Traits

Traits linked to RPL35A

ribosomal protein L35a

The Human Phenotype Ontology links 61 trait to RPL35A: a feature seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Elevated red cell adenosine deaminase activity	Labai dažnai (80–99%)
Pure red cell aplasia	Labai dažnai (80–99%)
Erythroid hypoplasia	Dažnai (30–79%)
Increased mean corpuscular volume	Dažnai (30–79%)
Macrocytic dyserythropoietic anemia	Dažnai (30–79%)
Persistence of hemoglobin F	Dažnai (30–79%)
Reticulocytopenia	Dažnai (30–79%)
Decreased blood leukocyte number	Kartais (5–29%)
Myelodysplasia	Kartais (5–29%)
Normochromic anemia	Kartais (5–29%)
Acute myeloid leukemia	Retai (1–4 %)
Increased number of platelets in blood	Retai (1–4 %)
Low blood neutrophil count	Retai (1–4 %)
Low platelet count	Retai (1–4 %)
Macrocytic anemia	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormality of the head	Dažnai (30–79%)
Cleft lip	Kartais (5–29%)
Cleft soft palate	Kartais (5–29%)
High palate	Kartais (5–29%)
Short neck	Kartais (5–29%)
Webbed neck	Kartais (5–29%)
Abnormally small head	Retai (1–4 %)
Depressed nasal bridge	Retai (1–4 %)
Eye folds	Retai (1–4 %)
Little lower jaw	Retai (1–4 %)
Low frontal hairline	Retai (1–4 %)
Wide nasal bridge	Retai (1–4 %)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Abnormality of the thenar eminence	Kartais (5–29%)
Abnormality of the upper limb	Kartais (5–29%)
Absent thumb	Kartais (5–29%)
Finger-like thumb	Kartais (5–29%)
Partial duplication of the thumb bones	Kartais (5–29%)
Short thumb	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormality of the heart	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Radial artery aplasia	Kartais (5–29%)
Narrowing of aorta	Retai (1–4 %)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Clouding of the lens of the eye at birth	Retai (1–4 %)
Cross-eyed	Retai (1–4 %)
Developmental glaucoma	Retai (1–4 %)
Drooping upper eyelid	Retai (1–4 %)
Wide-set eyes	Retai (1–4 %)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Abnormality of the genitourinary system	Kartais (5–29%)
Absent kidney	Kartais (5–29%)
Horseshoe kidney	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Malignant genitourinary tract tumor	Retai (1–4 %)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Lethargy	Dažnai (30–79%)
Neurodevelopmental delay	Kartais (5–29%)
Global developmental delay	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Growth delay	Dažnai (30–79%)
Small for gestational age	Dažnai (30–79%)
Short stature	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Low-set ears	Retai (1–4 %)
Small ears	Retai (1–4 %)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
High shoulder blade	Kartais (5–29%)
Bone cell cancer	Retai (1–4 %)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Adenocarcinoma of the colon	Retai (1–4 %)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Paleness	Dažnai (30–79%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Nonimmune hydrops fetalis	Retai (1–4 %)

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to RPL35A and how often each is seen. Find out more at hpo.jax.org.

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