Mucolipidosis type IV
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucolipidosis type IV | |
| fr | Mucolipidose type IV | |
| de | Mukolipidose Typ IV | |
| es | Mucolipidosis tipo IV | |
| it | Mucolipidosi tipo IV | |
| nl | Mucolipidose type IV | |
| pt | Mucolipidose tipo IV | |
| pl | Mukolipidoza typu IV | |
| cs | Mukolipidóza, typ IV | |
| uk | Муколіпідоз, тип IV | |
| zh | 粘脂贮积症IV型 | |
| tr | Mukolipidoz tip IV |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252650 | E | validated | |
| ICD-10 | E75.1 | NTBT | inclusion | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0009653 | E | validated | |
| UMLS | C0238286 | E | validated | |
| GARD | 94 | E | validated | |
| MedDRA | 10072930 | 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 (7):
- ORPHA:225681Lysosomal disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:79212Mucolipidosis
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MCOLN1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13356 | ENSG00000090674 | 605248 | 19p13.2 | mucolipin TRP cation channel 1 | 21763169[PMID]_21224396[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Specific population | Value and class | Validated | 20159435[PMID]_16287144[PMID]_16645217[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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004345 | Abnormality of ganglioside metabolism | |
| HP:0011020 | Abnormality of mucopolysaccharide metabolism | |
| HP:0001344 | Absent speech | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0000708 | Atypical behavior | |
| HP:0007957 | Corneal opacity | |
| HP:0007281 | Developmental stagnation | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0000613 | Photophobia | |
| HP:0000488 | Retinopathy | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0002353 | EEG abnormality | |
| HP:0001252 | Hypotonia | |
| HP:0000639 | Nystagmus | |
| Occasional (29-5%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0005105 | Abnormal nasal morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0004422 | Biparietal narrowing | |
| HP:0000280 | Coarse facial features | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002816 | Genu recurvatum | |
| HP:0000252 | Microcephaly | |
| HP:0000691 | Microdontia | |
| HP:0000982 | Palmoplantar keratoderma | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/578
- This record as JSON: /data/d/578.json