte (5–29%)
Compression fracture of a vertebral body	A volte (5–29%)
Deformed rib cage	A volte (5–29%)
Osteopenia	A volte (5–29%)
Double-Jointed	Non registrato
Enlargement of the costochondral junction	Non registrato
Hernia	Non registrato
Irregular ossification at anterior rib ends	Non registrato
Low solidness and mass of the bones	Non registrato
Narrow chest	Non registrato
Narrow greater sciatic notch	Non registrato
Ovoid vertebral bodies	Non registrato

Abnormality of head or neck

Trait	Frequenza di osservazione
Abnormally small head	Spesso (30–79%)
Dental cavities	A volte (5–29%)
Downturned corners of mouth	A volte (5–29%)
Failure of development of between one and six teeth	A volte (5–29%)
Mouth sore	A volte (5–29%)
Sinus disease	A volte (5–29%)
Delayed eruption of teeth	Raramente (1–4%)
Amelogenesis imperfecta	Non registrato
Decreased size of tooth	Non registrato
Downward slanting of the opening between the eyelids	Non registrato
Eye folds	Non registrato
Little lower jaw	Non registrato
Sparse or absent eyebrows	Non registrato
Thin dental enamel	Non registrato

Abnormality of limbs

Trait	Frequenza di osservazione
Proximal femoral metaphyseal irregularity	Sempre
Metaphyseal dysplasia	Spesso (30–79%)
Broad wide portion of long bone	A volte (5–29%)
Irregular wide portion of a long bone	A volte (5–29%)
Metaphyseal chondrodysplasia	A volte (5–29%)
Abnormalities of the fingers	Raramente (1–4%)
Slipped end part of innermost thighbone	Raramente (1–4%)
Coxa vara	Non registrato
Dislocated hip since birth	Non registrato
Increased bone density in wide portion of long bone	Non registrato

Abnormality of the digestive system

Trait	Frequenza di osservazione
Hyperechogenic pancreas	Sempre
Abnormality of the gastrointestinal tract	Molto spesso (80–99%)
Fat malabsorption	Molto spesso (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Molto spesso (80–99%)
Fat in feces	Spesso (30–79%)
Malnutrition	Spesso (30–79%)
Underdeveloped pancreas	Spesso (30–79%)
Feeding difficulties	A volte (5–29%)
Pancreatic steatosis	A volte (5–29%)
Enlarged liver	Raramente (1–4%)

Abnormality of the immune system

Trait	Frequenza di osservazione
Eczema	A volte (5–29%)
Pneumonia	A volte (5–29%)
Recurrent bacterial infections	A volte (5–29%)
Recurrent infections	A volte (5–29%)
Recurrent viral infections	A volte (5–29%)
Skin rash	A volte (5–29%)
Bone infection	Raramente (1–4%)
Decreased immune function	Raramente (1–4%)
Infection in blood stream	Raramente (1–4%)

Abnormality of the nervous system

Trait	Frequenza di osservazione
Behavioral abnormality	Spesso (30–79%)
Global developmental delay	Spesso (30–79%)
Autism spectrum disorder	A volte (5–29%)
Intellectual disability	A volte (5–29%)
Motor delay	A volte (5–29%)
Short attention span	A volte (5–29%)
More active than typical	Raramente (1–4%)
Intellectual disability, mild	Non registrato
Specific learning disability	Non registrato

Laboratory abnormality

Trait	Frequenza di osservazione
Vitamin E deficiency	Sempre
Decreased circulating vitamin K concentration	Spesso (30–79%)
Deficient in vitamin D	Spesso (30–79%)
Hypoamylasemia	Spesso (30–79%)
Increased serum bile acid concentration	Spesso (30–79%)
Vitamin A deficiency	Spesso (30–79%)
Diabetes mellitus	Raramente (1–4%)
High liver enzymes	Raramente (1–4%)

Abnormality of the eye

Trait	Frequenza di osservazione
Breakdown of light-sensitive cells in back of eye	A volte (5–29%)
Deeply set eye	A volte (5–29%)
Retinal dysplasia	A volte (5–29%)
Astigmatism	Non registrato
Close sighted	Non registrato
Farsightedness	Non registrato
Wide-set eyes	Non registrato

Abnormality of the integument

Trait	Frequenza di osservazione
Hyperkeratosis	A volte (5–29%)
Hypomelanotic macule	A volte (5–29%)
Ichthyosis	Raramente (1–4%)
Poor nail formation	Non registrato
Small nail	Non registrato
Sparse hair	Non registrato

Growth abnormality

Trait	Frequenza di osservazione
Prenatal growth deficiency	Sempre
Faltering weight	Spesso (30–79%)
Growth delay	Spesso (30–79%)
Short stature	Spesso (30–79%)
Small for gestational age	Non registrato

Abnormality of the ear

Trait	Frequenza di osservazione
Cupped ear	A volte (5–29%)
Abnormality of the outer ear	Raramente (1–4%)
Hearing impairment	Raramente (1–4%)

Abnormality of the cardiovascular system

Trait	Frequenza di osservazione
Abnormality of the heart	A volte (5–29%)
Myocardial necrosis	Non registrato

Abnormality of the endocrine system

Trait	Frequenza di osservazione
Decreased response to growth hormone stimulation test	Raramente (1–4%)
Hypopituitarism	Raramente (1–4%)

Abnormality of the genitourinary system

Trait	Frequenza di osservazione
Increased calcium level in kidney	Non registrato
Undescended testes	Non registrato

Abnormality of the respiratory system

Trait	Frequenza di osservazione
Breathing difficulties	Non registrato
Neonatal respiratory distress	Non registrato

Abnormality of the thoracic cavity

Trait	Frequenza di osservazione
Abnormality of the thoracic cavity	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

The Human Phenotype Ontology, release 2026-09-01: the traits linked to DNAJC21 and how often each is seen. Find out more at hpo.jax.org.

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