ORPHA:77293
Chronic visceral acid sphingomyelinase deficiency
Synonyms: Chronic visceral ASMD · NPD-B · Niemann-Pick disease type B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare autosomal recessive, chronic, acid sphingomyelinase deficiency characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, interstitial lung disease and absence of neurodegenerative disorders.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic visceral acid sphingomyelinase deficiency | Chronic visceral ASMD · NPD-B · Niemann-Pick disease type B |
| fr | Déficit en sphingomyélinase acide, forme viscérale chronique | ASMD viscérale chronique · Maladie de Niemann-Pick type B |
| de | Saure Sphingomyelinase-Mangel, chronisch-viszerale Form | Chronische viszerale ASMD · NPD-B · Niemann-Pick-Krankheit Typ B |
| es | Deficiencia de esfingomielinasa ácida visceral crónica | ASMD visceral crónica · Enfermedad de Niemann-Pick tipo B |
| it | Deficit cronico di sfingomielinasi acida viscerale | ASMD viscerale cronico · Malattia di Niemann-Pick tipo B · NPD-B |
| nl | Chronische viscerale deficiëntie van zure sfingomyelinase | Chronische viscerale ASMD · NPD-B · Ziekte van Niemann-Pick type B |
| pt | Deficiência de esfingomielinase ácida visceral crónica | ASMD visceral crónica · Doença de Niemann-Pick tipo B |
| pl | Choroba Niemanna i Picka typu B | Przewlekły niedobór kwaśnej sfingomielinazy trzewnej |
| cs | Chronický viscerální deficit kyselé sfingomyelinázy | Niemann-Pickova choroba, typ B |
| uk | Хронічний дефіцит вісцеральної кислої сфінгомієлінази | Хронічний вісцеральний ASMD · Хвороба Німана-Піка, тип В · NPD-B |
| zh | 尼曼-匹克病B型 | |
| tr | Niemann-Pick hastalığı tip B |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607616 | E | validated | |
| ICD-10 | E75.2 | NTBT | inclusion | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0011871 | E | validated | |
| MeSH | D052537 | E | validated | |
| UMLS | C0268243 | E | validated | |
| GARD | 10729 | 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:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:477811Rare hypercholesterolemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99022OBSOLETE: Niemann-Pick disease type E referred to · inactive
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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 | 0.4 / 100 000 | Europe | Value and class | Not yet validated | 23412609[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | 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
47 annotations · validated 2019-06-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012415 | Abnormal blood gas level | |
| HP:0003119 | Abnormal circulating lipid concentration | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0001410 | Decreased liver function | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002240 | Hepatomegaly | |
| HP:0003077 | Hyperlipidemia | |
| HP:0001971 | Hypersplenism | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0003141 | Increased LDL cholesterol concentration | |
| HP:0006515 | Interstitial pneumonitis | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0006520 | Progressive pulmonary function impairment | |
| HP:0004322 | Short stature | |
| HP:0001744 | Splenomegaly | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0002194 | Delayed gross motor development | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| Very rare (<4-1%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0004836 | Acute promyelocytic leukemia | |
| HP:0002186 | Apraxia | |
| HP:0001251 | Ataxia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0001081 | Cholelithiasis | |
| HP:0001394 | Cirrhosis | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0000716 | Depression | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001399 | Hepatic failure | |
| HP:0001249 | Intellectual disability | |
| HP:0002896 | Neoplasm of the liver | |
| HP:0000639 | Nystagmus | |
| HP:0002756 | Pathologic fracture | |
| HP:0001328 | Specific learning disability | |
| HP:0002725 | Systemic lupus erythematosus | |
Annotation source: 20301544[PMID]_23412609[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/77293
- This record as JSON: /data/d/77293.json