ORPHA:397941
MAN1B1-CDG
Synonyms: Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency · Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency · Congenital disorder of glycosylation type II due to MAN1B1 deficiency · Intellectual disability-truncal obesity syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene <i>MAN1B1</i> (9q34.3).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MAN1B1-CDG | Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency · Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency · Congenital disorder of glycosylation type II due to MAN1B1 deficiency · Intellectual disability-truncal obesity syndrome |
| fr | MAN1B1-CDG | Anomalie congénitale de la glycosylation type 2 par déficit en MAN1B1 · Anomalie congénitale de la glycosylation type II par déficit en MAN1B1 · Syndrome de déficience intellectuelle-obésité troncale · Syndrome des glycoprotéines déficientes en hydrates de carbone type II par déficit en MAN1B1 |
| de | MAN1B1-CDG | CDG (Congenital Disorder of Glycosylation) Typ II · Intelligenzminderung-stammbetonte Adipositas-Syndrom · Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ II durch MAN1B1-Mangel · Kongenitaler Defekt der Glycoproteinbiosynthese Typ II durch MAN1B1-Mangel |
| es | MAN1B1-CDG | Síndrome de discapacidad intelectual-obesidad troncal · Síndrome de glicoproteínas deficientes en carbohidratos por deficiencia de MAN1B1 · Trastorno congénito de la glicosilación tipo 2 por deficiencia de MAN1B1 · Trastorno congénito de la glicosilación tipo II por deficiencia de MAN1B1 |
| it | MAN1B1-CDG | Sindrome deficit cognitivo-obesità del tronco |
| nl | MAN1B1-CDG | Congenitale defecten van de glycosylering type 2 door MAN1B1-deficiëntie · Congenitale defecten van de glycosylering type II door MAN1B1-deficiëntie · Congenitale glycosylatiestoornis type 2 door MAN1B1-deficiëntie · Congenitale glycosylatiestoornis type II door MAN1B1-deficiëntie · Intellectuele achterstand - rompobesitas-syndroom · Koolhydraatdeficiënt glycoproteïne syndroom type II door MAN1B1-deficiëntie |
| pt | MAN1B1-CDG | Doença congénita da glicosilação tipo 2 devido a deficiência MAN1B1 · Doença congénita da glicosilação tipo II devido a deficiência MAN1B1 · Síndrome de glicoproteína deficiente em carbohidratos tipo II devido a deficiência MAN1B1 · Síndrome de perturbação do desenvolvimento intelectual-obesidade truncal |
| pl | MAN1B1-CDG | Zespół niepełnosprawności intelektualnej i otyłości tułowiowej · Wrodzone zaburzenie glikozylacji typu 2 spowodowane niedoborem MAN1B1 · Wrodzone zaburzenie glikozylacji typu II spowodowane niedoborem MAN1B1 · Zespół obniżonej glikozylacji glikoprotein typu II spowodowany niedoborem MAN1B1 |
| cs | MAN1B1-CDG | Syndrom zahrnující mentální retardaci a trunkální obezitu |
| uk | MAN1B1-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром II типу внаслідок дефіциту MAN1B1 · Вроджене порушення глікозилювання типу 2 внаслідок дефіциту MAN1B1 · Вроджене порушення глікозилювання ІІ типу внаслідок дефіциту MAN1B1 · Синдром інтелектуальної недостатності - хронічного ожиріння |
| zh | MAN1B1缺乏所致先天性糖基化障碍2型 | MAN1B1缺乏所致缺糖基糖蛋白综合征II型 |
| tr | MAN1B1-CDG | Zihinsel yetersizlik-trunkal obezite sendromu · MAN1B1 eksikliğine bağlı doğumsal glikozilasyon tip 2 bozukluğu · MAN1B1 eksikliğine bağlı doğumsal glikozilasyon tip II bozukluğu · MAN1B1 eksikliğine bağlı karbonhidrat eksikliği olan glikoprotein sendromu tip II |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614202 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | attributed | validated |
| MONDO | 0018349 | E | validated | |
| UMLS | C4518783 | E | validated | |
| GARD | 12417 | 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: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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAN1B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6823 | ENSG00000177239 | 604346 | 9q34.3 | mannosidase alpha class 1B member 1 | 24348268[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 21763484[PMID]_24348268[PMID]_26307094[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21763484[PMID]_24348268[PMID]_26307094[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
53 annotations · validated 2019-09-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0012443 | Abnormality of brain morphology | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000369 | Low-set ears | |
| HP:0000400 | Macrotia | |
| HP:0002465 | Poor speech | |
| HP:0001956 | Truncal obesity | |
| HP:0012301 | Type II transferrin isoform profile | |
| Occasional (29-5%) | ||
| HP:0010814 | Abnormal position of hair whorl | |
| HP:0000708 | Atypical behavior | |
| HP:0000717 | Autism | |
| HP:0002136 | Broad-based gait | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000973 | Cutis laxa | |
| HP:0000268 | Dolichocephaly | |
| HP:0002007 | Frontal bossing | |
| HP:0000540 | Hypermetropia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0003186 | Inverted nipples | |
| HP:0001382 | Joint hypermobility | |
| HP:0004523 | Long eyebrows | |
| HP:0000272 | Malar flattening | |
| HP:0000768 | Pectus carinatum | |
| HP:0000307 | Pointed chin | |
| HP:0002591 | Polyphagia | |
| HP:0000448 | Prominent nose | |
| HP:0001250 | Seizure | |
| HP:0000331 | Short chin | |
| HP:0000470 | Short neck | |
| HP:0000322 | Short philtrum | |
| HP:0000319 | Smooth philtrum | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0010801 | Underdeveloped nasolabial fold | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
| Very rare (<4-1%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0012472 | Eclabion | |
| HP:0000286 | Epicanthus | |
| HP:0005469 | Flat occiput | |
| HP:0000527 | Long eyelashes | |
| HP:0000276 | Long face | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0007165 | Periventricular heterotopia | |
| HP:0002322 | Resting tremor | |
| HP:0012471 | Thick vermilion border | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 24348268[PMID]_2990835[PMID]_21763484[PMID]_20301507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397941
- This record as JSON: /data/d/397941.json