ORPHA:468699
SLC39A8-CDG
Synonyms: CDG syndrome type IIn · CDG-IIn · CDG2N · Carbohydrate deficient glycoprotein syndrome type IIn · Congenital disorder of glycosylation type 2n · Congenital disorder of glycosylation type IIn · SLC39A8 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare congenital disorder of glycosylation characterized by infantile onset of global developmental delay, severe intellectual disability, hypotonia, and variable additional features including short stature, cranial asymmetry, seizures, strabismus, recurrent infections, and osteopenia, among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialo- and increased asialo-, monosialo-, disialo, and trisialo-transferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SLC39A8-CDG | CDG syndrome type IIn · CDG-IIn · CDG2N · Carbohydrate deficient glycoprotein syndrome type IIn · Congenital disorder of glycosylation type 2n · Congenital disorder of glycosylation type IIn · SLC39A8 deficiency |
| fr | SLC39A8-CDG | Anomalie congénitale de la glycosylation type 2n · Anomalie congénitale de la glycosylation type IIn · CDG-IIn · CDG2N · Syndrome CDG type IIn · Syndrome des glycoprotéines déficientes en hydrates de carbone type IIn |
| de | SLC39A8-CDG | CDG (Congenital Disorder of Glycosylation) Typ IIn · CDG-IIn · CDG-Syndrom Typ 2n · CDG-Syndrom Typ IIn · CDG2n · Kohlenhydrat-defizientes Glykoprotein-Syndrom 2n · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIn · SLC39A8-Mangel |
| es | SLC39A8-CDG | CDG-IIn · CDG2N · Deficiencia de SLC39A8 · Síndrome CDG tipo IIn · Síndrome de glicoproteínas deficientes en carbohidratos tipo IIn · Trastorno congénito de la glicosilación tipo 2n · Trastorno congénito de la glicosilación tipo IIn |
| it | SLC39A8-CDG | |
| nl | SLC39A8-CDG | CDG-IIn · CDG-syndroom type 2n · CDG-syndroom type IIn · CDG2N · Congenitale defecten van de glycosylering type 2n · Congenitale defecten van de glycosylering type IIn · Congenitale glycosylatiestoornis type 2n · Congenitale glycosylatiestoornis type IIn · SLC39A8-deficiëntie |
| pt | SLC39A8-CDG | CDG-IIn · CDG2N · Deficiência SLC39A8 · Doença congénita da glicosilação tipo 2n · Doença congénita da glicosilação tipo IIn · Síndrome CDG tipo IIn · Síndrome de glicoproteína deficiente em carbohidratos tipo IIn |
| pl | SLC39A8-CDG | CDG2N · CDG-IIn · Niedobór SLC39A8 · Zespół CDG typu IIn · Wrodzone zaburzenie glikozylacji typu 2n · Wrodzone zaburzenie glikozylacji typu IIn · Zespół obniżonej glikozylacji glikoprotein typ IIn |
| cs | SLC39A8-CDG | CDG2N · CDG-IIn · SLC39A8 deficiency · CDG syndrome type IIn · Congenital disorder of glycosylation type 2n · Congenital disorder of glycosylation type IIn · Carbohydrate deficient glycoprotein syndrome type IIn · SLC39A8 deficit · CDG syndrom typ IIn · Vrozená porucha glykosylace typ 2n · Vrozená porucha glykosylace typ IIn · Glykoproteinový syndrom deficitu sacharidů typu IIn |
| uk | SLC39A8-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IIn · Синдром CDG, тип IIn · CDG2N · CDG-IIn · Вроджене порушення глікозилювання типу 2n · Вроджене порушення глікозилювання типу IIn · Дефіцит SLC39A8 |
| zh | SLC39A8相关糖基化障碍疾病 | 碳水化合物缺乏糖蛋白综合征lln型 |
| tr | SLC39A8-CDG | CDG2N · CDG-IIn · SLC39A8 eksikliği · CDG sendromu tip IIn · Tip 2n'nin doğumsal bozukluğu · Tip IIn glikozilasyonunun doğumsal bozukluğu · Karbonhidrat eksikliği glikoprotein sendromu tip IIn |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616721 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | attributed | validated |
| MONDO | 0014746 | E | validated | |
| UMLS | C4225234 | 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 (8):
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:309851Disorder of manganese transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:309347Disorder of protein N-glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC39A8 | Disease-causing germline mutation(s) in | Assessed | HGNC:20862 | ENSG00000138821 | 608732 | 4q24 | solute carrier family 39 member 8 | 26637978[PMID]_26637979[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 26637978[PMID]_26637979[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26637978[PMID]_26637979[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
41 annotations · validated 2019-09-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008277 | Abnormality of zinc homeostasis | |
| HP:0032098 | Hypomanganesemia | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0012736 | Profound global developmental delay | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0012301 | Type II transferrin isoform profile | |
| Frequent (79-30%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0002540 | Inability to walk | |
| HP:0002421 | Poor head control | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0025405 | Visual fixation instability | |
| Occasional (29-5%) | ||
| HP:0001392 | Abnormality of the liver | |
| HP:0000483 | Astigmatism | |
| HP:0001363 | Craniosynostosis | |
| HP:0010621 | Cutaneous syndactyly of toes | |
| HP:0008314 | Decreased activity of mitochondrial complex II | |
| HP:0008347 | Decreased activity of mitochondrial complex IV | |
| HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | |
| HP:0006558 | Decreased mitochondrial complex III activity in liver tissue | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0001332 | Dystonia | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0012368 | Flat face | |
| HP:0000365 | Hearing impairment | |
| HP:0000540 | Hypermetropia | |
| HP:0001347 | Hyperreflexia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002490 | Increased CSF lactate | |
| HP:0006380 | Knee flexion contracture | |
| HP:0009826 | Limb undergrowth | |
| HP:0000369 | Low-set ears | |
| HP:0000639 | Nystagmus | |
| HP:0000938 | Osteopenia | |
| HP:0002465 | Poor speech | |
| HP:0002719 | Recurrent infections | |
| HP:0002882 | Sudden episodic apnea | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 27995398[PMID]_26637979[PMID]_26637978[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/468699
- This record as JSON: /data/d/468699.json