ORPHA:280071
ALG11-CDG
Synonyms: CDG syndrome type Ip · CDG-Ip · CDG1P · Carbohydrate deficient glycoprotein syndrome type Ip · Congenital disorder of glycosylation type 1p · Congenital disorder of glycosylation type Ip
- 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 (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene <i>ALG11</i> (13q14.3).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALG11-CDG | CDG syndrome type Ip · CDG-Ip · CDG1P · Carbohydrate deficient glycoprotein syndrome type Ip · Congenital disorder of glycosylation type 1p · Congenital disorder of glycosylation type Ip |
| fr | ALG11-CDG | Anomalie congénitale de la glycosylation type 1p · Anomalie congénitale de la glycosylation type Ip · CDG-Ip · CDG1P · Syndrome CDG type Ip · Syndrome des glycoprotéines déficientes en hydrates de carbone Ip |
| de | ALG11-CDG | CDG (Congenital Disorder of Glycosylation) Typ Ip · CDG-Ip · CDG-Syndrom Typ 1p · CDG-Syndrom Typ IP · CDG1P · Glykosylierungs-Krankheit, kongenitale, Typ Ip · Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ 1p · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ip |
| es | ALG11-CDG | CDG-Ip · CDG1P · Síndrome CDG tipo 1p · Síndrome de glicoproteínas deficientes en carbohidratos tipo Ip · Trastorno congénito de la glicosilación tipo 1p · Trastorno congénito de la glicosilación tipo Ip |
| it | ALG11-CDG | CDG-Ip · CDG1P · Disturbo congenito della glicosilazione, tipo 1p · Disturbo congenito della glicosilazione, tipo Ip · Sindrome CDG, tipo Ip · Sindrome delle glicoproteine carenti in carboidrati, tipo Ip |
| nl | ALG11-CDG | CDG1P · Congenitale defecten van de glycosylering type 1p · Congenitale defecten van de glycosylering type Ip · Congenitale glycosylatiestoornis type 1p · Congenitale glycosylatiestoornis type Ip · Koolhydraatdeficiënt glycoproteïne syndroom type Ip · CDG-Ip · CDG-syndroom type Ip |
| pt | Síndrome de CDG tipo Ip | CDG1P · Doença congénita de glicosilação tipo 1p · Doença congénita de glicosilação tipo Ip · Síndrome de CDG tipo 1P · Síndrome de glicoproteina deficiente em carbohidratos tipo Ip |
| pl | ALG11-CDG | CDG1P · CDG-Ip · Wrodzone zaburzenie glikozylacji typu 1p · Wrodzone zaburzenie glikozylacji typu Ip · Zespół CDG typu 1p · Zespół obniżonej glikozylacji glikoprotein typu Ip |
| cs | Vrozená porucha glykosylace, typ 1p | CDG syndrom, typ Ip · CDG-Ip · CDG1P · ALG11-CDG · Vrozená porucha glykosylace, typ Ip · Syndrom poruchy vazby sacharidů na glykoproteinech, typ Ip |
| uk | ALG11-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Ip · Синдром CDG, тип Ip · CDG1P · CDG-Ip · Вроджене порушення глікозилювання типу 1p · Вроджене порушення глікозилювання типу Ip |
| zh | ALG11-先天性糖基化障碍 | 糖基化缺陷糖蛋白综合征Ip型 |
| tr | ALG11-CDG | CDG1P · CDG-Ip · CDG sendromu tip Ip · Doğumsal glikozilasyon bozukluğu tip 1p · Doğumsal glikozilasyon bozukluğu Ip · Karbonhidrat eksikliği olan glikoprotein sendromu tip Ip |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613661 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0013349 | E | validated | |
| UMLS | C3150913 | E | validated | |
| GARD | 12396 | 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 (3):
- ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALG11 | Disease-causing germline mutation(s) in | Assessed | HGNC:32456 | ENSG00000253710 | 613666 | 13q14.3 | ALG11 alpha-1,2-mannosyltransferase | 20080937[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 28122681[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28122681[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
40 annotations · validated 2019-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0001250 | Seizure | |
| HP:0003642 | Type I transferrin isoform profile | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000504 | Abnormality of vision | |
| HP:0011968 | Feeding difficulties | |
| HP:0000365 | Hearing impairment | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0000252 | Microcephaly | |
| Occasional (29-5%) | ||
| HP:0009124 | Abnormal adipose tissue morphology | |
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0001251 | Ataxia | |
| HP:0008936 | Axial hypotonia | |
| HP:0002059 | Cerebral atrophy | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0008000 | Decreased corneal reflex | |
| HP:0012448 | Delayed myelination | |
| HP:0000958 | Dry skin | |
| HP:0010851 | EEG with burst suppression | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002572 | Episodic vomiting | |
| HP:0001508 | Failure to thrive | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0000348 | High forehead | |
| HP:0002375 | Hypokinesia | |
| HP:0003186 | Inverted nipples | |
| HP:0002509 | Limb hypertonia | |
| HP:0000343 | Long philtrum | |
| HP:0002179 | Opisthotonus | |
| HP:0000278 | Retrognathia | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
| HP:0005968 | Temperature instability | |
| HP:0012704 | Widened subarachnoid space | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 28122681[PMID]_3067669[PMID]_22213132[PMID]_20080937[PMID]_20301507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280071
- This record as JSON: /data/d/280071.json