Trăsături

Trăsături asociate cu DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

Human Phenotype Ontology asociază 203 trăsături cu DNAJC30, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

DNAJC30

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the cardiovascular system	Foarte des (80–99%)
Abnormality of the cerebral blood vessels	Des (30–79%)
Disruption of blood oxygen supply to brain	Des (30–79%)
High blood pressure	Des (30–79%)
Mitral regurgitation	Des (30–79%)
Mitral valve prolapse	Des (30–79%)
Narrowing of an artery	Des (30–79%)
Narrowing of peripheral lung artery	Des (30–79%)
Narrowing of pulmonic valve	Des (30–79%)
Renovascular hypertension	Des (30–79%)
Retinal telangiectasia	Des (30–79%)
Retinal vascular tortuosity	Des (30–79%)
Stroke	Des (30–79%)
Supravalvular aortic stenosis	Des (30–79%)
Abnormal cardiac septum morphology	Uneori (5–29%)
Abnormal carotid artery morphology	Uneori (5–29%)
Abnormal endocardium morphology	Uneori (5–29%)
Abnormal heart rate	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Aortic arch aneurysm	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Cardiac failure	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
Enlarged heart	Uneori (5–29%)
Heart attack	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Overriding aorta	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Sudden cardiac death	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)
Ventricular preexcitation	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal gait	Foarte des (80–99%)
Abnormal shape of nervous system	Foarte des (80–99%)
Abnormal social behavior	Foarte des (80–99%)
Abnormal speech pattern	Foarte des (80–99%)
Abnormality of balance	Foarte des (80–99%)
Abnormality of extrapyramidal motor function	Foarte des (80–99%)
Anxiety	Foarte des (80–99%)
Ataxia	Foarte des (80–99%)
Depression	Foarte des (80–99%)
Dysgraphia	Foarte des (80–99%)
Fear of loud sounds	Foarte des (80–99%)
Hyperacusis	Foarte des (80–99%)
Increased reflexes	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Involuntary movements	Foarte des (80–99%)
Lack of coordination of movement	Foarte des (80–99%)
Overfriendliness	Foarte des (80–99%)
Tremor	Foarte des (80–99%)
Attention deficit	Des (30–79%)
Autism	Des (30–79%)
Difficulty staying or falling asleep	Des (30–79%)
Obsessive compulsive behavior	Des (30–79%)
Abnormal diencephalon morphology	Uneori (5–29%)
Atrophy/Degeneration involving the corticospinal tracts	Uneori (5–29%)
Chiari malformation	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Peripheral neuropathy	Uneori (5–29%)
Postural tremor	Uneori (5–29%)
Spina bifida occulta	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormality of the neck	Foarte des (80–99%)
Abnormally large tongue	Foarte des (80–99%)
Broad forehead	Foarte des (80–99%)
Coarse facial features	Foarte des (80–99%)
Drooping lower lip	Foarte des (80–99%)
Elf-like facial appearance	Foarte des (80–99%)
Eye folds	Foarte des (80–99%)
Full lower lip	Foarte des (80–99%)
High forehead	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Long philtrum	Foarte des (80–99%)
Narrow face	Foarte des (80–99%)
Narrow opening between the eyelids	Foarte des (80–99%)
Open bite	Foarte des (80–99%)
Periorbital edema	Foarte des (80–99%)
Pointed chin	Foarte des (80–99%)
Short nose	Foarte des (80–99%)
Wide mouth	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Abnormal tooth enamel	Des (30–79%)
Abnormality of dental shape	Des (30–79%)
Abnormally small head	Des (30–79%)
Bad bite	Des (30–79%)
Cheekbone underdevelopment	Des (30–79%)
Decreased size of tooth	Des (30–79%)
Failure of development of between one and six teeth	Des (30–79%)
Dental cavities	Uneori (5–29%)
Gum enlargement	Uneori (5–29%)
Increased nuchal translucency	Uneori (5–29%)
Retinal arteriolar tortuosity	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Severe farsightedness	Foarte des (80–99%)
Slow decrease in sharpness of vision	Foarte des (80–99%)
Blind spot located at fixation point	Des (30–79%)
Blurred vision	Des (30–79%)
Centrocecal scotoma	Des (30–79%)
Cross-eyed	Des (30–79%)
Nystagmus-induced head nodding	Des (30–79%)
Optic atrophy	Des (30–79%)
Progressive loss of vision	Des (30–79%)
Visual impairment	Des (30–79%)
Abnormal color vision	Uneori (5–29%)
Abnormal electroretinogram	Uneori (5–29%)
Abnormality of tear production	Uneori (5–29%)
Abnormality of visual evoked potentials	Uneori (5–29%)
Absent/small iris	Uneori (5–29%)
Blue eyes	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Corneal opacity	Uneori (5–29%)
Enlarged cornea	Uneori (5–29%)
Flat cornea	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Posterior embryotoxon	Uneori (5–29%)
Reduced contrast sensitivity	Uneori (5–29%)
Retinal nerve fiber edema	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal shape of pelvic girdle bone	Foarte des (80–99%)
Hunched back	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Joint stiffness	Des (30–79%)
Low muscle tone	Des (30–79%)
Prominent swayback	Des (30–79%)
Rounded shoulders	Des (30–79%)
Abnormal vertebral body morphology	Uneori (5–29%)
Delayed bone maturation	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Fusion of joints	Uneori (5–29%)
Increased bone mineral density	Uneori (5–29%)
Muscle tissue disease	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Osteoporosis	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Vertebral segmentation defect	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the bladder	Des (30–79%)
Pelvic kidney	Des (30–79%)
Renal failure	Des (30–79%)
Abnormal tubulointerstitial morphology	Uneori (5–29%)
Bladder diverticulum	Uneori (5–29%)
Frequent urinary tract infections	Uneori (5–29%)
Functional abnormality of male internal genitalia	Uneori (5–29%)
Increased calcium level in kidney	Uneori (5–29%)
Kidney stone	Uneori (5–29%)
Multiple kidney cysts	Uneori (5–29%)
Narrowing of the urethra	Uneori (5–29%)
Polycystic ovaries	Uneori (5–29%)
Small kidneys	Uneori (5–29%)
Underdeveloped penis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abdominal pain	Foarte des (80–99%)
Colonic diverticula	Des (30–79%)
Constipation	Des (30–79%)
Inguinal hernia	Des (30–79%)
Nausea and vomiting	Des (30–79%)
Abnormal connection between trachea and esophagus	Uneori (5–29%)
Abnormality of the mucous membrane layer of stomach	Uneori (5–29%)
Acid reflux	Uneori (5–29%)
Extra kidney	Uneori (5–29%)
Gallstones	Uneori (5–29%)
Malabsorption	Uneori (5–29%)
Rectum protrudes through anus	Uneori (5–29%)
Sore in the lining of gastrointestinal tract	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Bunion	Des (30–79%)
Curvature of little finger	Des (30–79%)
Dropped arches	Des (30–79%)
Knock knees	Des (30–79%)
Abnormality of the ankle	Uneori (5–29%)
Dislocated kneecap	Uneori (5–29%)
Fused forearm bones	Uneori (5–29%)
Inward turned thumb	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal fingernails	Des (30–79%)
Loose redundant skin	Des (30–79%)
Spinal dimple	Des (30–79%)
Underdeveloped toenails	Des (30–79%)
Abnormal fingerprints	Uneori (5–29%)
port-wine stain	Uneori (5–29%)
Prematurely aged appearance	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High blood calcium levels	Foarte des (80–99%)
Elevated blood creatine phosphokinase	Des (30–79%)
Elevated urine calcium levels	Des (30–79%)
High urine protein levels	Des (30–79%)
Abnormal circulating lipid concentration	Uneori (5–29%)
Noninsulin-dependent diabetes	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Foarte des (80–99%)
Large ears	Foarte des (80–99%)
Prominent ear	Foarte des (80–99%)
Chronic infections of the middle ear	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Uneori (5–29%)
Hypogonadotropic hypogonadism	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Abnormality of the voice	Foarte des (80–99%)
Hoarse voice	Foarte des (80–99%)
Inability to produce voice sounds	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight in infancy	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Obesity	Des (30–79%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Mitochondrial respiratory chain defects	Foarte des (80–99%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Joint pain	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu DNAJC30 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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