ORPHA:79330
MOGS-CDG
Synonyms: CDG syndrome type IIb · CDG-IIb · CDG2B · Carbohydrate deficient glycoprotein syndrome type IIb · Congenital disorder of glycosylation type 2b · Congenital disorder of glycosylation type IIb · Glucosidase 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene <i> MOGS </i> (2p13.1).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MOGS-CDG | CDG syndrome type IIb · CDG-IIb · CDG2B · Carbohydrate deficient glycoprotein syndrome type IIb · Congenital disorder of glycosylation type 2b · Congenital disorder of glycosylation type IIb · Glucosidase 1 deficiency |
| fr | MOGS-CDG | Anomalie congénitale de la glycosylation type 2b · Anomalie congénitale de la glycosylation type IIb · CDG-IIb · CDG2B · Déficit en glucosidase 1 · Syndrome CDG type IIb · Syndrome des glycoprotéines déficientes en hydrates de carbone type IIb |
| de | GCS1-CDG | CDG-IIb · CDG-Syndrom Typ IIb · CDG2B · Glukosidase 1-Mangel · Kohlenhydrat-defizientes Glykoprotein-Syndrom IIb · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIb |
| es | GCS1-CDG | CDG-IIb · CDG2B · Deficiencia de glucosidasa 1 · Síndrome CDG tipo IIb · Síndrome de glicoproteínas deficientes en carbohidratos tipo IIb · Trastorno congénito de la glicosilación tipo 2b · Trastorno congénito de la glicosilación tipo IIb |
| it | GCS1-CDG | CDG-IIb · CDG2B · Deficit di glucosidasi 1 · Disturbo congenito della glicosilazione, tipo 2b · Disturbo congenito della glicosilazione, tipo IIb · Sindrome CDG, tipo IIb · Sindrome delle glicoproteine carenti in carboidrati, tipo IIb |
| nl | MOGS-CDG | CDG-IIb · CDG-syndroom type IIb · CDG2B · Congenitale defecten van de glycosylering type 2b · Congenitale defecten van de glycosylering type IIb · Congenitale glycosylatiestoornis type 2b · Congenitale glycosylatiestoornis type IIb · Glucosidase 1-deficiëntie · Koolhydraatdeficiënt glycoproteïne-syndroom type IIb |
| pt | MOGS-CDG | CDG-IIb · CDG2B · Deficiência de glucosidase 1 · Doença congénita da glicosilação tipo 2b · Doença congénita da glicosilação tipo IIb · Síndrome CDG tipo IIb · Síndrome de glipoproteína deficiente em carbohidratos tipo IIb |
| pl | GCS1-CDG | CDG2B · CDG-IIb · Niedobór glukozydazy 1 · Wrodzone zaburzenie glikozylacji typu 2b · Wrodzone zaburzenie glikozylacji typu IIb · Zespół CDG typu IIb · Zespół obniżonej glikozylacji glikoprotein typu IIb |
| cs | GCS1-CDG | CDG syndrom, typ IIb · CDG-IIb · CDG2B · Carbohydrate deficient glycoprotein syndrom type IIb · Vrozená porucha glykosylace, typ 2b · Vrozená porucha glykosylace, typ IIb · Deficit glukosidázy 1 · Syndrom s deficitem karbohydrátového glykoproteinu typ IIb |
| uk | MOGS-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IIb · Синдром CDG, тип IIb · CDG2B · CDG-IIb · Вроджене порушення глікозилювання типу 2b · Вроджене порушення глікозилювання типу IIb · Дефіцит глюкозидази 1 |
| zh | 先天性糖基化障碍2b型 | 碳水化合物缺乏糖蛋白综合征Ⅱb型 |
| tr | MOGS-CDG | CDG2B · CDG-IIb · CDG sendromu tip IIb · Glukozidaz 1 eksikliği · Glikozilasyon tip 2b'nın doğumsal bozukluğu · Glikozilasyon tip IIb'nın doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip IIb |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606056 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0011629 | E | validated | |
| MeSH | C565264 | E | validated | |
| UMLS | C1853736 | E | validated | |
| GARD | 10767 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:696870Common variable immunodeficiency phenotype due to germinal monogenic mutation
rare genetic diseases; rare immunological diseases - ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:371157Congenital disorder of glycosylation with hepatic involvement
rare genetic diseases; rare hepatic diseases - ORPHA:309347Disorder of protein N-glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MOGS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24862 | ENSG00000115275 | 601336 | 2p13.1 | mannosyl-oligosaccharide glucosidase | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24716661[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24716661[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
44 annotations · validated 2021-09-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0003241 | External genital hypoplasia | |
| HP:0008947 | Floppy infant | |
| HP:0001007 | Hirsutism | |
| HP:0000527 | Long eyelashes | |
| HP:0000278 | Retrognathia | |
| HP:0001250 | Seizure | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0004463 | Absent brainstem auditory responses | |
| HP:0001596 | Alopecia | |
| HP:0002104 | Apnea | |
| HP:0001631 | Atrial septal defect | |
| HP:0020110 | Bone fracture | |
| HP:0001640 | Cardiomegaly | |
| HP:0012450 | Chronic constipation | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0001332 | Dystonia | |
| HP:0000969 | Edema | |
| HP:0002286 | Fair hair | |
| HP:0007430 | Generalized edema | |
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000218 | High palate | |
| HP:0000034 | Hydrocele testis | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000821 | Hypothyroidism | |
| HP:0002791 | Hypoventilation | |
| HP:0031218 | Inappropriate antidiuretic hormone secretion | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0000648 | Optic atrophy | |
| HP:0010557 | Overlapping fingers | |
| HP:0001561 | Polyhydramnios | |
| HP:0000269 | Prominent occiput | |
| HP:0100598 | Pulmonary edema | |
| HP:0002098 | Respiratory distress | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002943 | Thoracic scoliosis | |
| HP:0001873 | Thrombocytopenia | |
Annotation source: 29235540[PMID]_20301507[PMID]_33058492[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79330
- This record as JSON: /data/d/79330.json