ORPHA:309324
Free sialic acid storage disease, infantile form
Synonyms: ISSD
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
This disease is described under Free sialic acid storage disease
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Free sialic acid storage disease, infantile form | ISSD |
| fr | Maladie de surcharge en acide sialique libre, forme infantile | = en |
| de | Infantile Sialinsäure-Speicherkrankheit | = en |
| es | Enfermedad por almacenamiento de ácido siálico libre, forma infantil | = en |
| it | Malattia da deposito di acido sialico libero, forma infantile | = en |
| nl | Vrij-siaalzuurstapelingsziekte, infantiele vorm | = en |
| pt | Doença de armazenamento do ácido siálico livre, forma da infância | = en |
| pl | Choroba spichrzania wolnego kwasu sialowego, postać niemowlęca | = en |
| cs | Porucha ukládání volné sialové kyseliny, infantilní forma | = en |
| uk | Хвороба накопичення вільної сіалової кислоти, інфантильна форма | = en |
| zh | 婴儿型游离唾液酸贮积病 | = en |
| tr | Serbest sialik asit depo hastalığı, infantil form | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269920 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C56.4 | NTBT | attributed | validated |
| MONDO | 0010027 | E | validated | |
| UMLS | C1096902 | E | validated | |
| GARD | 175 | E | validated | |
| MedDRA | 10067532 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:834Free sialic acid storage disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC17A5 | Disease-causing germline mutation(s) in | Assessed | HGNC:10933 | ENSG00000119899 | 604322 | 6q13 | solute carrier family 17 member 5 | 20301643[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.14 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309324
- This record as JSON: /data/d/309324.json