ORPHA:618891
Chronic neurovisceral acid sphingomyelinase deficiency
Synonyms: Chronic neurovisceral ASMD · NPD-A/B · Niemann-Pick disease type A/B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic neurovisceral acid sphingomyelinase deficiency | Chronic neurovisceral ASMD · NPD-A/B · Niemann-Pick disease type A/B |
| fr | Déficit en sphingomyélinase acide, forme neuro-viscérale chronique | ASMD neuro-viscérale chronique · Maladie de Niemann-Pick type A/B |
| de | Chronisch neuroviszerale saure Sphingomyelinase-Mangel | Chronisch neuroviszerale ASMD · NPD-A/B · Niemann-Pick-Krankheit Typ A/B |
| es | Deficiencia crónica de esfingomielinasa ácida neurovisceral | ASMD crónica neurovisceral · Enfermedad de Niemann-Pick tipo A/B |
| it | Deficit cronico di sfingomielinasi acida neuroviscerale | ASMD neuroviscerale cronico · Malattia di Niemann-Pick tipo A/B · NPD-A/B |
| nl | Chronische neuroviscerale deficiëntie van zure sfingomyelinase | Chronische neuroviscerale ASMD · NPD-A/B · Ziekte van Niemann-Pick type A/B |
| pt | Deficiência de esfingomielinase ácida neurovisceral crónica | ASMD neurovisceral crónica · Doença Niemann-Pick tipo A/B · NPD-A/B |
| pl | Przewlekły niedobór kwaśnej sfingomielinazy nerwowo-trzewnej | = en |
| cs | Chronický neuroviscerální deficit kyselé sfingomyelinázy | = en |
| uk | Хронічний нейровісцеральний дефіцит кислої сфінгомієлінази | Хронічний нейровісцеральний АСМД · Хвороба Німана-Піка, тип A/B · NPD-A/B |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 257200 | NTBT | validated | |
| OMIM | 607616 | NTBT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.0Y | NTBT | attributed | validated |
| MONDO | 0850058 | E | validated | |
| UMLS | C5539139 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:618899Acid sphingomyelinase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare respiratory diseases; rare transplant-related disorders - ORPHA:68385Neurometabolic disease
rare neurological diseases - ORPHA:477811Rare hypercholesterolemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases - ORPHA:371442Sphingolipidosis with epilepsy
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMPD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11120 | ENSG00000166311 | 607608 | 11p15.4 | sphingomyelin phosphodiesterase 1 | 15877209[PMID]_28406489[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 20301544[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
38 annotations · validated 2026-03-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0034300 | Decreased acid sphingomyelinase activity | |
| HP:0001399 | Hepatic failure | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001971 | Hypersplenism | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0001903 | Anemia | |
| HP:0001251 | Ataxia | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001510 | Growth delay | |
| HP:0001268 | Mental deterioration | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0001541 | Ascites | |
| HP:0000280 | Coarse facial features | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0000726 | Dementia | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001508 | Failure to thrive | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0001252 | Hypotonia | |
| HP:0003141 | Increased LDL cholesterol concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000369 | Low-set ears | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000639 | Nystagmus | |
| HP:0000938 | Osteopenia | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| Very rare (<4-1%) | ||
| HP:0000158 | Macroglossia | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 27198631[PMID]_41208004[PMID]_20301544[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/618891
- This record as JSON: /data/d/618891.json