Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Synonyms: SMO deficiency · Sterol-C4-methyl oxidase deficiency
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | SMO deficiency · Sterol-C4-methyl oxidase deficiency |
| fr | Syndrome de microcéphalie-cataracte congénitale-dermatite psoriasiforme | Déficit en C4-méthyl stérol oxydase · Déficit en SMO |
| de | Mikrozephalie-kongenitale Katarakt-psoriasiforme Dermatose-Syndrom | SC4MOL-Mangel · SMO-Mangel |
| es | Síndrome de microcefalia-catarata congénita-dermatitis psoriasiforme | Deficiencia de SMO · Deficiencia de esterol-C4-metil oxidasa |
| it | Sindrome microcefalia - cataratta congenita - dermatite psoriasiforme | |
| nl | Microcefalie - congenitaal cataract - psoriasiforme dermatitis-syndroom | SMO-deficiëntie · Sterol-C4-methyloxidasedeficiëntie |
| pt | Microcefalia-catarata-síndrome de dermatite psoriasiforme congénita | |
| pl | Zespół małogłowia, wrodzonej zaćmy i łuszczycowego zapalenia skóry | Niedobór sterol-C4-metylo oksydazy |
| cs | Syndrom zahrnující mikrocefalii, vrozenou kataraktu a psoriaziformní dermatitidu | Deficit SMO · Deficit sterol-C4-metyl oxidázy |
| uk | Синдром мікроцефалії-вродженої катаракти-псоріазоподібного дерматиту | Дефіцит SMO · Дефіцит стерол-С4-метилоксидази |
| zh | 小头畸形-先天性白内障-银屑病性皮炎综合征 | 甾醇-C4-甲基氧化酶缺乏症 |
| tr | Mikrosefali-doğumsal katarakt-psoriasiform dermatit sendromu | SMO eksikliği · Sterol-C4-metil oksidaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616834 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.1Y | NTBT | attributed | validated |
| MONDO | 0014793 | E | validated | |
| UMLS | C5567510 | 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 (5):
- ORPHA:183426Genetic epidermal disorder
rare genetic diseases - ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:79195Sterol biosynthesis disorder
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MSMO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10545 | ENSG00000052802 | 607545 | 4q32.3 | methylsterol monooxygenase 1 | 21285510[PMID]_24144731[PMID]_23042573[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 28673550[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28673550[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/488168
- This record as JSON: /data/d/488168.json