Trăsături

Trăsături asociate cu SMPD1

sphingomyelin phosphodiesterase 1

Human Phenotype Ontology asociază 115 trăsături cu SMPD1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SMPD1

Abnormality of the nervous system

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

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged liver	Întotdeauna
Feeding difficulties in infancy	Întotdeauna
Liver failure	Foarte des (80–99%)
Abdominal bloating	Des (30–79%)
Decreased liver function	Des (30–79%)
Fatal liver failure in infancy	Des (30–79%)
Abdominal pain	Uneori (5–29%)
Accumulation of fluid in the abdomen	Uneori (5–29%)
Constipation	Uneori (5–29%)
Diarrhea	Uneori (5–29%)
Episodic vomiting	Uneori (5–29%)
Hepatic fibrosis	Uneori (5–29%)
Jaundice	Uneori (5–29%)
Prolonged yellowing of skin in newborn	Uneori (5–29%)
Gallstones	Rar (1–4%)
Liver cancer	Rar (1–4%)
Scar tissue replaces healthy tissue in the liver	Rar (1–4%)
Belly sticks out	Neînregistrat
Vomiting	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Decreased acid sphingomyelinase activity	Întotdeauna
Elevated circulating alanine aminotransferase concentration	Întotdeauna
Elevated circulating aspartate aminotransferase concentration	Întotdeauna
Decreased circulating high-density lipoprotein cholesterol	Foarte des (80–99%)
Elevated tissue sphingomyelin concentration	Foarte des (80–99%)
High liver enzymes	Foarte des (80–99%)
Increased plasma triglycerides	Foarte des (80–99%)
Abnormal circulating lipid concentration	Des (30–79%)
Elevated lipids in blood	Des (30–79%)
Increased circulating LDL level	Des (30–79%)
Elevated circulating lysosphingomyelin concentration	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormality of the coagulation cascade	Des (30–79%)
Low number of red blood cells or hemoglobin	Des (30–79%)
Low platelet count	Des (30–79%)
Acute promyelocytic leukemia	Rar (1–4%)
Autoimmune thrombocytopenia	Rar (1–4%)
Bleeding tendency	Rar (1–4%)
Bone-marrow foam cells	Neînregistrat
Microcytic anemia	Neînregistrat
Sea-blue histiocytosis	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Muscle degeneration	Întotdeauna
Delayed bone maturation	Des (30–79%)
Low muscle tone	Des (30–79%)
Osteopenia	Des (30–79%)
Osteoporosis	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Spontaneous fracture	Rar (1–4%)
Muscle weakness	Neînregistrat
Rigidity	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality in area between air sacs in lung	Foarte des (80–99%)
Abnormal blood gas level	Des (30–79%)
Decreased DLCO	Des (30–79%)
Interstitial pneumonitis	Des (30–79%)
Progressive pulmonary function impairment	Des (30–79%)
Respiratory failure	Des (30–79%)
Respiratory failure requiring assisted ventilation	Uneori (5–29%)
Breathing difficulty	Neînregistrat
Diffuse reticular or finely nodular infiltrations	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Enlarged liver and spleen	Foarte des (80–99%)
Hypersplenism	Foarte des (80–99%)
Increased spleen size	Foarte des (80–99%)
Foam cells with lamellar inclusion bodies	Des (30–79%)
Abnormal heart valve morphology	Rar (1–4%)
Plaque build-up in arteries supplying blood to heart	Rar (1–4%)
Swollen lymph nodes	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Cherry red spot of the macula	Întotdeauna
Big calvaria	Uneori (5–29%)
Coarse facial features	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Abnormally large tongue	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Întotdeauna
Faltering weight in infancy	Foarte des (80–99%)
Growth delay	Des (30–79%)
Short stature	Des (30–79%)
Growth delay as children	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent pneumonia	Des (30–79%)
Recurrent respiratory infections	Des (30–79%)
Systemic lupus erythematosus	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Uneori (5–29%)
Sensorineural hearing impairment	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Delayed puberty	Des (30–79%)
Decreased circulating insulin-like growth factor 1 concentration	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Abnormal macular morphology	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Yellow bumps of fatty deposits on skin	Neînregistrat

Constitutional symptom

Trăsătură	Cât de frecvent apare
Joint pain	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 SMPD1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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