ORPHA:79255
GM1 gangliosidosis type 1
Synonyms: Infantile GM1 gangliosidosis · Norman-Landing disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GM1 gangliosidosis type 1 | Infantile GM1 gangliosidosis · Norman-Landing disease |
| fr | Gangliosidose à GM1 type 1 | Gangliosidose à GM1 infantile · Maladie de Norman-Landing |
| de | GM1-Gangliosidose Typ 1 | GM1-Gangliosidose, infantile · Norman-Landing-Krankheit |
| es | Gangliosidosis GM1 tipo 1 | Enfermedad de Norman-Landing · Gangliosidosis GM1 del lactante |
| it | Gangliosidosi GM1, tipo 1 | Gangliosidosi GM1 infantile · Malattia di Norman-Landing |
| nl | GM1-gangliosidose type 1 | Infantiele GM1-gangliosidose · Ziekte van Norman-Landing |
| pt | Gangliosidose GM1 tipo 1 | |
| pl | GM1 gangliozydoza typu 1 | Choroba Normana i Landinga · GM1 gangliozydoza dziecięca |
| cs | GM1 gangliosidóza, typ 1 | Infantilní GM1 gangliosidóza · Normanova-Landingova nemoc · Norman-Landingova nemoc |
| uk | GM1 гангліозидоз, тип 1 | Інфантильний GM1 гангліозидоз · Хвороба Нормана-Лендінга |
| zh | GM1神经节苷脂贮积病1型 | 婴儿型GM1神经节苷脂沉积病 |
| tr | GM1 gangliosidoz tip 1 | Norman-Landing hastalığı · İnfantil GM1 gangliosidoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230500 | E | validated | |
| ICD-10 | E75.1 | NTBT | attributed | validated |
| ICD-11 | 5C56.00 | NTBT | index | validated |
| MONDO | 0009260 | E | validated | |
| UMLS | C0268271 | E | validated | |
| GARD | 6479 | 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: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:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare genetic diseases
No children.
4
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] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | 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
54 annotations · validated 2021-02-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0008166 | Decreased beta-galactosidase activity | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000618 | Blindness | |
| HP:0002376 | Developmental regression | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0410346 | Increased urinary galactosylated oligosaccharide | |
| HP:0001249 | Intellectual disability | |
| HP:0003541 | Urinary glycosaminoglycan excretion | |
| Frequent (79-30%) | ||
| HP:0011951 | Aspiration pneumonia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0007204 | Diffuse white matter abnormalities | |
| HP:0000943 | Dysostosis multiplex | |
| HP:0002267 | Exaggerated startle response | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001257 | Spasticity | |
| HP:0012753 | T2 hypointense basal ganglia | |
| Occasional (29-5%) | ||
| HP:3000050 | Abnormality of odontoid tissue | |
| HP:0100767 | Abnormality of the placenta | |
| HP:0008807 | Acetabular dysplasia | |
| HP:0004562 | Beaking of vertebral bodies T12-L3 | |
| HP:0006371 | Broad long bone diaphyses | |
| HP:0001230 | Broad metacarpals | |
| HP:0000455 | Broad nasal tip | |
| HP:0025013 | Decerebrate rigidity | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0011968 | Feeding difficulties | |
| HP:0002869 | Flared iliac wings | |
| HP:0008812 | Flattened femoral head | |
| HP:0002007 | Frontal bossing | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001007 | Hirsutism | |
| HP:0001789 | Hydrops fetalis | |
| HP:0008479 | Hypoplastic vertebral bodies | |
| HP:0002690 | Large sella turcica | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000158 | Macroglossia | |
| HP:0000400 | Macrotia | |
| HP:0011369 | Mongolian blue spot | |
| HP:0000768 | Pectus carinatum | |
| HP:0000926 | Platyspondyly | |
| HP:0001250 | Seizure | |
| HP:0003026 | Short long bone | |
| HP:0012307 | Spatulate ribs | |
| HP:0002684 | Thickened calvaria | |
| HP:0001072 | Thickened skin | |
| Very rare (<4-1%) | ||
| HP:0001511 | Intrauterine growth retardation | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 31937438[PMID]_24156116[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79255
- This record as JSON: /data/d/79255.json