ORPHA:309246
GM2 gangliosidosis, AB variant
Synonyms: Hexosaminidase activator deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GM2 gangliosidosis, AB variant | Hexosaminidase activator deficiency |
| fr | Gangliosidose à GM2 variant AB | Déficit en activateur de l'hexosaminidase |
| de | GM2-Gangliosidose, AB-Variante | Hexosaminidase-Aktivator-Mangel |
| es | Gangliosidosis GM2, variante AB | Deficiencia del activador de hexosaminidasa |
| it | GM2-gangliosidosi, variante AB | Deficit dell'attivatore di esosaminidasi |
| nl | GM2-gangliosidose, AB-variant | Hexosaminidaseactivatordeficiëntie |
| pt | Gangliosidose-GM2, variante AB | |
| pl | Gangliozydoza GM2, wariant AB | Niedobór aktywatora heksozoaminidazy |
| cs | GM2 gangliosidóza, varianta AB | Deficit aktivátoru hexosaminidázy |
| uk | Гангліозидоз GM2, варіант AB | Дефіцит активатора гексозамінідази |
| zh | AB型GM2神经节苷脂贮积症 | 己糖胺酶激活剂缺乏 |
| tr | GM2 gangliosidoz, AB varyantı | Hekzosaminidaz aktivatör eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272750 | E | validated | |
| ICD-10 | E75.0 | NTBT | attributed | validated |
| ICD-11 | 5C56.00 | NTBT | index | validated |
| MONDO | 0010099 | E | validated | |
| UMLS | C0268275 | 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 (1):
- ORPHA:309152GM2 gangliosidosis
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GM2A | Disease-causing germline mutation(s) in | Assessed | HGNC:4367 | ENSG00000196743 | 613109 | 5q33.1 | ganglioside GM2 activator | 8900233[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 26082327[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26082327[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
25 annotations · validated 2017-07-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100852 | Abnormal fear/anxiety-related behavior | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0008936 | Axial hypotonia | |
| HP:0002059 | Cerebral atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0002376 | Developmental regression | |
| HP:0001332 | Dystonia | |
| HP:0002267 | Exaggerated startle response | |
| HP:0010780 | Hyperacusis | |
| HP:0001347 | Hyperreflexia | |
| HP:0002180 | Neurodegeneration | |
| HP:0002478 | Progressive spastic quadriplegia | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0012547 | Abnormal involuntary eye movements | |
| HP:0000739 | Anxiety | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0002072 | Chorea | |
| HP:0030904 | Glabellar reflex | |
| HP:0000719 | Inappropriate behavior | |
| HP:0002371 | Loss of speech | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002476 | Primitive reflex | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0002200 | Pseudobulbar signs | |
| HP:0030081 | Punctate periventricular T2 hyperintense foci | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 26203402[PMID]_9932959[PMID]_6801612[PMID]_174379[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309246
- This record as JSON: /data/d/309246.json