ORPHA:354
GM1 gangliosidosis
Synonyms: Beta-galactosidase-1 deficiency · GLB1 deficiency · Landing disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GM1 gangliosidosis | Beta-galactosidase-1 deficiency · GLB1 deficiency · Landing disease |
| fr | Gangliosidose à GM1 | Déficit en GLB1 · Déficit en bêta-galactosidase-1 · Maladie de Landing |
| de | GM1-Gangliosidose | Beta-Galaktosidase 1-Mangel · GLB1-Mangel · Landing-Krankheit |
| es | Gangliosidosis GM1 | Deficiencia de GLB1 · Deficiencia de beta-galactosidasa-1 · Enfermedad de Landing |
| it | Gangliosidosi GM1 | Deficit di GLB1 · Deficit di beta-galattosidasi-1 · Malattia di Landing |
| nl | GM1-gangliosidose | Bèta-galactosidase-1-deficiëntie · GLB1-deficiëntie · Ziekte van Landing |
| pt | Gangliosidose GM1 | Deficiência de beta-galactosidase · Doença de Landing |
| pl | Gangliozydoza GM1 | Choroba Landinga · Niedobór beta-galaktozydazy-1 · Niedobór GLB1 |
| cs | GM1 gangliosidóza | Deficit beta-galaktosidázy 1 · Deficit GLB1 · Landingova nemoc |
| uk | GM1 гангліозидоз | Дефіцит бета-галактозидази-1 · Дефіцит GLB1 · Хвороба Лендінга |
| zh | GM1神经节苷脂贮积症 | β-半乳糖苷酶-1缺乏症 |
| tr | GM1 gangliosidoz | GLB1 eksikliği · Landing hastalığı · Beta-galaktosidaz-1 eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230500 | BTNT | validated | |
| OMIM | 230600 | BTNT | validated | |
| OMIM | 230650 | BTNT | validated | |
| ICD-10 | E75.1 | NTBT | inclusion | validated |
| ICD-11 | 5C56.00 | NTBT | index | validated |
| MONDO | 0018149 | E | validated | |
| MeSH | D016537 | E | validated | |
| UMLS | C0085131 | E | validated | |
| GARD | 10891 | 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 (4):
- ORPHA:309144Gangliosidosis
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare transplant-related disorders - ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone 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
4
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 |
|---|---|---|---|---|---|---|---|---|---|
| GLB1 | ORPHA:79255GM1 gangliosidosis type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4298 | ENSG00000170266 | 611458 | 3p22.3 | galactosidase beta 1 | 24156116[PMID] |
| GLB1 | ORPHA:79256GM1 gangliosidosis type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4298 | ENSG00000170266 | 611458 | 3p22.3 | galactosidase beta 1 | 24156116[PMID] |
| GLB1 | ORPHA:79257GM1 gangliosidosis type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4298 | ENSG00000170266 | 611458 | 3p22.3 | galactosidase beta 1 | 24156116[PMID] |
5
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 27 / 100 000 | Malta | Value and class | Validated | 9323577[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 5.9 / 100 000 | Brazil | Value and class | Validated | 10517258[PMID]_[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 / 100 000 | Sweden | Value and class | Validated | 25274184[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.
6
HPO phenotypes
90 annotations · validated 2020-04-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0004345 | Abnormality of ganglioside metabolism | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0002829 | Arthralgia | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0000280 | Coarse facial features | |
| HP:0008166 | Decreased beta-galactosidase activity | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0001347 | Hyperreflexia | |
| HP:0002383 | Infectious encephalitis | |
| HP:0002011 | Morphological central nervous system abnormality | |
| HP:0000639 | Nystagmus | |
| HP:0100670 | Rough bone trabeculation | |
| HP:0001744 | Splenomegaly | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0100022 | Abnormality of movement | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000951 | Abnormality of the skin | |
| HP:0001251 | Ataxia | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0100543 | Cognitive impairment | |
| HP:0002376 | Developmental regression | |
| HP:0001508 | Failure to thrive | |
| HP:0001288 | Gait disturbance | |
| HP:0007325 | Generalized dystonia | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001263 | Global developmental delay | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0003307 | Hyperlordosis | |
| HP:0001252 | Hypotonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0001387 | Joint stiffness | |
| HP:0000158 | Macroglossia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001257 | Spasticity | |
| HP:0000486 | Strabismus | |
| HP:0001072 | Thickened skin | |
| HP:0001337 | Tremor | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0000045 | Abnormality of the scrotum | |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | |
| HP:0000618 | Blindness | |
| HP:0000455 | Broad nasal tip | |
| HP:0001638 | Cardiomyopathy | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0001635 | Congestive heart failure | |
| HP:0007957 | Corneal opacity | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000943 | Dysostosis multiplex | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0011968 | Feeding difficulties | |
| HP:0002007 | Frontal bossing | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001543 | Gastroschisis | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001007 | Hirsutism | |
| HP:0001789 | Hydrops fetalis | |
| HP:0002808 | Kyphosis | |
| HP:0009826 | Limb undergrowth | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000400 | Macrotia | |
| HP:0011369 | Mongolian blue spot | |
| HP:0000160 | Narrow mouth | |
| HP:0000648 | Optic atrophy | |
| HP:0012523 | Oral aversion | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000926 | Platyspondyly | |
| HP:0001622 | Premature birth | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0500049 | Retinopathy of prematurity | |
| HP:0002650 | Scoliosis | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0011951 | Aspiration pneumonia | |
| HP:0025013 | Decerebrate rigidity | |
| HP:0040197 | Encephalomalacia | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24156116[PMID]_30187681[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/354
- This record as JSON: /data/d/354.json