Tunnused

Geeniga RMRP seotud tunnused

RNA component of mitochondrial RNA processing endoribonuclease

Inimese fenotüübi ontoloogia seostab geeniga RMRP 165 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Cone-shaped end part of finger bones	Alati
Delayed maturation of wrist bone	Alati
Disproportionately short upper portion of limb	Alati
Elbow flexion contracture	Alati
Flared wide portion of long bone	Alati
Irregular wide portion of a long bone	Alati
Metaphyseal dysplasia	Alati
Metaphyseal striations	Alati
Short foot	Alati
Short palm	Alati
Shortened long bone of hand	Alati
Abnormal shape of shaft of long bone	Väga sageli (80–99%)
Abnormality of the outermost finger bone	Väga sageli (80–99%)
Abnormality of the wide portion of a long bone	Väga sageli (80–99%)
Bowed shankbone	Väga sageli (80–99%)
Bowing of the long bones	Väga sageli (80–99%)
Disproportionately short middle portion of limb	Väga sageli (80–99%)
Limited elbow extension	Väga sageli (80–99%)
Metaphyseal chondrodysplasia	Väga sageli (80–99%)
Smaller or shorter than typical limbs	Väga sageli (80–99%)
Thickening of shaft or central part of long bones	Väga sageli (80–99%)
Coxa vara	Sageli (30–79%)
Hip contracture	Sageli (30–79%)
Outward bow-leggedness	Sageli (30–79%)
Short toe	Mõnikord (5–29%)
Small hand	Mõnikord (5–29%)
Bowed thighbone	Pole registreeritud
Broad wide portion of long bone	Pole registreeritud
Cupping of wide portion of long bone of hand	Pole registreeritud
Metaphyseal cupping	Pole registreeritud
Short finger	Pole registreeritud
Short fingers or toes	Pole registreeritud

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally large tongue	Alati
Decreased size of tooth	Alati
Beaked nose	Väga sageli (80–99%)
Large face	Väga sageli (80–99%)
Short neck	Väga sageli (80–99%)
Sparse eyebrow	Väga sageli (80–99%)
Abnormality of the palate	Sageli (30–79%)
Big lower jaw	Sageli (30–79%)
Depressed nasal bridge	Sageli (30–79%)
Gum enlargement	Sageli (30–79%)
J-shaped sella turcica	Sageli (30–79%)
Pointed chin	Sageli (30–79%)
Prominent forehead	Sageli (30–79%)
Sparse or absent eyebrows	Sageli (30–79%)
Broad head shape	Mõnikord (5–29%)
Eye folds	Mõnikord (5–29%)
Flat nose	Mõnikord (5–29%)
Nasal tip, upturned	Mõnikord (5–29%)
Wide nasal bridge	Mõnikord (5–29%)
Failure of development of between one and six teeth	Pole registreeritud
Sparse eyelashes	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Fair hair	Väga sageli (80–99%)
Hair loss	Väga sageli (80–99%)
Sparse hair	Väga sageli (80–99%)
Dry skin	Sageli (30–79%)
Itching	Sageli (30–79%)
Thickened skin	Sageli (30–79%)
Spinal dimple	Mõnikord (5–29%)
Basal cell carcinoma	Harva (1–4%)
Fine hair	Pole registreeritud
Sparse facial hair	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Abnormal lymphocyte morphology	Väga sageli (80–99%)
Low blood neutrophil count	Väga sageli (80–99%)
Elevated white blood count	Sageli (30–79%)
High blood eosinophil count	Sageli (30–79%)
Low number of red blood cells or hemoglobin	Sageli (30–79%)
Cancer of lymphatic system	Mõnikord (5–29%)
Congenital hypoplastic anemia	Pole registreeritud
Decreased blood lymphocyte number	Pole registreeritud
Macrocytic anemia	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the pancreas	Väga sageli (80–99%)
Chronic diarrhea	Väga sageli (80–99%)
Enlarged liver	Väga sageli (80–99%)
Malabsorption	Sageli (30–79%)
Absent/small abdominal wall muscles	Mõnikord (5–29%)
Enlarged colon lacking nerve cells	Mõnikord (5–29%)
Constipation	Harva (1–4%)
Narrowing of anal opening	Harva (1–4%)
Birth defect in which part of esophagus did not develop	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormal retinal pigmentation	Väga sageli (80–99%)
Blue outer white part of eyeball	Väga sageli (80–99%)
Cross-eyed	Väga sageli (80–99%)
Severe farsightedness	Väga sageli (80–99%)
Visual impairment	Väga sageli (80–99%)
Close sighted	Sageli (30–79%)
Absent/small eye	Mõnikord (5–29%)
Wide-set eyes	Pole registreeritud

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Red scaly skin caused by inflammatory skin disease	Väga sageli (80–99%)
Severe combined immunodeficiency	Väga sageli (80–99%)
Pneumonia	Sageli (30–79%)
Recurrent infections	Sageli (30–79%)
Autoimmunity	Mõnikord (5–29%)
Infection in blood stream	Mõnikord (5–29%)
Cellular immunodeficiency	Pole registreeritud
Susceptibility to chickenpox	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
EEG abnormality	Väga sageli (80–99%)
Spinal dysraphism	Väga sageli (80–99%)
Cervical cord compression	Sageli (30–79%)
Diminished deep tendon reflex	Sageli (30–79%)
Global developmental delay	Sageli (30–79%)
Intellectual disability	Sageli (30–79%)
Cognitive impairment	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Alati
Disproportionate short-limb short stature	Väga sageli (80–99%)
Faltering weight	Väga sageli (80–99%)
Prenatal growth deficiency	Sageli (30–79%)
Severe short stature	Sageli (30–79%)
Absent pubertal growth spurt	Pole registreeritud
Neonatal short-limb short stature	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Narrowing of aortic valve	Alati
Abnormal cardiac septum morphology	Väga sageli (80–99%)
Disease of the heart muscle	Väga sageli (80–99%)
Swollen lymph nodes	Väga sageli (80–99%)
Increased spleen size	Sageli (30–79%)
Heart block	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Low blood calcium levels	Väga sageli (80–99%)
Fever	Sageli (30–79%)
Fluid retention	Sageli (30–79%)
Mucopolysacchariduria	Sageli (30–79%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Abnormality of chromosome stability	Mõnikord (5–29%)
Decreased circulating antibody level	Mõnikord (5–29%)
Impaired phytohemagglutinin-induced T lymphocyte transformation	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Desquamation of skin soon after birth	Sageli (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Sageli (30–79%)
Large ears	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Thyroid gland inflammation	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Narrowing of windpipe	Väga sageli (80–99%)
Respiratory function loss	Väga sageli (80–99%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Nephrotic syndrome	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 RMRP seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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