Požymiai

Su SMPD1 susiję požymiai

sphingomyelin phosphodiesterase 1

Žmogaus fenotipo ontologija sieja 115 požymių su SMPD1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

SMPD1

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Delayed CNS myelination	Visada
Global developmental delay	Visada
Inability to walk	Visada
Irritability	Visada
Loss of developmental milestones	Visada
Ataxia	Dažnai (30–79%)
Developmental stagnation	Dažnai (30–79%)
Mental deterioration	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Worsening neurological symptoms	Dažnai (30–79%)
Abnormality of extrapyramidal motor function	Kartais (5–29%)
Abnormality of the nervous system	Kartais (5–29%)
Delayed motor skills	Kartais (5–29%)
Dementia	Kartais (5–29%)
Difficulty sleeping	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Intellectual disability	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Neurodevelopmental delay	Kartais (5–29%)
Peripheral neuropathy	Kartais (5–29%)
Abnormality of the cerebellum	Retai (1–4 %)
Apraxia	Retai (1–4 %)
Attention deficit	Retai (1–4 %)
Behavioral abnormality	Retai (1–4 %)
Bipolar disorder	Retai (1–4 %)
Brief seizures with staring spells	Retai (1–4 %)
Depression	Retai (1–4 %)
Specific learning disability	Retai (1–4 %)
Decreased reflex response	Neužfiksuota
Involuntary writhing movements in fingers, hands, toes, and feet	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Enlarged liver	Visada
Feeding difficulties in infancy	Visada
Liver failure	Labai dažnai (80–99%)
Abdominal bloating	Dažnai (30–79%)
Decreased liver function	Dažnai (30–79%)
Fatal liver failure in infancy	Dažnai (30–79%)
Abdominal pain	Kartais (5–29%)
Accumulation of fluid in the abdomen	Kartais (5–29%)
Constipation	Kartais (5–29%)
Diarrhea	Kartais (5–29%)
Episodic vomiting	Kartais (5–29%)
Hepatic fibrosis	Kartais (5–29%)
Jaundice	Kartais (5–29%)
Prolonged yellowing of skin in newborn	Kartais (5–29%)
Gallstones	Retai (1–4 %)
Liver cancer	Retai (1–4 %)
Scar tissue replaces healthy tissue in the liver	Retai (1–4 %)
Belly sticks out	Neužfiksuota
Vomiting	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Decreased acid sphingomyelinase activity	Visada
Elevated circulating alanine aminotransferase concentration	Visada
Elevated circulating aspartate aminotransferase concentration	Visada
Decreased circulating high-density lipoprotein cholesterol	Labai dažnai (80–99%)
Elevated tissue sphingomyelin concentration	Labai dažnai (80–99%)
High liver enzymes	Labai dažnai (80–99%)
Increased plasma triglycerides	Labai dažnai (80–99%)
Abnormal circulating lipid concentration	Dažnai (30–79%)
Elevated lipids in blood	Dažnai (30–79%)
Increased circulating LDL level	Dažnai (30–79%)
Elevated circulating lysosphingomyelin concentration	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Abnormality of the coagulation cascade	Dažnai (30–79%)
Low number of red blood cells or hemoglobin	Dažnai (30–79%)
Low platelet count	Dažnai (30–79%)
Acute promyelocytic leukemia	Retai (1–4 %)
Autoimmune thrombocytopenia	Retai (1–4 %)
Bleeding tendency	Retai (1–4 %)
Bone-marrow foam cells	Neužfiksuota
Microcytic anemia	Neužfiksuota
Sea-blue histiocytosis	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Muscle degeneration	Visada
Delayed bone maturation	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Osteopenia	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Spontaneous fracture	Retai (1–4 %)
Muscle weakness	Neužfiksuota
Rigidity	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormality in area between air sacs in lung	Labai dažnai (80–99%)
Abnormal blood gas level	Dažnai (30–79%)
Decreased DLCO	Dažnai (30–79%)
Interstitial pneumonitis	Dažnai (30–79%)
Progressive pulmonary function impairment	Dažnai (30–79%)
Respiratory failure	Dažnai (30–79%)
Respiratory failure requiring assisted ventilation	Kartais (5–29%)
Breathing difficulty	Neužfiksuota
Diffuse reticular or finely nodular infiltrations	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Enlarged liver and spleen	Labai dažnai (80–99%)
Hypersplenism	Labai dažnai (80–99%)
Increased spleen size	Labai dažnai (80–99%)
Foam cells with lamellar inclusion bodies	Dažnai (30–79%)
Abnormal heart valve morphology	Retai (1–4 %)
Plaque build-up in arteries supplying blood to heart	Retai (1–4 %)
Swollen lymph nodes	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Cherry red spot of the macula	Visada
Big calvaria	Kartais (5–29%)
Coarse facial features	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Abnormally large tongue	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Visada
Faltering weight in infancy	Labai dažnai (80–99%)
Growth delay	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Growth delay as children	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent pneumonia	Dažnai (30–79%)
Recurrent respiratory infections	Dažnai (30–79%)
Systemic lupus erythematosus	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Low-set ears	Kartais (5–29%)
Sensorineural hearing impairment	Retai (1–4 %)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Delayed puberty	Dažnai (30–79%)
Decreased circulating insulin-like growth factor 1 concentration	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Abnormal macular morphology	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Yellow bumps of fatty deposits on skin	Neužfiksuota

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Joint pain	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 SMPD1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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