CDG2N
MCID: CNG498
MIFTS: 28

Congenital Disorder of Glycosylation, Type Iin (CDG2N)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iin

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type Iin:

Name: Congenital Disorder of Glycosylation, Type Iin 57 75 29 6
Cdg2n 57 12 59 75
Cdg Iin 57 12 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iin 12 59
Congenital Disorder of Glycosylation Type Iin 12 59
Congenital Disorder of Glycosylation Type 2n 12 59
Cdg Syndrome Type Iin 12 59
Slc39a8-Cdg 12 59
Cdg-Iin 59 75
Cdgiin 57 75
Congenital Disorder of Glycosylation 2n 75
Slc39a8 Deficiency 59
Cdg Iin; Cdgiin 57
Cdgiidn 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
congenital disorder of glycosylation, type iin:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iin

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 2N: A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iin, is also known as cdg2n. An important gene associated with Congenital Disorder of Glycosylation, Type Iin is SLC39A8 (Solute Carrier Family 39 Member 8). Affiliated tissues include skin, liver and bone, and related phenotypes are nystagmus and osteopenia

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of SLC39A8 on chromosome 4q24.

OMIM : 57 Congenital disorder of glycosylation type IIn (CDG2N) is an autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. Serum transferrin analysis shows a CDG type II pattern (summary by Boycott et al., 2015 and Park et al., 2015). For a discussion of genetic heterogeneity of CDG type II, see CDG2A (212066). (616721)

Related Diseases for Congenital Disorder of Glycosylation, Type Iin

Diseases in the Congenital Disorder of Glycosylation, Type in family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ii
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type if
Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Iij Congenital Disorder of Glycosylation, Type Iii
Congenital Disorder of Glycosylation, Type Ip Congenital Disorder of Glycosylation, Type Ir
Congenital Disorder of Glycosylation, Type Iil Congenital Disorder of Glycosylation, Type Iik
Congenital Disorder of Glycosylation, Type It Congenital Disorder of Glycosylation, Type Iu
Congenital Disorder of Glycosylation, Type Iw Congenital Disorder of Glycosylation, Type Ix
Congenital Disorder of Glycosylation, Type Iin Congenital Disorder of Glycosylation, Type Iio
Congenital Disorder of Glycosylation, Type Iip Congenital Disorder of Glycosylation, Type Iiq

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iin

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
astigmatism
poor visual fixation (in some patients)

Neurologic Central Nervous System:
inability to walk
intellectual disability, profound
cerebellar atrophy
seizures (in some patients)
delayed psychomotor development, profound
more
Skeletal:
osteopenia (in some patients)
joint hypermobility (in some patients)

Head And Neck Ears:
hearing loss (1 patient)

Laboratory Abnormalities:
serum transferrin glycosylation defect in a type ii pattern
decreased plasma zinc and manganese
increased urinary zinc and manganese (in some patients)

Growth Height:
short stature

Immunology:
recurrent infections (in some patients)

Skeletal Skull:
craniosynostosis (1 patient)

Muscle Soft Tissue:
hypotonia, profound


Clinical features from OMIM:

616721

Human phenotypes related to Congenital Disorder of Glycosylation, Type Iin:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 osteopenia 32 occasional (7.5%) HP:0000938
3 seizures 32 occasional (7.5%) HP:0001250
4 hearing impairment 32 occasional (7.5%) HP:0000365
5 global developmental delay 32 HP:0001263
6 short stature 32 HP:0004322
7 strabismus 32 HP:0000486
8 inability to walk 32 HP:0002540
9 joint hypermobility 32 occasional (7.5%) HP:0001382
10 recurrent infections 32 occasional (7.5%) HP:0002719
11 intellectual disability, profound 32 HP:0002187
12 craniosynostosis 32 occasional (7.5%) HP:0001363
13 cerebellar atrophy 32 HP:0001272
14 astigmatism 32 HP:0000483
15 generalized hypotonia 32 HP:0001290
16 cerebral atrophy 32 occasional (7.5%) HP:0002059

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iin

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type Iin

Genetic Tests for Congenital Disorder of Glycosylation, Type Iin

Genetic tests related to Congenital Disorder of Glycosylation, Type Iin:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation, Type Iin 29 SLC39A8

Anatomical Context for Congenital Disorder of Glycosylation, Type Iin

MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type Iin:

41
Skin, Liver, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Iin

Articles related to Congenital Disorder of Glycosylation, Type Iin:

# Title Authors Year
1
SLC39A8 deficiency: a disorder of manganese transport and glycosylation. ( 26637979 )
2015

Variations for Congenital Disorder of Glycosylation, Type Iin

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type Iin:

75
# Symbol AA change Variation ID SNP ID
1 SLC39A8 p.Val33Met VAR_076241 rs373562040
2 SLC39A8 p.Gly38Arg VAR_076242 rs778210210
3 SLC39A8 p.Gly204Cys VAR_076243 rs779241085
4 SLC39A8 p.Ser335Thr VAR_076244 rs864309660
5 SLC39A8 p.Ile340Asn VAR_076245 rs864309659

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type Iin:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC39A8 NM_022154.5(SLC39A8): c.112G> C (p.Gly38Arg) single nucleotide variant Pathogenic rs778210210 GRCh38 Chromosome 4, 102344551: 102344551
2 SLC39A8 NM_022154.5(SLC39A8): c.112G> C (p.Gly38Arg) single nucleotide variant Pathogenic rs778210210 GRCh37 Chromosome 4, 103265708: 103265708
3 SLC39A8 NM_022154.5(SLC39A8): c.1019T> A (p.Ile340Asn) single nucleotide variant Uncertain significance rs864309659 GRCh37 Chromosome 4, 103189058: 103189058
4 SLC39A8 NM_022154.5(SLC39A8): c.1019T> A (p.Ile340Asn) single nucleotide variant Uncertain significance rs864309659 GRCh38 Chromosome 4, 102267901: 102267901
5 SLC39A8 NM_022154.5(SLC39A8): c.610G> T (p.Gly204Cys) single nucleotide variant Pathogenic rs779241085 GRCh37 Chromosome 4, 103226211: 103226211
6 SLC39A8 NM_022154.5(SLC39A8): c.610G> T (p.Gly204Cys) single nucleotide variant Pathogenic rs779241085 GRCh38 Chromosome 4, 102305054: 102305054
7 SLC39A8 NM_022154.5(SLC39A8): c.1004G> C (p.Ser335Thr) single nucleotide variant no interpretation for the single variant rs864309660 GRCh38 Chromosome 4, 102267916: 102267916
8 SLC39A8 NM_022154.5(SLC39A8): c.1004G> C (p.Ser335Thr) single nucleotide variant no interpretation for the single variant rs864309660 GRCh37 Chromosome 4, 103189073: 103189073
9 SLC39A8 NM_022154.5(SLC39A8): c.97G> A (p.Val33Met) single nucleotide variant no interpretation for the single variant rs373562040 GRCh37 Chromosome 4, 103265723: 103265723
10 SLC39A8 NM_022154.5(SLC39A8): c.97G> A (p.Val33Met) single nucleotide variant no interpretation for the single variant rs373562040 GRCh38 Chromosome 4, 102344566: 102344566

Expression for Congenital Disorder of Glycosylation, Type Iin

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Iin.

Pathways for Congenital Disorder of Glycosylation, Type Iin

GO Terms for Congenital Disorder of Glycosylation, Type Iin

Sources for Congenital Disorder of Glycosylation, Type Iin

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10 dbSNP
11 DGIdb
17 ExPASy
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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