ORPHA:834
Free sialic acid storage disease
Synonyms: FSASD · Free sialic acid storage disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare lysosomal storage disease characterized by a spectrum of clinical manifestations including neurological and developmental disorders with a severity ranging from the milder form, also called Salla disease (SD), to the most severe phenotype, also called infantile free sialic acid storage disease (ISSD).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Free sialic acid storage disease | FSASD · Free sialic acid storage disorder |
| fr | Maladie de surcharge en acide sialique libre | FSASD |
| de | Sialinsäure-Speicherkrankheit | FSASD · Freie Sialinsäure-Speicherkrankheit · Neuraminsäurespeicherkrankheit |
| es | Enfermedad por depósito de ácido siálico libre | FSASD · Trastorno de depósito de ácido siálico libre |
| it | Malattia da deposito di acido sialico libero | Disturbo da deposito di acido sialico libero · FSASD |
| nl | Vrij-siaalzuurstapelingsziekte | FSASD |
| pt | Doença de armazenamento de ácido siálico livre | FSASD · Patologia do armazenamento de ácido siálico livre |
| pl | Choroba spichrzania wolnego kwasu sialowego | = en |
| cs | Střádání volné sialové kyseliny | = en |
| uk | Хвороба накопичення вільної сіалової кислоти | Порушення накопичення вільної сіалової кислоти · FSASD |
| zh | 游离性唾液酸贮积病 | |
| tr | Serbest siyalik asit depolama hastalığı |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269920 | BTNT | validated | |
| OMIM | 604369 | BTNT | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C56.4 | NTBT | index | validated |
| MONDO | 0019366 | E | validated | |
| MeSH | C538523 | E | validated | |
| UMLS | C2931872 | E | validated | |
| GARD | 10870 | 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:79207Disorder of lysosomal amino acid transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225681Lysosomal disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
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Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SLC17A5 | ORPHA:309324Free sialic acid storage disease, infantile form | Disease-causing germline mutation(s) in | Assessed | HGNC:10933 | ENSG00000119899 | 604322 | 6q13 | solute carrier family 17 member 5 | 20301643[PMID] |
| SLC17A5 | ORPHA:309331Intermediate severe Salla disease | Disease-causing germline mutation(s) in | Assessed | HGNC:10933 | ENSG00000119899 | 604322 | 6q13 | solute carrier family 17 member 5 | 20301643[PMID] |
| SLC17A5 | ORPHA:309334Salla disease | Disease-causing germline mutation(s) in | Assessed | HGNC:10933 | ENSG00000119899 | 604322 | 6q13 | solute carrier family 17 member 5 | 20301643[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16584062[PMID] |
| Cases/families | 130 cases | Worldwide | Case(s) | Validated | 16584062[PMID] |
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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0001251 | Ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000639 | Nystagmus | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0001541 | Ascites | |
| HP:0002305 | Athetosis | |
| HP:0001260 | Dysarthria | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001789 | Hydrops fetalis | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0001250 | Seizure | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0002240 | Hepatomegaly | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000093 | Proteinuria | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/834
- This record as JSON: /data/d/834.json