U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Gene

COG1 congenital disorder of glycosylation(CDG2G)

MedGen UID:
443957
Concept ID:
C2931011
Disease or Syndrome
Synonyms: CDG 2G; CDG IIg; CDG2G; CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME; COG1-CDG (CDG-IIg); Congenital disorder of glycosylation type 2G; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg
SNOMED CT: CDG2G - carbohydrate deficient glycoprotein syndrome type 2G (718750004); Carbohydrate deficient glycoprotein syndrome type 2g (718750004); Carbohydrate deficient glycoprotein syndrome type IIg (718750004); COG1 congenital disorder of glycosylation (718750004); COG1 (component of oligomeric golgi complex 1) congenital disorder of glycosylation (718750004); Congenital disorder of glycosylation type IIg (718750004); Component of oligomeric golgi complex 1 congenital disorder of glycosylation (718750004)
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).
 
Gene (location): COG1 (17q25.1)
 
Monarch Initiative: MONDO:0012637
OMIM®: 611209
Orphanet: ORPHA263508

Definition

An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. [from SNOMEDCT_US]

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Hemolytic-uremic syndrome
MedGen UID:
42403
Concept ID:
C0019061
Disease or Syndrome
A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Broad femoral neck
MedGen UID:
376496
Concept ID:
C1849016
Finding
An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Shallow acetabular fossae
MedGen UID:
344384
Concept ID:
C1854910
Finding
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
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).
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Failure to thrive in infancy
MedGen UID:
358083
Concept ID:
C1867873
Finding
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Cholesteatoma
MedGen UID:
3043
Concept ID:
C0008373
Disease or Syndrome
Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Stenosis of the external auditory canal
MedGen UID:
140758
Concept ID:
C0395837
Finding
An abnormal narrowing of the external auditory canal.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Intellectual disability, moderate
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
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.
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.
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.
Cerebellar vermis hypoplasia
MedGen UID:
333548
Concept ID:
C1840379
Finding
Underdevelopment of the vermis of cerebellum.
Lateral ventricle dilatation
MedGen UID:
383904
Concept ID:
C1856409
Pathologic Function
Mild global developmental delay
MedGen UID:
861405
Concept ID:
C4012968
Finding
A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
Brain atrophy
MedGen UID:
1643639
Concept ID:
C4551584
Disease or Syndrome
Partial or complete wasting (loss) of brain tissue that was once present.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Giant platelets
MedGen UID:
137700
Concept ID:
C0333864
Finding
Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
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.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Rib fusion
MedGen UID:
78570
Concept ID:
C0265695
Congenital Abnormality
Complete or partial merging of adjacent ribs.
Vertebral segmentation defect
MedGen UID:
96577
Concept ID:
C0432163
Congenital Abnormality
An abnormality related to a defect of vertebral separation during development.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Squared iliac bones
MedGen UID:
324963
Concept ID:
C1838186
Finding
A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.
Hypoplasia of the capital femoral epiphysis
MedGen UID:
374176
Concept ID:
C1839254
Finding
Underdevelopment of the proximal epiphysis of the femur.
Posterior rib gap
MedGen UID:
334230
Concept ID:
C1842696
Anatomical Abnormality
Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.
Progressive microcephaly
MedGen UID:
340542
Concept ID:
C1850456
Anatomical Abnormality
Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
Short long bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Thoracic scoliosis
MedGen UID:
387910
Concept ID:
C1857790
Anatomical Abnormality
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Butterfly vertebrae
MedGen UID:
1744309
Concept ID:
C5438458
Congenital Abnormality
A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Type II transferrin isoform profile
MedGen UID:
892666
Concept ID:
C4021094
Finding
Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Isolated Pierre-Robin syndrome
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulties during the neonatal period (summary by Tan et al., 2013).
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Glossoptosis
MedGen UID:
78623
Concept ID:
C0267048
Disease or Syndrome
Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Smooth philtrum
MedGen UID:
222980
Concept ID:
C1142533
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Small face
MedGen UID:
343376
Concept ID:
C1855538
Finding
A face that is short and narrow.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Wide intermamillary distance
MedGen UID:
473489
Concept ID:
C1827524
Finding
A larger than usual distance between the left and right nipple.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Esodeviation
MedGen UID:
1641033
Concept ID:
C4551734
Disease or Syndrome
A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Huang Y, Dai H, Yang G, Zhang L, Xue S, Zhu M
BMC Pediatr 2021 Oct 8;21(1):442. doi: 10.1186/s12887-021-02922-7. PMID: 34625039Free PMC Article
Salazar M, Miyake N, Silva S, Solar B, Papazoglu GM, Asteggiano CG, Matsumoto N
Clin Genet 2021 Sep;100(3):318-323. Epub 2021 May 13 doi: 10.1111/cge.13980. PMID: 33960418
Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J
J Pediatr 2021 Apr;231:148-156. Epub 2020 Dec 17 doi: 10.1016/j.jpeds.2020.12.026. PMID: 33340551
Foulquier F
Biochim Biophys Acta 2009 Sep;1792(9):896-902. Epub 2008 Nov 6 doi: 10.1016/j.bbadis.2008.10.020. PMID: 19028570
Zeevaert R, Foulquier F, Jaeken J, Matthijs G
Mol Genet Metab 2008 Jan;93(1):15-21. Epub 2007 Sep 29 doi: 10.1016/j.ymgme.2007.08.118. PMID: 17904886

Diagnosis

Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J
J Pediatr 2021 Apr;231:148-156. Epub 2020 Dec 17 doi: 10.1016/j.jpeds.2020.12.026. PMID: 33340551
Barone R, Fiumara A, Jaeken J
Semin Neurol 2014 Jul;34(3):357-66. Epub 2014 Sep 5 doi: 10.1055/s-0034-1387197. PMID: 25192513
Pérez-Cerdá C, Quelhas D, Vega AI, Ecay J, Vilarinho L, Ugarte M
Clin Chem 2008 Jan;54(1):93-100. Epub 2007 Nov 16 doi: 10.1373/clinchem.2007.093450. PMID: 18024528
Faid V, Chirat F, Seta N, Foulquier F, Morelle W
Proteomics 2007 Jun;7(11):1800-13. doi: 10.1002/pmic.200600977. PMID: 17520685
Oka T, Vasile E, Penman M, Novina CD, Dykxhoorn DM, Ungar D, Hughson FM, Krieger M
J Biol Chem 2005 Sep 23;280(38):32736-45. Epub 2005 Jul 28 doi: 10.1074/jbc.M505558200. PMID: 16051600

Prognosis

Pérez-Cerdá C, Quelhas D, Vega AI, Ecay J, Vilarinho L, Ugarte M
Clin Chem 2008 Jan;54(1):93-100. Epub 2007 Nov 16 doi: 10.1373/clinchem.2007.093450. PMID: 18024528
Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G
Proc Natl Acad Sci U S A 2006 Mar 7;103(10):3764-9. Epub 2006 Feb 28 doi: 10.1073/pnas.0507685103. PMID: 16537452Free PMC Article

Clinical prediction guides

Adusumalli R, Åsheim HC, Lupashin V, Blackburn JB, Prydz K
Traffic 2021 Jul;22(7):230-239. Epub 2021 Jun 8 doi: 10.1111/tra.12804. PMID: 34053170Free PMC Article
Haijes HA, Jaeken J, Foulquier F, van Hasselt PM
J Med Genet 2018 Feb;55(2):137-142. Epub 2017 Aug 28 doi: 10.1136/jmedgenet-2017-104586. PMID: 28848061
Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G
Proc Natl Acad Sci U S A 2006 Mar 7;103(10):3764-9. Epub 2006 Feb 28 doi: 10.1073/pnas.0507685103. PMID: 16537452Free PMC Article
Oka T, Vasile E, Penman M, Novina CD, Dykxhoorn DM, Ungar D, Hughson FM, Krieger M
J Biol Chem 2005 Sep 23;280(38):32736-45. Epub 2005 Jul 28 doi: 10.1074/jbc.M505558200. PMID: 16051600

Recent systematic reviews

Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...