Trăsături

Trăsături asociate cu PROKR2

prokineticin receptor 2

Human Phenotype Ontology asociază 107 trăsături cu PROKR2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

PROKR2

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Decreased testicular size	Întotdeauna
Primary amenorrhea	Întotdeauna
Short penis	Întotdeauna
Abnormal erection	Foarte des (80–99%)
Absent sperm in semen	Foarte des (80–99%)
Decreased fertility	Foarte des (80–99%)
Difficulty getting a full erection	Foarte des (80–99%)
Increased female sex drive	Foarte des (80–99%)
Non-obstructive azoospermia	Foarte des (80–99%)
Underdeveloped penis	Foarte des (80–99%)
Undescended testes	Foarte des (80–99%)
Previous menstrual periods stop	Des (30–79%)
Small uterus	Des (30–79%)
Underdeveloped ovary	Des (30–79%)
Abnormal morphology of female internal genitalia	Uneori (5–29%)
Absent kidney	Uneori (5–29%)
Dyspareunia	Uneori (5–29%)
Infertility	Uneori (5–29%)
Absent kidney on one side	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Absent septum pellucidum	Des (30–79%)
Agenesis of corpus callosum	Des (30–79%)
Anxiety	Des (30–79%)
Aplasia of the olfactory bulb	Des (30–79%)
Depression	Des (30–79%)
Epilepsy	Des (30–79%)
Paralysis or weakness of one side of body	Des (30–79%)
Abnormal gait	Uneori (5–29%)
Absent/small cerebellum	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Autism	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Difficulty sleeping	Uneori (5–29%)
Extreme thirst	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Hand mirror movements	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Leg paralysis	Uneori (5–29%)
Tremor	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Ectopic posterior pituitary	Întotdeauna
Hypogonadotropic hypogonadism	Întotdeauna
Abnormality of the hypothalamus-pituitary axis	Foarte des (80–99%)
Absence of pubertal development	Foarte des (80–99%)
Absence of secondary sex characteristics	Foarte des (80–99%)
Anterior hypopituitarism	Foarte des (80–99%)
Decreased function of male gonad	Foarte des (80–99%)
Decreased serum testosterone level	Foarte des (80–99%)
Delayed puberty	Foarte des (80–99%)
Female hypogonadism	Foarte des (80–99%)
Gonadotropin-releasing hormone deficiency	Foarte des (80–99%)
Underactive thyroid	Des (30–79%)
Underdeveloped pituitary gland	Des (30–79%)
Diabetes insipidus	Uneori (5–29%)
Small adrenal glands	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Delayed bone maturation	Foarte des (80–99%)
Low solidness and mass of the bones	Des (30–79%)
Osteopenia	Des (30–79%)
Osteoporosis	Des (30–79%)
Abnormal skeletal development	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Hypermobility of all joints	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)
Muscle weakness	Uneori (5–29%)
Permanent flexion of the finger or toe	Uneori (5–29%)
Recurrent fractures	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Optic nerve hypoplasia	Foarte des (80–99%)
Septo-optic dysplasia	Foarte des (80–99%)
Visual impairment	Foarte des (80–99%)
Cross-eyed	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Abnormal color vision	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)
Abnormally close eyes	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Hyposmia	Foarte des (80–99%)
Lost smell	Foarte des (80–99%)
Cleft palate	Des (30–79%)
Abnormal dentition	Uneori (5–29%)
Decreased number of teeth	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Cleft upper lip	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Limited armpit hair	Întotdeauna
Sparse pubic hair	Întotdeauna
Sparse body hair	Foarte des (80–99%)
Decreased ability to sweat	Uneori (5–29%)
Dry skin	Uneori (5–29%)
Ichthyosis	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Eunuchoid habitus	Foarte des (80–99%)
Faltering weight	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Abnormality of body height	Des (30–79%)
Obesity	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Dropped arches	Des (30–79%)
High-arched foot	Uneori (5–29%)
Increased mobility in finger joint	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Underdeveloped breasts	Foarte des (80–99%)
Wide-spaced nipples	Foarte des (80–99%)
Enlarged male breast	Des (30–79%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormal connection between trachea and esophagus	Uneori (5–29%)
Birth defect in which part of esophagus did not develop	Uneori (5–29%)
Constipation	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Congenital sensorineural hearing impairment	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Abnormality of the voice	Foarte des (80–99%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Low blood sugar	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 PROKR2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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