COG5-congenital disorder of glycosylation(CDG2I; CDGIIi)

MedGen UID:: 462226
•Concept ID:: C3150876
•: Disease or Syndrome

Synonyms:	CDG IIi; COG5-CDG; Congenital disorder of glycosylation type 2i; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi
SNOMED CT:	COG5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation (721100009); Component of oligomeric golgi complex 5 congenital disorder of glycosylation (721100009); COG5 congenital disorder of glycosylation (721100009); Carbohydrate deficient glycoprotein syndrome type IIi (721100009); Congenital disorder of glycosylation type IIi (721100009); CDG2I - carbohydrate deficient glycoprotein syndrome type IIi (721100009)
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.	COG5 (7q22.3)

Monarch Initiative:	MONDO:0013325
OMIM®:	613612
Orphanet:	ORPHA263487

Definition

COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.

Individuals with COG5-CDG typically develop signs and symptoms of the condition during infancy. These individuals often have weak muscle tone (hypotonia) and delayed development. Other neurological features include moderate to severe intellectual disability, poor coordination, and difficulty walking. Some affected individuals never learn to speak. Other features of COG5-CDG include short stature, an unusually small head size (microcephaly), and distinctive facial features, which can include ears that are set low and rotated backward, a short neck with a low hairline in the back, and a prominent nose. Less commonly, affected individuals can have hearing loss caused by changes in the inner ear (sensorineural hearing loss), vision impairment, damage to the nerves that control bladder function (a condition called neurogenic bladder), liver disease, and joint deformities (contractures). [from MedlinePlus Genetics]

Clinical features

From HPO

Neurogenic bladder

MedGen UID:: 595
•Concept ID:: C0005697
•: Disease or Syndrome

A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

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Cerebral atrophy

MedGen UID:: 116012
•Concept ID:: C0235946
•: Disease or Syndrome

Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.

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Truncal ataxia

MedGen UID:: 96535
•Concept ID:: C0427190
•: Sign or Symptom

Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.

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Delayed speech and language development

MedGen UID:: 105318
•Concept ID:: C0454644
•: Finding

A degree of language development that is significantly below the norm for a child of a specified age.

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Cerebellar atrophy

MedGen UID:: 196624
•Concept ID:: C0740279
•: Disease or Syndrome

Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.

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Motor delay

MedGen UID:: 381392
•Concept ID:: C1854301
•: Finding

A type of Developmental delay characterized by a delay in acquiring motor skills.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Atrophy/Degeneration affecting the brainstem

MedGen UID:: 870454
•Concept ID:: C4024900
•: Disease or Syndrome

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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.

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Microcephaly