Mucolipidosis type III gamma
Synonyms: ML 3 gamma · ML III gamma · Mucolipidosis type 3 gamma
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucolipidosis type III gamma | ML 3 gamma · ML III gamma · Mucolipidosis type 3 gamma |
| fr | Mucolipidose type III gamma | ML 3 gamma · ML III gamma · Mucolipidose type 3 gamma |
| de | Mukolipidose Typ III gamma | ML 3 gamma · ML III gamma · Mukolipidose Typ 3 gamma |
| es | Mucolipidosis tipo III gamma | ML 3 gamma · ML III gamma · Mucolipidosis tipo 3 gamma |
| it | Mucolipidosi, tipo III gamma | ML 3 gamma · ML III gamma · Mucolipidosi, tipo 3 gamma |
| nl | Mucolipidose type III gamma | ML 3 gamma · ML III gamma · Mucolipidose type 3 gamma |
| pt | Mucolipidose tipo III gama | ML 3 gama · ML III gama · Mucolipidose tipo 3 gama |
| pl | Mukolipidoza typu III gamma | ML 3 gamma · ML III gamma · Mukolipidoza typu 3 gamma |
| cs | Mukolipidóza, typ III gamma | ML 3 gama · ML III gama · Mukolipidóza, typ 3 gama |
| uk | Муколіпідоз, тип III гамма | ML 3 гамма · ML III гамма · Муколіпідоз типу 3 гамма |
| zh | 粘脂质贮积症III型γ | 粘脂质累积3型γ |
| tr | Mukolipidoz tip III gama | ML 3 gama · ML III gama · Mukolipidozis tip 3 gama |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252605 | E | validated | |
| ICD-10 | E77.0 | NTBT | attributed | validated |
| ICD-11 | 5C56.20 | NTBT | attributed | validated |
| MONDO | 0009652 | E | validated | |
| UMLS | C1854896 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:577Mucolipidosis type III
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNPTG | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23026 | ENSG00000090581 | 607838 | 16p13.3 | N-acetylglucosamine-1-phosphate transferase subunit gamma | 20034096[PMID]_19708128[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20301784[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/423470
- This record as JSON: /data/d/423470.json