Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Synonyms: SINO syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachyplagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of <i>KIDINS220</i> associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome | SINO syndrome |
| fr | Syndrome de paraplégie spastique-déficience intellectuelle-nystagmus-obésité | Syndrome SINO |
| de | Spastische Paraplegie-Intelligenzminderung-Nystagmus-Adipositas-Syndrom | SINO-Syndrom |
| es | Síndrome de paraplejía espástica-discapacidad intelectual-nistagmo-obesidad | Síndrome SINO |
| it | Sindrome paraplegia spastica-disabilità intellettiva-nistagmo-obesità | Sindrome SINO |
| nl | Spastische paraplegie - intellectuele achterstand - nystagmus - obesitas-syndroom | SINO-syndroom |
| pt | Síndrome de paraplegia espástica-perturbação do desenvolvimento intelectual-nistagmo-obesidade | |
| pl | Zespół paraplegii spastycznej- niepełnosprawności intelekturalnej-zeza-otyłości | Zespół SINO |
| cs | Syndrom zahrnující spastickou paraplegii, mentální retardaci, nystagmus a obezitu | Syndrom SINO |
| uk | Синдром спастичної параплегії-інтелектуальної недостатності-ністагму-ожиріння | Синдром SINO |
| zh | 痉挛性截瘫-智力障碍-眼球震颤-肥胖综合症 | = en |
| tr | Spastik parapleji-zihinsel yetersizlik-nistagmus-obezite sendromu | SINO sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617296 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0015007 | E | validated | |
| UMLS | C4284592 | 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 (3):
- ORPHA:100979Autosomal dominant complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIDINS220 | Disease-causing germline mutation(s) in | Assessed | HGNC:29508 | ENSG00000134313 | 615759 | 2p25.1 | kinase D interacting substrate 220 | 27005418[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 27005418[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27005418[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
14 annotations · validated 2018-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011400 | Abnormal CNS myelination | |
| HP:0000490 | Deeply set eye | |
| HP:0002194 | Delayed gross motor development | |
| HP:0025312 | Esophoria | |
| HP:0000540 | Hypermetropia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001249 | Intellectual disability | |
| HP:0000639 | Nystagmus | |
| HP:0001513 | Obesity | |
| HP:0001357 | Plagiocephaly | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0011220 | Prominent forehead | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001561 | Polyhydramnios | |
Annotation source: 27005418[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/521390
- This record as JSON: /data/d/521390.json