ORPHA:79324
ALG12-CDG
Synonyms: Congenital disorder of glycosylation type Ig · Mannosyltransferase 8 deficiency · CDG syndrome type Ig · CDG-Ig · CDG1G · Carbohydrate deficient glycoprotein syndrome type Ig · Congenital disorder of glycosylation type 1g
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene <i>ALG12</i> (22q13.33).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALG12-CDG | Congenital disorder of glycosylation type Ig · Mannosyltransferase 8 deficiency · CDG syndrome type Ig · CDG-Ig · CDG1G · Carbohydrate deficient glycoprotein syndrome type Ig · Congenital disorder of glycosylation type 1g |
| fr | ALG12-CDG | Anomalie congénitale de la glycosylation type 1g · Anomalie congénitale de la glycosylation type Ig · CDG-Ig · CDG1G · Déficit en mannosyltransférase 8 · Syndrome CDG type Ig · Syndrome des glycoprotéines déficientes en hydrates de carbone Ig |
| de | ALG12-CDG | CDG-Ig · CDG-Syndrom Typ Ig · CDG1G · Kohlenhydrat-defizientes Glykoprotein-Syndrom Ig · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ig · Mannosyltransferase 8-Mangel |
| es | ALG12-CDG | CDG-Ig · CDG1G · Deficiencia de manosiltransferasa 8 · Síndrome CDG tipo Ig · Síndrome de glicoproteínas deficientes en carbohidratos tipo Ig · Trastorno congénito de la glicosilación tipo 1g · Trastorno congénito de la glicosilación tipo Ig |
| it | ALG12-CDG | CDG-Ig · CDG1G · Deficit di mannosiltransferasi 8 · Disturbo congenito della glicosilazione, tipo 1g · Disturbo congenito della glicosilazione, tipo Ig · Sindrome CDG, tipo Ig · Sindrome delle glicoproteine carenti in carboidrati, tipo Ig |
| nl | ALG12-CDG | CDG-Ig · CDG-syndroom type Ig · CDG1G · Congenitale defecten van de glycosylering type 1g · Congenitale defecten van de glycosylering type Ig · Congenitale glycosylatiestoornis type 1g · Congenitale glycosylatiestoornis type Ig · Koolhydraatdeficiënt glycoproteïne-syndroom Ig · Mannosyltransferase 8-deficiëntie |
| pt | ALG12-CDG | Doença congénita da glicosilação tipo Ig · Síndrome CDG tipo Ig · Síndrome de glicoproteína deficiente em carbohidratos tipo Ig · CDG-Ig · CDG1G · Deficiência de manosiltransferase 8 · Doença congénita da glicosilação tipo 1g |
| pl | ALG12-CDG | CDG1G · CDG-Ig · Niedobór mannozylotransferazy 8 · Wrodzone zaburzenie glikozylacji typu Ig · Wrodzone zaburzenie glikozylacji typu Ig · Zespół CDG typu Ig · Zespół obniżonej glikozylacji glikoprotein typu Ig |
| cs | ALG12-CDG | CDG syndrom, typ Ig · CDG-Ig · CDG1G · Carbohydrate deficient glycoprotein syndrom type Ig · Vrozená porucha glykosylace, typ 1g · Vrozená porucha glykosylace, typ Ig · Deficit mannosyltransferázy 8 · Syndrom s deficitem karbohydrátového glykoproteinu typ Ig |
| uk | ALG12-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Ig · Синдром CDG, тип Ig · CDG1G · CDG-Ig · Вроджене порушення глікозилювання типу 1g · Вроджене порушення глікозилювання типу Ig · Дефіцит маннозилтрансферази 8 |
| zh | 先天性糖基化障碍1g型 | 碳水化合物缺乏糖蛋白综合征Ig型 |
| tr | ALG12-CDG | CDG1G · CDG-Ig · CDG sendromu tip Ig · Mannosiltransferaz 8 eksikliği · Glikozilasyon tip 1g'nin Doğumsal bozukluğu · Glikozilasyon tip Ig'nin Doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Ig |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607143 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0011783 | E | validated | |
| MeSH | C535745 | E | validated | |
| UMLS | C2931001 | E | validated | |
| GARD | 9833 | 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 (3):
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALG12 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19358 | ENSG00000182858 | 607144 | 22q13.33 | ALG12 alpha-1,6-mannosyltransferase | 20301507[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 22516080[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22516080[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.
6
HPO phenotypes
93 annotations · validated 2021-09-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| Very frequent (99-80%) | ||
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0000119 | Abnormality of the genitourinary system | |
| Frequent (79-30%) | ||
| HP:0410242 | Abnormal IgG level | |
| HP:0000759 | Abnormal peripheral nervous system morphology | |
| HP:0002257 | Chronic rhinitis | |
| HP:0010976 | Decreased total B cell count | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002011 | Morphological central nervous system abnormality | |
| HP:0000253 | Progressive microcephaly | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0410018 | Recurrent ear infections | |
| HP:0100776 | Recurrent pharyngitis | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0040246 | Reduced antithrombin antigen | |
| HP:0001929 | Reduced factor XI activity | |
| HP:0005543 | Reduced protein C activity | |
| HP:0004855 | Reduced protein S activity | |
| Occasional (29-5%) | ||
| HP:0410240 | Abnormal IgA level | |
| HP:0410243 | Abnormal IgM level | |
| HP:0011849 | Abnormal bone ossification | |
| HP:0001999 | Abnormal facial shape | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0012385 | Camptodactyly | |
| HP:0002389 | Cavum septum pellucidum | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0410295 | Complete or near-complete absence of specific antibody response to tetanus vaccine | |
| HP:0000028 | Cryptorchidism | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0012448 | Delayed myelination | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000286 | Epicanthus | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0003146 | Hypocholesterolemia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000047 | Hypospadias | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000276 | Long face | |
| HP:0100807 | Long fingers | |
| HP:0002162 | Low posterior hairline | |
| HP:0000347 | Micrognathia | |
| HP:0000054 | Micropenis | |
| HP:0011800 | Midface retrusion | |
| HP:0010557 | Overlapping fingers | |
| HP:0001302 | Pachygyria | |
| HP:0410305 | Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine | |
| HP:0011327 | Posterior plagiocephaly | |
| HP:0001622 | Premature birth | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0001988 | Recurrent hypoglycemia | |
| HP:0001582 | Redundant skin | |
| HP:0000541 | Retinal detachment | |
| HP:0001852 | Sandal gap | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0011344 | Severe global developmental delay | |
| HP:0003026 | Short long bone | |
| HP:0000322 | Short philtrum | |
| HP:0001792 | Small nail | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001873 | Thrombocytopenia | |
| HP:0003049 | Ulnar deviation of the wrist | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000445 | Wide nose | |
| HP:0012766 | Widened cerebral subarachnoid space | |
| Very rare (<4-1%) | ||
| HP:0009124 | Abnormal adipose tissue morphology | |
| HP:0200128 | Biventricular hypertrophy | |
| HP:0000969 | Edema | |
| HP:0002902 | Hyponatremia | |
| HP:0002566 | Intestinal malrotation | |
| HP:0003186 | Inverted nipples | |
| HP:0011623 | Muscular ventricular septal defect | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0001561 | Polyhydramnios | |
| HP:0100806 | Sepsis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301507[PMID]_31481313[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79324
- This record as JSON: /data/d/79324.json