U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital disorder of deglycosylation 2(CDDG2)

MedGen UID:
1809253
Concept ID:
C5676931
Disease or Syndrome
Synonym: CDDG2
 
Gene (location): MAN2C1 (15q24.2)
 
Monarch Initiative: MONDO:0030770
OMIM®: 619775

Definition

Congenital disorder of deglycosylation-2 (CDDG2) is an autosomal recessive disorder with variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis (Maia et al., 2022). For a discussion of genetic heterogeneity of congenital disorder of deglycosylation, see CDGG1 (615273). [from OMIM]

Clinical features

From HPO
Hamartoma of tongue
MedGen UID:
98465
Concept ID:
C0431565
Finding
A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.
Ulnar deviation of the hand
MedGen UID:
66031
Concept ID:
C0241521
Finding
Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
Genu recurvatum
MedGen UID:
107486
Concept ID:
C0546964
Anatomical Abnormality
An abnormally increased extension of the knee joint, so that the knee can bend backwards.
Bilateral talipes equinovarus
MedGen UID:
332956
Concept ID:
C1837835
Congenital Abnormality
Bilateral clubfoot deformity.
Sandal gap
MedGen UID:
374376
Concept ID:
C1840069
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Cleft earlobe
MedGen UID:
869023
Concept ID:
C4023440
Anatomical Abnormality
Discontinuity in the convexity of the inferior margin of the lobe.
Impaired social interactions
MedGen UID:
57707
Concept ID:
C0150080
Mental or Behavioral Dysfunction
Difficulty interacting with others through emotional, physical, or verbal communication.
Polymicrogyria
MedGen UID:
78605
Concept ID:
C0266464
Congenital Abnormality
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Gray matter heterotopia
MedGen UID:
452349
Concept ID:
C0266491
Finding
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
Hamartoma of hypothalamus
MedGen UID:
137970
Concept ID:
C0342418
Finding
Pallister-Hall-like syndrome (PHLS) is a pleiotropic autosomal recessive disorder characterized by phenotypic variability. Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. Hirschsprung disease has also been observed (Rubino et al., 2018; Le et al., 2020). Pallister-Hall syndrome (146510) is an autosomal dominant disorder with features overlapping those of PHLS, caused by mutation in the GLI3 gene (165240).
Partial agenesis of the corpus callosum
MedGen UID:
98127
Concept ID:
C0431368
Congenital Abnormality
A partial failure of the development of the corpus callosum.
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.
Cerebellar vermis hypoplasia
MedGen UID:
333548
Concept ID:
C1840379
Finding
Underdevelopment of the vermis of cerebellum.
Interhemispheric cyst
MedGen UID:
339924
Concept ID:
C1853188
Disease or Syndrome
Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
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.
Thin corpus callosum
MedGen UID:
1785336
Concept ID:
C5441562
Anatomical Abnormality
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
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.
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.
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
Increased length and width of the tongue.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
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).
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
An abnormal difference between the left and right sides of the face.
Short columella
MedGen UID:
341783
Concept ID:
C1857479
Finding
Reduced distance from the anterior border of the naris to the subnasale.
Highly arched eyebrow
MedGen UID:
358357
Concept ID:
C1868571
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.
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).
Retinal coloboma
MedGen UID:
761889
Concept ID:
C3540764
Disease or Syndrome
A notch or cleft of the retina.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Navon D
Dev Med Child Neurol 2022 Dec;64(12):1462-1469. Epub 2022 Aug 13 doi: 10.1111/dmcn.15376. PMID: 35962997

Recent clinical studies

Etiology

Levy RJ, Frater CH, Gallentine WB, Phillips JM, Ruzhnikov MR
J Inherit Metab Dis 2022 May;45(3):571-583. Epub 2022 Mar 11 doi: 10.1002/jimd.12494. PMID: 35243670
Ishii N, Sunaga C, Sano K, Huang C, Iino K, Matsuzaki Y, Suzuki T, Matsuo I
Chembiochem 2018 Apr 4;19(7):660-663. Epub 2018 Feb 16 doi: 10.1002/cbic.201700662. PMID: 29323460
Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB
Genet Med 2014 Oct;16(10):751-8. Epub 2014 Mar 20 doi: 10.1038/gim.2014.22. PMID: 24651605Free PMC Article

Diagnosis

Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout JMP, Oussoren E, Ruijter GJG
J Inherit Metab Dis 2023 Mar;46(2):206-219. Epub 2023 Feb 28 doi: 10.1002/jimd.12597. PMID: 36752951
Navon D
Dev Med Child Neurol 2022 Dec;64(12):1462-1469. Epub 2022 Aug 13 doi: 10.1111/dmcn.15376. PMID: 35962997
Hirayama H, Suzuki T
J Biochem 2022 Feb 21;171(2):169-176. doi: 10.1093/jb/mvab127. PMID: 34791337
Lipiński P, Cielecka-Kuszyk J, Socha P, Tylki-Szymańska A
Pol J Pathol 2020;71(1):66-68. doi: 10.5114/pjp.2020.92994. PMID: 32429657
Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM
Mol Genet Metab 2019 Aug;127(4):368-372. Epub 2019 Jul 9 doi: 10.1016/j.ymgme.2019.07.001. PMID: 31311714

Therapy

Asahina M, Fujinawa R, Hirayama H, Tozawa R, Kajii Y, Suzuki T
Mol Brain 2021 Jun 13;14(1):91. doi: 10.1186/s13041-021-00806-6. PMID: 34120625Free PMC Article

Prognosis

Stanclift CR, Dwight SS, Lee K, Eijkenboom QL, Wilsey M, Wilsey K, Kobayashi ES, Tong S, Bainbridge MN
Orphanet J Rare Dis 2022 Dec 17;17(1):440. doi: 10.1186/s13023-022-02592-3. PMID: 36528660Free PMC Article
Navon D
Dev Med Child Neurol 2022 Dec;64(12):1462-1469. Epub 2022 Aug 13 doi: 10.1111/dmcn.15376. PMID: 35962997
Levy RJ, Frater CH, Gallentine WB, Phillips JM, Ruzhnikov MR
J Inherit Metab Dis 2022 May;45(3):571-583. Epub 2022 Mar 11 doi: 10.1002/jimd.12494. PMID: 35243670
Rios-Flores IM, Bonal-Pérez MÁ, Castellanos-González A, Velez-Gómez E, Bertoli-Avella AM, Bobadilla-Morales L, Peña-Padilla C, Appendini-Andrade V, Corona-Rivera A, Romero-Valenzuela I, Corona-Rivera JR
Eur J Med Genet 2020 Aug;63(8):103952. Epub 2020 May 15 doi: 10.1016/j.ejmg.2020.103952. PMID: 32422350
Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L
Genet Med 2017 Feb;19(2):160-168. Epub 2016 Jul 7 doi: 10.1038/gim.2016.75. PMID: 27388694Free PMC Article

Clinical prediction guides

Rauscher B, Mueller WF, Clauder-Münster S, Jakob P, Islam MS, Sun H, Ghidelli-Disse S, Boesche M, Bantscheff M, Pflaumer H, Collier P, Haase B, Chen S, Hoffman R, Wang G, Benes V, Drewes G, Snyder M, Steinmetz LM
J Biochem 2022 Feb 21;171(2):187-199. doi: 10.1093/jb/mvab131. PMID: 34878535
Hirayama H, Suzuki T
J Biochem 2022 Feb 21;171(2):169-176. doi: 10.1093/jb/mvab127. PMID: 34791337
Han SY, Pandey A, Moore T, Galeone A, Duraine L, Cowan TM, Jafar-Nejad H
PLoS Genet 2020 Dec;16(12):e1009258. Epub 2020 Dec 14 doi: 10.1371/journal.pgen.1009258. PMID: 33315951Free PMC Article
Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM
Mol Genet Metab 2019 Aug;127(4):368-372. Epub 2019 Jul 9 doi: 10.1016/j.ymgme.2019.07.001. PMID: 31311714
Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L
Genet Med 2017 Feb;19(2):160-168. Epub 2016 Jul 7 doi: 10.1038/gim.2016.75. PMID: 27388694Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...