B4GALT1-congenital disorder of glycosylation(CDGIId; CDG2D)

MedGen UID:: 419310
•Concept ID:: C2931009
•: Disease or Syndrome

Synonyms:	B4GALT1-CDG; B4GALT1-CDG (CDG-IId); CDG 2D; CDG IId; Congenital disorder of glycosylation type 2D; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId
SNOMED CT:	Carbohydrate deficient glycoprotein syndrome type 2d (725587007); B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation (725587007); Beta-1,4-galactosyltransferase deficiency (725587007); Carbohydrate deficient glycoprotein syndrome type IId (725587007); Congenital disorder of glycosylation type 2d (725587007); Congenital disorder of glycosylation type IId (725587007)
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)

Gene (location): Gene(s) directly associated with this condition or phenotype.	B4GALT1 (9p21.1)

Monarch Initiative:	MONDO:0011772
OMIM®:	607091
Orphanet:	ORPHA79332

Definition

Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders that are commonly associated with severe psychomotor and mental retardation. The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans (summary by Hansske et al., 2002). For a general discussion of CDGs, see CDG1A (212065). [from OMIM]

Clinical features

From HPO

Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

See: Feature record | Search on this feature

Abnormality of coagulation

MedGen UID:: 375979
•Concept ID:: C1846821
•: Finding

An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.

See: Feature record | Search on this feature

Dandy-Walker syndrome

MedGen UID:: 4150
•Concept ID:: C0010964
•: Disease or Syndrome

Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).

See: Feature record | Search on this feature

Hypotonia

MedGen UID:: 10133
•Concept ID:: C0026827
•: Finding

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

See: Feature record | Search on this feature

Myopathy

MedGen UID:: 10135
•Concept ID:: C0026848
•: Disease or Syndrome

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

See: Feature record | Search on this feature

Generalized hypotonia

MedGen UID:: 346841
•Concept ID:: C1858120
•: Finding

Generalized muscular hypotonia (abnormally low muscle tone).

See: Feature record | Search on this feature

Macrocephaly

MedGen UID:: 745757
•Concept ID:: C2243051
•: Finding

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.

See: Feature record | Search on this feature

Elevated circulating creatine kinase concentration

MedGen UID:: 69128
•Concept ID:: C0241005
•: Finding

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

See: Feature record | Search on this feature

Show all Hide all