Požymiai

Su RMRP susiję požymiai

RNA component of mitochondrial RNA processing endoribonuclease

Žmogaus fenotipo ontologija sieja 165 požymių su RMRP, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Cone-shaped end part of finger bones	Visada
Delayed maturation of wrist bone	Visada
Disproportionately short upper portion of limb	Visada
Elbow flexion contracture	Visada
Flared wide portion of long bone	Visada
Irregular wide portion of a long bone	Visada
Metaphyseal dysplasia	Visada
Metaphyseal striations	Visada
Short foot	Visada
Short palm	Visada
Shortened long bone of hand	Visada
Abnormal shape of shaft of long bone	Labai dažnai (80–99%)
Abnormality of the outermost finger bone	Labai dažnai (80–99%)
Abnormality of the wide portion of a long bone	Labai dažnai (80–99%)
Bowed shankbone	Labai dažnai (80–99%)
Bowing of the long bones	Labai dažnai (80–99%)
Disproportionately short middle portion of limb	Labai dažnai (80–99%)
Limited elbow extension	Labai dažnai (80–99%)
Metaphyseal chondrodysplasia	Labai dažnai (80–99%)
Smaller or shorter than typical limbs	Labai dažnai (80–99%)
Thickening of shaft or central part of long bones	Labai dažnai (80–99%)
Coxa vara	Dažnai (30–79%)
Hip contracture	Dažnai (30–79%)
Outward bow-leggedness	Dažnai (30–79%)
Short toe	Kartais (5–29%)
Small hand	Kartais (5–29%)
Bowed thighbone	Neužfiksuota
Broad wide portion of long bone	Neužfiksuota
Cupping of wide portion of long bone of hand	Neužfiksuota
Metaphyseal cupping	Neužfiksuota
Short finger	Neužfiksuota
Short fingers or toes	Neužfiksuota

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormally large tongue	Visada
Decreased size of tooth	Visada
Beaked nose	Labai dažnai (80–99%)
Large face	Labai dažnai (80–99%)
Short neck	Labai dažnai (80–99%)
Sparse eyebrow	Labai dažnai (80–99%)
Abnormality of the palate	Dažnai (30–79%)
Big lower jaw	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
Gum enlargement	Dažnai (30–79%)
J-shaped sella turcica	Dažnai (30–79%)
Pointed chin	Dažnai (30–79%)
Prominent forehead	Dažnai (30–79%)
Sparse or absent eyebrows	Dažnai (30–79%)
Broad head shape	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Flat nose	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)
Failure of development of between one and six teeth	Neužfiksuota
Sparse eyelashes	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Fair hair	Labai dažnai (80–99%)
Hair loss	Labai dažnai (80–99%)
Sparse hair	Labai dažnai (80–99%)
Dry skin	Dažnai (30–79%)
Itching	Dažnai (30–79%)
Thickened skin	Dažnai (30–79%)
Spinal dimple	Kartais (5–29%)
Basal cell carcinoma	Retai (1–4 %)
Fine hair	Neužfiksuota
Sparse facial hair	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Abnormal lymphocyte morphology	Labai dažnai (80–99%)
Low blood neutrophil count	Labai dažnai (80–99%)
Elevated white blood count	Dažnai (30–79%)
High blood eosinophil count	Dažnai (30–79%)
Low number of red blood cells or hemoglobin	Dažnai (30–79%)
Cancer of lymphatic system	Kartais (5–29%)
Congenital hypoplastic anemia	Neužfiksuota
Decreased blood lymphocyte number	Neužfiksuota
Macrocytic anemia	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abnormality of the pancreas	Labai dažnai (80–99%)
Chronic diarrhea	Labai dažnai (80–99%)
Enlarged liver	Labai dažnai (80–99%)
Malabsorption	Dažnai (30–79%)
Absent/small abdominal wall muscles	Kartais (5–29%)
Enlarged colon lacking nerve cells	Kartais (5–29%)
Constipation	Retai (1–4 %)
Narrowing of anal opening	Retai (1–4 %)
Birth defect in which part of esophagus did not develop	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormal retinal pigmentation	Labai dažnai (80–99%)
Blue outer white part of eyeball	Labai dažnai (80–99%)
Cross-eyed	Labai dažnai (80–99%)
Severe farsightedness	Labai dažnai (80–99%)
Visual impairment	Labai dažnai (80–99%)
Close sighted	Dažnai (30–79%)
Absent/small eye	Kartais (5–29%)
Wide-set eyes	Neužfiksuota

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Red scaly skin caused by inflammatory skin disease	Labai dažnai (80–99%)
Severe combined immunodeficiency	Labai dažnai (80–99%)
Pneumonia	Dažnai (30–79%)
Recurrent infections	Dažnai (30–79%)
Autoimmunity	Kartais (5–29%)
Infection in blood stream	Kartais (5–29%)
Cellular immunodeficiency	Neužfiksuota
Susceptibility to chickenpox	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
EEG abnormality	Labai dažnai (80–99%)
Spinal dysraphism	Labai dažnai (80–99%)
Cervical cord compression	Dažnai (30–79%)
Diminished deep tendon reflex	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Cognitive impairment	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Visada
Disproportionate short-limb short stature	Labai dažnai (80–99%)
Faltering weight	Labai dažnai (80–99%)
Prenatal growth deficiency	Dažnai (30–79%)
Severe short stature	Dažnai (30–79%)
Absent pubertal growth spurt	Neužfiksuota
Neonatal short-limb short stature	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Narrowing of aortic valve	Visada
Abnormal cardiac septum morphology	Labai dažnai (80–99%)
Disease of the heart muscle	Labai dažnai (80–99%)
Swollen lymph nodes	Labai dažnai (80–99%)
Increased spleen size	Dažnai (30–79%)
Heart block	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Low blood calcium levels	Labai dažnai (80–99%)
Fever	Dažnai (30–79%)
Fluid retention	Dažnai (30–79%)
Mucopolysacchariduria	Dažnai (30–79%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Abnormality of chromosome stability	Kartais (5–29%)
Decreased circulating antibody level	Kartais (5–29%)
Impaired phytohemagglutinin-induced T lymphocyte transformation	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Desquamation of skin soon after birth	Dažnai (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Dažnai (30–79%)
Large ears	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Thyroid gland inflammation	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Narrowing of windpipe	Labai dažnai (80–99%)
Respiratory function loss	Labai dažnai (80–99%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Nephrotic syndrome	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su RMRP susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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