Trăsături

Trăsături asociate cu RMRP

RNA component of mitochondrial RNA processing endoribonuclease

Human Phenotype Ontology asociază 165 trăsături cu RMRP, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Cone-shaped end part of finger bones	Întotdeauna
Delayed maturation of wrist bone	Întotdeauna
Disproportionately short upper portion of limb	Întotdeauna
Elbow flexion contracture	Întotdeauna
Flared wide portion of long bone	Întotdeauna
Irregular wide portion of a long bone	Întotdeauna
Metaphyseal dysplasia	Întotdeauna
Metaphyseal striations	Întotdeauna
Short foot	Întotdeauna
Short palm	Întotdeauna
Shortened long bone of hand	Întotdeauna
Abnormal shape of shaft of long bone	Foarte des (80–99%)
Abnormality of the outermost finger bone	Foarte des (80–99%)
Abnormality of the wide portion of a long bone	Foarte des (80–99%)
Bowed shankbone	Foarte des (80–99%)
Bowing of the long bones	Foarte des (80–99%)
Disproportionately short middle portion of limb	Foarte des (80–99%)
Limited elbow extension	Foarte des (80–99%)
Metaphyseal chondrodysplasia	Foarte des (80–99%)
Smaller or shorter than typical limbs	Foarte des (80–99%)
Thickening of shaft or central part of long bones	Foarte des (80–99%)
Coxa vara	Des (30–79%)
Hip contracture	Des (30–79%)
Outward bow-leggedness	Des (30–79%)
Short toe	Uneori (5–29%)
Small hand	Uneori (5–29%)
Bowed thighbone	Neînregistrat
Broad wide portion of long bone	Neînregistrat
Cupping of wide portion of long bone of hand	Neînregistrat
Metaphyseal cupping	Neînregistrat
Short finger	Neînregistrat
Short fingers or toes	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Barrel-shaped chest	Întotdeauna
Excessive inward curvature of lower spine	Întotdeauna
Thoracic kyphosis	Întotdeauna
Abnormal bone maturation	Foarte des (80–99%)
Abnormal bone maturation of vertebra	Foarte des (80–99%)
Abnormal shape of end part of bone	Foarte des (80–99%)
Abnormal skeletal development	Foarte des (80–99%)
Abnormal vertebral body morphology	Foarte des (80–99%)
Biconvex vertebral bodies	Foarte des (80–99%)
Double-Jointed	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Prominent swayback	Foarte des (80–99%)
Scoliosis	Foarte des (80–99%)
Abnormality of the hip bone	Des (30–79%)
Atlantoaxial dislocation	Des (30–79%)
Flaring of lower rib cage	Des (30–79%)
Flattened vertebrae	Des (30–79%)
Narrow chest	Des (30–79%)
Prominent sternum	Des (30–79%)
Abnormal shape of pelvic girdle bone	Uneori (5–29%)
Abnormality of the ribs	Uneori (5–29%)
Advanced bone age	Uneori (5–29%)
Asymmetric chest	Uneori (5–29%)
Delayed bone maturation	Uneori (5–29%)
Hypoplasia of the odontoid process	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)
Shorter than typical length between neck and abdomen	Uneori (5–29%)
Cervical subluxation	Neînregistrat
Narrow vertebral interpedicular distance	Neînregistrat
Short long bone	Neînregistrat
Small end part of bone	Neînregistrat
Small wings of the pelvic girdle	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally large tongue	Întotdeauna
Decreased size of tooth	Întotdeauna
Beaked nose	Foarte des (80–99%)
Large face	Foarte des (80–99%)
Short neck	Foarte des (80–99%)
Sparse eyebrow	Foarte des (80–99%)
Abnormality of the palate	Des (30–79%)
Big lower jaw	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Gum enlargement	Des (30–79%)
J-shaped sella turcica	Des (30–79%)
Pointed chin	Des (30–79%)
Prominent forehead	Des (30–79%)
Sparse or absent eyebrows	Des (30–79%)
Broad head shape	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Flat nose	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)
Failure of development of between one and six teeth	Neînregistrat
Sparse eyelashes	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Fair hair	Foarte des (80–99%)
Hair loss	Foarte des (80–99%)
Sparse hair	Foarte des (80–99%)
Dry skin	Des (30–79%)
Itching	Des (30–79%)
Thickened skin	Des (30–79%)
Spinal dimple	Uneori (5–29%)
Basal cell carcinoma	Rar (1–4%)
Fine hair	Neînregistrat
Sparse facial hair	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormal lymphocyte morphology	Foarte des (80–99%)
Low blood neutrophil count	Foarte des (80–99%)
Elevated white blood count	Des (30–79%)
High blood eosinophil count	Des (30–79%)
Low number of red blood cells or hemoglobin	Des (30–79%)
Cancer of lymphatic system	Uneori (5–29%)
Congenital hypoplastic anemia	Neînregistrat
Decreased blood lymphocyte number	Neînregistrat
Macrocytic anemia	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormality of the pancreas	Foarte des (80–99%)
Chronic diarrhea	Foarte des (80–99%)
Enlarged liver	Foarte des (80–99%)
Malabsorption	Des (30–79%)
Absent/small abdominal wall muscles	Uneori (5–29%)
Enlarged colon lacking nerve cells	Uneori (5–29%)
Constipation	Rar (1–4%)
Narrowing of anal opening	Rar (1–4%)
Birth defect in which part of esophagus did not develop	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormal retinal pigmentation	Foarte des (80–99%)
Blue outer white part of eyeball	Foarte des (80–99%)
Cross-eyed	Foarte des (80–99%)
Severe farsightedness	Foarte des (80–99%)
Visual impairment	Foarte des (80–99%)
Close sighted	Des (30–79%)
Absent/small eye	Uneori (5–29%)
Wide-set eyes	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Red scaly skin caused by inflammatory skin disease	Foarte des (80–99%)
Severe combined immunodeficiency	Foarte des (80–99%)
Pneumonia	Des (30–79%)
Recurrent infections	Des (30–79%)
Autoimmunity	Uneori (5–29%)
Infection in blood stream	Uneori (5–29%)
Cellular immunodeficiency	Neînregistrat
Susceptibility to chickenpox	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
EEG abnormality	Foarte des (80–99%)
Spinal dysraphism	Foarte des (80–99%)
Cervical cord compression	Des (30–79%)
Diminished deep tendon reflex	Des (30–79%)
Global developmental delay	Des (30–79%)
Intellectual disability	Des (30–79%)
Cognitive impairment	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Întotdeauna
Disproportionate short-limb short stature	Foarte des (80–99%)
Faltering weight	Foarte des (80–99%)
Prenatal growth deficiency	Des (30–79%)
Severe short stature	Des (30–79%)
Absent pubertal growth spurt	Neînregistrat
Neonatal short-limb short stature	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Narrowing of aortic valve	Întotdeauna
Abnormal cardiac septum morphology	Foarte des (80–99%)
Disease of the heart muscle	Foarte des (80–99%)
Swollen lymph nodes	Foarte des (80–99%)
Increased spleen size	Des (30–79%)
Heart block	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Low blood calcium levels	Foarte des (80–99%)
Fever	Des (30–79%)
Fluid retention	Des (30–79%)
Mucopolysacchariduria	Des (30–79%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Abnormality of chromosome stability	Uneori (5–29%)
Decreased circulating antibody level	Uneori (5–29%)
Impaired phytohemagglutinin-induced T lymphocyte transformation	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Desquamation of skin soon after birth	Des (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)
Large ears	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Thyroid gland inflammation	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Narrowing of windpipe	Foarte des (80–99%)
Respiratory function loss	Foarte des (80–99%)

Abnormality of the genitourinary system

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

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 RMRP și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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