Multiple sulfatase deficiency
Synonyms: Austin disease · MSD · Mucosulfatidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare lysosomal disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not). Clinical manifestations can include developmental delay, progressive neurologic deterioration, hydrocephalus, hypotonia, coarse facial features, retinopathy, skeletal anomalies, hepatomegaly and ichthyosis to a variable degree. Multiple sulfatase deficiency (MSD) comprises severe to attenuated forms historically classified as neonatal (most severe form), infantile (most common form) or juvenile (rarest form).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple sulfatase deficiency | Austin disease · MSD · Mucosulfatidosis |
| fr | Déficit multiple en sulfatases | DMS · MSD · Maladie d'Austin · Mucosulfatidose |
| de | Sulfatase-Mangel, multipler | Austin-Syndrom · MSD · Mukosulfatidose |
| es | Deficiencia múltiple de sulfatasas | DMS · Enfermedad de Austin · Mucosulfatidosis |
| it | Deficit multiplo di solfatasi | MSD · Malattia di Austin · Mucosolfatidosi |
| nl | Multipele sulfatasedeficiëntie | MSD · Meervoudige sulfatasedeficiëntie · Mucosulfatidose · Ziekte van Austin |
| pt | Deficiência múltipla de sulfatase | Doença Austin · MSD · Mucosulfatidose |
| pl | Mnogi niedobór sulfataz | MSD · Mukosulfatydoza · Sulfatydoza młodzieńcza typu Austin |
| cs | Mnohočetný sulfatázový deficit | = en |
| uk | Дефіцит множинної сульфатази | Хвороба Остіна · MSD · Мукосульфатидоз |
| zh | 多种硫酸脂酶缺乏症 | 青少年硫脂贮积病，Austin型 |
| tr | Çoklu sülfataz eksikliği | MSD · Mukosülfatidoz · jüvenil sülfatidoz, Austin tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272200 | E | validated | |
| ICD-10 | E75.2 | NTBT | inclusion | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0010088 | E | validated | |
| MeSH | D052517 | E | validated | |
| UMLS | C0268263 | E | validated | |
| GARD | 5061 | 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:281241Autosomal ichthyosis syndrome with fatal disease course
rare genetic diseases; rare skin diseases - ORPHA:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79225Sphingolipidosis
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:371442Sphingolipidosis with epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SUMF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20376 | ENSG00000144455 | 607939 | 3p26.1 | sulfatase modifying factor 1 | 17657823[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 154 cases | Worldwide | Case(s) | Validated | 36980153[PMID]_37732042[PMID]_ORPHANET | |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Worldwide | Value and class | Validated | 33144036[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0002376 | Developmental regression | |
| HP:0001263 | Global developmental delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0008064 | Ichthyosis | |
| HP:0001249 | Intellectual disability | |
| HP:0008155 | Mucopolysacchariduria | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0007307 | Rapid neurologic deterioration | |
| HP:0001744 | Splenomegaly | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000463 | Anteverted nares | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0000518 | Cataract | |
| HP:0000280 | Coarse facial features | |
| HP:0002208 | Coarse hair | |
| HP:0007957 | Corneal opacity | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000238 | Hydrocephalus | |
| HP:0001387 | Joint stiffness | |
| HP:0000256 | Macrocephaly | |
| HP:0000648 | Optic atrophy | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0000319 | Smooth philtrum | |
| HP:0000574 | Thick eyebrow | |
| Occasional (29-5%) | ||
| HP:0000252 | Microcephaly | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/585
- This record as JSON: /data/d/585.json