MAN1B1-congenital disorder of glycosylation

MedGen UID:: 1375785
•Concept ID:: C4518783
•: Disease or Syndrome

Synonym:	MAN1B1-CDG
SNOMED CT:	Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (733450008); MAN1B1-CDG - mannosidase alpha class 1B member 1 deficiency congenital disorder of glycosylation (733450008); Congenital disorder of glycosylation type II due to MAN1B1 deficiency (733450008); Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency (733450008)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0018349
Orphanet:	ORPHA397941

Definition

A form of congenital disorders of N-linked glycosylation with characteristics of 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 MAN1B1 (9q34.3). [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

MAN1B1-congenital disorder of glycosylation

Congenital disorder of glycosylation with neurological involvement
- MAN1B1-congenital disorder of glycosylation

Recent clinical studies

Etiology

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ
Brain 2014 Apr;137(Pt 4):1030-8. Epub 2014 Feb 24 doi: 10.1093/brain/awu019. PMID: 24566669

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