ORPHA:79328
ALG9-CDG
Synonyms: CDG syndrome type IL · CDG-IL · CDG1L · Carbohydrate deficient glycoprotein syndrome type IL · Congenital disorder of glycosylation type 1L · Mannosyltransferase 7-9 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene <i>ALG9</i> (11q23).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALG9-CDG | CDG syndrome type IL · CDG-IL · CDG1L · Carbohydrate deficient glycoprotein syndrome type IL · Congenital disorder of glycosylation type 1L · Mannosyltransferase 7-9 deficiency |
| fr | ALG9-CDG | Anomalie congénitale de la glycosylation type 1L · Anomalie congénitale de la glycosylation type IL · CDG-IL · CDG1L · Déficit en mannosyltransférase 7-9 · Syndrome CDG type IL · Syndrome des glycoprotéines déficientes en hydrates de carbone type IL |
| de | ALG9-CDG | CDG-Syndrom Typ Il · CDG1L · Kohlenhydrat-defizientes Glykoprotein-Syndrom IL · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IL · Mannosyltransferase 7-9-Mangel · CDG-Il |
| es | ALG9-CDG | CDG-IL · CDG1L · Deficiencia de manosiltransferasa 7-9 · Síndrome CDG tipo IL · Síndrome de glicoproteínas deficientes en carbohidratos tipo IL · Trastorno congénito de la glicosilación tipo 1L |
| it | ALG9-CDG | CDG-IL · CDG1L · Deficit di mannosiltransferasi 7-9 · Disturbo congenito della glicosilazione, tipo 1L · Disturbo congenito della glicosilazione, tipo IL · Sidrome CDG, tipo IL · Sindrome delle glicoproteine carenti in carboidrati, tipo IL |
| nl | ALG9-CDG | Congenitale glycosylatiestoornis type 1l · Congenitale glycosylatiestoornis type IL · Koolhydraatdeficiënt glycoproteïne-syndroom type IL · Mannosyltransferase-7-9-deficiëntie · CDG-IL · CDG-syndroom type IL · CDG1L · Congenitale defecten van de glycosylering type 1L · Congenitale defecten van de glycosylering type IL |
| pt | ALG9-CDG | CDG-IL · CDG1L · Deficiência de manosiltransferase 7-9 · Doença congénita da glicosilação tipo 1L · Síndrome CDG tipo IL · Síndrome de glicoproteína deficiente em carbohidratos tipo IL |
| pl | ALG9-CDG | CDG1L · CDG-IL · Zespół CDG typu IL · Niedobór mannozylotransferazy 7-9 · Wrodzone zaburzenie glikozylacji typu 1L · Zespół obniżonej glikozylacji glikoprotein typu 1L |
| cs | ALG9-CDG | CDG syndrom, typ IL · CDG-IL · CDG1L · Carbohydrate deficient glycoprotein syndrom type IL · Vrozená porucha glykosylace, typ 1L · Vrozená porucha glykosylace, typ IL · Deficit mannosyltransferázy 7-9 · Syndrom s deficitem karbohydrátového glykoproteinu typ IL |
| uk | ALG9-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IL · Синдром CDG, тип IL · CDG1L · CDG-IL · Вроджене порушення глікозилювання типу 1L · Дефіцит маннозилтрансферази 7-9 |
| zh | 先天性糖基化障碍ALG9突变型 | 碳水化合物缺乏糖蛋白综合征IL型 |
| tr | ALG9-CDG | CDG1L · CDG-IL · CDG sendromu tipi IL · Mannosiltransferaz 7-9 eksikliği · Tip 1L glikosilasyonun doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip IL |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 263210 | BTNT | validated | |
| OMIM | 608776 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0012117 | E | validated | |
| MeSH | C535750 | E | validated | |
| UMLS | C2931006 | E | validated | |
| GARD | 9839 | 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 (4):
- 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:466732OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome referred to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALG9 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15672 | ENSG00000086848 | 606941 | 11q23.1 | ALG9 alpha-1,2-mannosyltransferase | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 26453364[PMID]_28122681[PMID]_28932688[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28122681[PMID]_28932688[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
86 annotations · validated 2021-09-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0002240 | Hepatomegaly | |
| HP:0001252 | Hypotonia | |
| HP:0003186 | Inverted nipples | |
| HP:0001698 | Pericardial effusion | |
| HP:0000253 | Progressive microcephaly | |
| HP:0002652 | Skeletal dysplasia | |
| Occasional (29-5%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0011103 | Abnormal left ventricular outflow tract morphology | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0008776 | Abnormal renal artery morphology | |
| HP:0007385 | Aplasia cutis congenita of scalp | |
| HP:0002099 | Asthma | |
| HP:0001631 | Atrial septal defect | |
| HP:0000813 | Bicornuate uterus | |
| HP:0000193 | Bifid uvula | |
| HP:0000248 | Brachycephaly | |
| HP:0100865 | Broad ischia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0000444 | Convex nasal ridge | |
| HP:0001558 | Decreased fetal movement | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0012448 | Delayed myelination | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002014 | Diarrhea | |
| HP:0000105 | Enlarged kidney | |
| HP:0000565 | Esotropia | |
| HP:0003015 | Flared metaphysis | |
| HP:0002007 | Frontal bossing | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001407 | Hepatic cysts | |
| HP:0001234 | Hitchhiker thumb | |
| HP:0000126 | Hydronephrosis | |
| HP:0001789 | Hydrops fetalis | |
| HP:0001347 | Hyperreflexia | |
| HP:0000316 | Hypertelorism | |
| HP:0000998 | Hypertrichosis | |
| HP:0005343 | Hypoplasia of the bladder | |
| HP:0009004 | Hypoplasia of the musculature | |
| HP:0008724 | Hypoplasia of the ovary | |
| HP:0002557 | Hypoplastic nipples | |
| HP:0030215 | Inappropriate crying | |
| HP:0000737 | Irritability | |
| HP:0002265 | Large fleshy ears | |
| HP:0009125 | Lipodystrophy | |
| HP:0000343 | Long philtrum | |
| HP:0010763 | Low insertion of columella | |
| HP:0002162 | Low posterior hairline | |
| HP:0000369 | Low-set ears | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000347 | Micrognathia | |
| HP:0000308 | Microretrognathia | |
| HP:0003375 | Narrow greater sciatic notch | |
| HP:0001562 | Oligohydramnios | |
| HP:0001539 | Omphalocele | |
| HP:0001405 | Periportal fibrosis | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000520 | Proptosis | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0008905 | Rhizomelia | |
| HP:0005133 | Right ventricular dilatation | |
| HP:0000586 | Shallow orbits | |
| HP:0003026 | Short long bone | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0000319 | Smooth philtrum | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000506 | Telecanthus | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000473 | Torticollis | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0009487 | Ulnar deviation of the hand | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0032464 | Ureteral hypoplasia | |
| HP:0001629 | Ventricular septal defect | |
| HP:0011473 | Villous atrophy | |
| HP:0002013 | Vomiting | |
| HP:0000260 | Wide anterior fontanel | |
| HP:0000154 | Wide mouth | |
| HP:0012704 | Widened subarachnoid space | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28484880[PMID]_28932688[PMID]_20301507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79328
- This record as JSON: /data/d/79328.json