ORPHA:576
Mucolipidosis type II
Synonyms: I-cell disease · Mucolipidosis type II alpha/beta · N-acetylglucosamine 1-phosphotransferase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucolipidosis type II | I-cell disease · Mucolipidosis type II alpha/beta · N-acetylglucosamine 1-phosphotransferase deficiency |
| fr | Mucolipidose type II | Déficit en N-acétylglucosamine-1-phosphotransférase · Maladie des cellules à inclusions · Mucolipidose type II alpha/bêta |
| de | Mukolipidose Typ II | I-Zell-Krankheit · Mukolipidose Typ II alpha/beta · N-Acetylglukosamin-1-Phosphotransferase-Mangel |
| es | Mucolipidosis tipo II | Deficiencia de N-acetilglucosamina-1-fosforiltransferasa · Enfermedad de células I · Mucolipidosis tipo II alfa/beta |
| it | Mucolipidosi, tipo II | Deficit di N-acetilglucosamina-1-fosfotransferasi · Malattia delle cellule I |
| nl | Mucolipidose type II | N-acetylglucosamine 1-fosfotransferasedeficiëntie · I-cel ziekte · Mucolipidose type II alfa/bèta |
| pt | Mucolipidose tipo II | Deficiência de N-acetil-glucosamina 1-fosfotransferase · Doença de I-cell · Doença de células de inclusão |
| pl | Mukolipidoza typu II | Niedobór N-acetyloglukozamino-1-fosfotransferazy · Choroba "I-cell" |
| cs | Mukolipidóza, typ II | Deficit N-acetylglukosamin-1-fosfotransferázy · I-cell disease · Nemoc I-buněk |
| uk | Муколіпідоз, тип II | І-клітинна хвороба · Муколіпідоз II типу альфа/бета · Дефіцит N-ацетилглюкозамін-1-фосфотрансферази |
| zh | 粘脂贮积症II型 | N-乙酰葡萄糖胺-1-磷酸转移酶缺乏症 |
| tr | Mukolipidoz tip II | I-hücre hastalığı · Mukolipidoz tip II alfa / beta · N-asetilglukozamin 1-fosfotransferaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252500 | E | validated | |
| ICD-10 | E77.0 | NTBT | inclusion | validated |
| ICD-11 | 5C56.20 | NTBT | index | validated |
| MONDO | 0009650 | E | validated | |
| MeSH | C538602 | E | validated | |
| UMLS | C0020725 | E | validated | |
| GARD | 6749 | E | validated | |
| MedDRA | 10072928 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone diseases - ORPHA:79212Mucolipidosis
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNPTAB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29670 | ENSG00000111670 | 607840 | 12q23.2 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | 18425436[PMID] |
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Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 / 100 000 | Europe | Value and class | Validated | 10480370[PMID]_14685153[PMID]_ 25274184[PMID]_ORPHANET |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.81 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.16 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.05 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 16.2 / 100 000 | Specific population | Value and class | Validated | 18190596[PMID]_1937486[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
63 annotations · validated 2020-02-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031650 | Abnormal atrioventricular valve physiology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000280 | Coarse facial features | |
| HP:0002474 | Expressive language delay | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001609 | Hoarse voice | |
| HP:0001270 | Motor delay | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001538 | Protuberant abdomen | |
| HP:0006596 | Restricted chest movement | |
| HP:0004322 | Short stature | |
| HP:0001072 | Thickened skin | |
| HP:0001537 | Umbilical hernia | |
| Frequent (79-30%) | ||
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0045027 | Abnormality of the thoracic cavity | |
| HP:0100543 | Cognitive impairment | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001363 | Craniosynostosis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0012368 | Flat face | |
| HP:0002540 | Inability to walk | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000774 | Narrow chest | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000388 | Otitis media | |
| HP:0002465 | Poor speech | |
| HP:0010444 | Pulmonary insufficiency | |
| HP:0002091 | Restrictive ventilatory defect | |
| Occasional (29-5%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0011314 | Abnormality of long bone morphology | |
| HP:0001659 | Aortic regurgitation | |
| HP:0012389 | Appendicular hypotonia | |
| HP:0008936 | Axial hypotonia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0006203 | Decreased movement range in interphalangeal joints | |
| HP:0001540 | Diastasis recti | |
| HP:0011359 | Dry hair | |
| HP:0000286 | Epicanthus | |
| HP:0002213 | Fine hair | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0003273 | Hip contracture | |
| HP:0002827 | Hip dislocation | |
| HP:0000023 | Inguinal hernia | |
| HP:0006380 | Knee flexion contracture | |
| HP:0002808 | Kyphosis | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0006467 | Limited shoulder movement | |
| HP:0006248 | Limited wrist movement | |
| HP:0001562 | Oligohydramnios | |
| HP:0001655 | Patent foramen ovale | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000586 | Shallow orbits | |
| HP:0010307 | Stridor | |
| HP:0001762 | Talipes equinovarus | |
| HP:0007421 | Telangiectases of the cheeks | |
| HP:0001824 | Weight loss | |
| HP:0011364 | White hair | |
| Very rare (<4-1%) | ||
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301728[PMID]_31687257[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/576
- This record as JSON: /data/d/576.json