chronic neurovisceral acid sphingomyelinase deficiency
MONDO:0850058Mondo
Findings
No curated finding names chronic neurovisceral acid sphingomyelinase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal pulmonary interstitial morphologyHPOHP:0006530
- Very frequent (80% to 99% of cases)
- Decreased acid sphingomyelinase activityHPOHP:0034300
- Very frequent (80% to 99% of cases)
- Hepatic failureHPOHP:0001399
- Very frequent (80% to 99% of cases)
- HepatosplenomegalyHPOHP:0001433
- Very frequent (80% to 99% of cases)
- HypersplenismHPOHP:0001971
- Very frequent (80% to 99% of cases)
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Cherry red spot of the maculaHPOHP:0010729
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
Show the remaining 26
- Mental deteriorationHPOHP:0001268
- Frequent (30% to 79% of cases)
- Recurrent pneumoniaHPOHP:0006532
- Frequent (30% to 79% of cases)
- ThrombocytopeniaHPOHP:0001873
- Frequent (30% to 79% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Occasional (5% to 29% of cases)
- AscitesHPOHP:0001541
- Occasional (5% to 29% of cases)
Where it sits
- A kind of