ORPHA:77292
Infantile neurovisceral acid sphingomyelinase deficiency
Synonyms: Infantile neurovisceral ASMD · NPD-A · Niemann-Pick disease type A
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, autosomal recessive, acid sphingomyelinase deficiency characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, interstitial lung disease and rapidly progressive neurodegenerative disorders.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile neurovisceral acid sphingomyelinase deficiency | Infantile neurovisceral ASMD · NPD-A · Niemann-Pick disease type A |
| fr | Déficit en sphingomyélinase acide, forme neuroviscérale infantile | ASMD neuroviscérale infantile · Maladie de Niemann-Pick type A |
| de | Saure Sphingomyelinase-Mangel, infantile Form | Infantile neuroviszerale ASMD · NPD-A · Niemann-Pick-Krankheit Typ A |
| es | Deficiencia de esfingomielinasa ácida neurovisceral infantil | ASMD neurovisceral infantil · Enfermedad de Niemann-Pick tipo A |
| it | Deficit di sfingomielinasi acida neuroviscerale infantile | ASMD neuroviscerale infantile · Malattia di Niemann-Pick tipo A · NPD-A |
| nl | Infantiele neuroviscerale deficiëntie van zure sfingomyelinase | Infantiele neuroviscerale ASMD · NPD-A · Ziekte van Niemann-Pick type A |
| pt | Deficiência de esfingomielinase ácida neurovisceral da infância | ASMD neurovisceral da infância · Doença de Niemann-Pick tipo A |
| pl | Choroba Niemanna i Picka typu A | Niemowlęcy niedobór kwaśnej sfingomielinazy nerwowo-trzewnej |
| cs | Infantilní neuroviscerální deficit kyselé sfingomyelinázy | Niemann-Pickova choroba, typ A |
| uk | Дефіцит нейровісцеральної кислої сфінгомієлінази у новонароджених | Інфантильний нейровісцеральний ASMD · Хвороба Німана-Піка, тип А · NPD-A |
| zh | 尼曼-匹克病A型 | |
| tr | Niemann-Pick hastalığı tip A |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 257200 | E | validated | |
| ICD-10 | E75.2 | NTBT | inclusion | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0009756 | E | validated | |
| MeSH | D052536 | E | validated | |
| UMLS | C0268242 | E | validated | |
| GARD | 7206 | 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 (5):
- 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 genetic diseases; rare neurological diseases - ORPHA:716427Rare disorder with progressive predominantly macular disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:371442Sphingolipidosis with epilepsy
rare genetic diseases; 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) (loss of function) in | Assessed | HGNC:11120 | ENSG00000166311 | 607608 | 11p15.4 | sphingomyelin phosphodiesterase 1 | 19405096[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | 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
27 annotations · validated 2026-03-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0034300 | Decreased acid sphingomyelinase activity | |
| Very frequent (99-80%) | ||
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:6000292 | Elevated tissue sphingomyelin concentration | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001433 | Hepatosplenomegaly | |
| Frequent (79-30%) | ||
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0001903 | Anemia | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0007281 | Developmental stagnation | |
| HP:0006583 | Fatal liver failure in infancy | |
| HP:0003609 | Foam cells with lamellar inclusion bodies | |
| HP:0001252 | Hypotonia | |
| HP:0001270 | Motor delay | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002878 | Respiratory failure | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0001541 | Ascites | |
| HP:0002019 | Constipation | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0002014 | Diarrhea | |
| HP:0002572 | Episodic vomiting | |
| HP:0000737 | Irritability | |
| HP:0000952 | Jaundice | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002360 | Sleep abnormality | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301544[PMID]_40414757[PMID]_32714837[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/77292
- This record as JSON: /data/d/77292.json