Tunnused

Geeniga DNAJC21 seotud tunnused

DnaJ heat shock protein family (Hsp40) member C21

Inimese fenotüübi ontoloogia seostab geeniga DNAJC21 123 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

DNAJC21

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Low blood neutrophil count	Alati
Low number of red blood cells or hemoglobin	Alati
Abnormality of blood and blood-forming tissues	Väga sageli (80–99%)
Bone marrow failure	Väga sageli (80–99%)
Impaired neutrophil chemotaxis	Sageli (30–79%)
Increased mean corpuscular volume	Sageli (30–79%)
Low blood cell count	Sageli (30–79%)
Low platelet count	Sageli (30–79%)
Macrocytic anemia	Sageli (30–79%)
Myelodysplasia	Sageli (30–79%)
Normocytic anemia	Sageli (30–79%)
Persistence of hemoglobin F	Sageli (30–79%)
Persistently decreased total neutrophil count	Sageli (30–79%)
Transiently decreased total neutrophil count	Sageli (30–79%)
Acute myeloid leukemia	Mõnikord (5–29%)
Aplastic anemia	Mõnikord (5–29%)
Blood cancer	Mõnikord (5–29%)
Decreased blood leukocyte number	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Anterior rib cupping	Alati
Abnormality of the skeletal system	Väga sageli (80–99%)
Delayed bone maturation	Sageli (30–79%)
Abnormal shape of joints	Mõnikord (5–29%)
Compression fracture of a vertebral body	Mõnikord (5–29%)
Deformed rib cage	Mõnikord (5–29%)
Osteopenia	Mõnikord (5–29%)
Double-Jointed	Pole registreeritud
Enlargement of the costochondral junction	Pole registreeritud
Hernia	Pole registreeritud
Irregular ossification at anterior rib ends	Pole registreeritud
Low solidness and mass of the bones	Pole registreeritud
Narrow chest	Pole registreeritud
Narrow greater sciatic notch	Pole registreeritud
Ovoid vertebral bodies	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally small head	Sageli (30–79%)
Dental cavities	Mõnikord (5–29%)
Downturned corners of mouth	Mõnikord (5–29%)
Failure of development of between one and six teeth	Mõnikord (5–29%)
Mouth sore	Mõnikord (5–29%)
Sinus disease	Mõnikord (5–29%)
Delayed eruption of teeth	Harva (1–4%)
Amelogenesis imperfecta	Pole registreeritud
Decreased size of tooth	Pole registreeritud
Downward slanting of the opening between the eyelids	Pole registreeritud
Eye folds	Pole registreeritud
Little lower jaw	Pole registreeritud
Sparse or absent eyebrows	Pole registreeritud
Thin dental enamel	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Proximal femoral metaphyseal irregularity	Alati
Metaphyseal dysplasia	Sageli (30–79%)
Broad wide portion of long bone	Mõnikord (5–29%)
Irregular wide portion of a long bone	Mõnikord (5–29%)
Metaphyseal chondrodysplasia	Mõnikord (5–29%)
Abnormalities of the fingers	Harva (1–4%)
Slipped end part of innermost thighbone	Harva (1–4%)
Coxa vara	Pole registreeritud
Dislocated hip since birth	Pole registreeritud
Increased bone density in wide portion of long bone	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Hyperechogenic pancreas	Alati
Abnormality of the gastrointestinal tract	Väga sageli (80–99%)
Fat malabsorption	Väga sageli (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Väga sageli (80–99%)
Fat in feces	Sageli (30–79%)
Malnutrition	Sageli (30–79%)
Underdeveloped pancreas	Sageli (30–79%)
Feeding difficulties	Mõnikord (5–29%)
Pancreatic steatosis	Mõnikord (5–29%)
Enlarged liver	Harva (1–4%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Eczema	Mõnikord (5–29%)
Pneumonia	Mõnikord (5–29%)
Recurrent bacterial infections	Mõnikord (5–29%)
Recurrent infections	Mõnikord (5–29%)
Recurrent viral infections	Mõnikord (5–29%)
Skin rash	Mõnikord (5–29%)
Bone infection	Harva (1–4%)
Decreased immune function	Harva (1–4%)
Infection in blood stream	Harva (1–4%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Behavioral abnormality	Sageli (30–79%)
Global developmental delay	Sageli (30–79%)
Autism spectrum disorder	Mõnikord (5–29%)
Intellectual disability	Mõnikord (5–29%)
Motor delay	Mõnikord (5–29%)
Short attention span	Mõnikord (5–29%)
More active than typical	Harva (1–4%)
Intellectual disability, mild	Pole registreeritud
Specific learning disability	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Vitamin E deficiency	Alati
Decreased circulating vitamin K concentration	Sageli (30–79%)
Deficient in vitamin D	Sageli (30–79%)
Hypoamylasemia	Sageli (30–79%)
Increased serum bile acid concentration	Sageli (30–79%)
Vitamin A deficiency	Sageli (30–79%)
Diabetes mellitus	Harva (1–4%)
High liver enzymes	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Breakdown of light-sensitive cells in back of eye	Mõnikord (5–29%)
Deeply set eye	Mõnikord (5–29%)
Retinal dysplasia	Mõnikord (5–29%)
Astigmatism	Pole registreeritud
Close sighted	Pole registreeritud
Farsightedness	Pole registreeritud
Wide-set eyes	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Hyperkeratosis	Mõnikord (5–29%)
Hypomelanotic macule	Mõnikord (5–29%)
Ichthyosis	Harva (1–4%)
Poor nail formation	Pole registreeritud
Small nail	Pole registreeritud
Sparse hair	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Prenatal growth deficiency	Alati
Faltering weight	Sageli (30–79%)
Growth delay	Sageli (30–79%)
Short stature	Sageli (30–79%)
Small for gestational age	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Cupped ear	Mõnikord (5–29%)
Abnormality of the outer ear	Harva (1–4%)
Hearing impairment	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the heart	Mõnikord (5–29%)
Myocardial necrosis	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased response to growth hormone stimulation test	Harva (1–4%)
Hypopituitarism	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Increased calcium level in kidney	Pole registreeritud
Undescended testes	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Pole registreeritud
Neonatal respiratory distress	Pole registreeritud

Abnormality of the thoracic cavity

Tunnus	Kui sageli seda täheldatakse
Abnormality of the thoracic cavity	Mõnikord (5–29%)

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

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga DNAJC21 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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