ORPHA:79256
GM1 gangliosidosis type 2
Synonyms: Juvenile GM1 gangliosidosis · Late-infantile GM1 gangliosidosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GM1 gangliosidosis type 2 | Juvenile GM1 gangliosidosis · Late-infantile GM1 gangliosidosis |
| fr | Gangliosidose à GM1 type 2 | Gangliosidose à GM1 infantile tardive · Gangliosidose à GM1 juvénile |
| de | GM1-Gangliosidose Typ 2 | GM1-Gangliosidose, juvenile · GM1-Gangliosidose, spät-infantile |
| es | Gangliosidosis GM1 tipo 2 | Gangliosidosis GM1 infantil tardía · Gangliosidosis GM1 juvenil |
| it | Gangliosidosi GM1, tipo 2 | Gangliosidosi GM1 giovanile · Gangliosidosi GM1 tardo-infantile |
| nl | GM1-gangliosidose type 2 | Juveniele GM1-gangliosidose |
| pt | Gangliosidose GM1 tipo 2 | |
| pl | GM1 gangliozydoza typu 2 | Młodzieńcza GM1 gangliozydoza · Późno dziecięca GM1 gangliozydoza |
| cs | GM1 gangliosidóza, typ 2 | Juvenilní GM1 gangliosidóza · Pozdně infantilní GM1 gangliosidóza |
| uk | GM1 гангліозидоз, тип 2 | Ювенільний GM1 гангліозидоз · Пізній інфантильний GM1 гангліозидоз |
| zh | GM1神经节苷脂贮积病2型 | 幼儿型GM1神经节苷脂病 |
| tr | GM1 gangliosidoz tip 2 | jüvenil GM1 gangliosidoz · Geç infantil GM1 gangliosidoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230600 | E | validated | |
| ICD-10 | E75.1 | NTBT | attributed | validated |
| ICD-11 | 5C56.00 | NTBT | index | validated |
| MONDO | 0009261 | E | validated | |
| UMLS | C0268272 | E | validated | |
| GARD | 10126 | 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 (3):
- ORPHA:354GM1 gangliosidosis
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare bone diseases; rare transplant-related disorders - ORPHA:519341Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare ophthalmic disorders - ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4298 | ENSG00000170266 | 611458 | 3p22.3 | galactosidase beta 1 | 24156116[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79256
- This record as JSON: /data/d/79256.json