MCID: CNG504
MIFTS: 25

Congenital Disorder of Glycosylation, Type Iip

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

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iip

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

Name: Congenital Disorder of Glycosylation, Type Iip 57 75 6
Cdg2p 57 59 75
Cdg Iip 57 75
Cdg-Iip 59 75
Cdgiip 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iip 59
Congenital Disorder of Glycosylation Type Iip 59
Congenital Disorder of Glycosylation Type 2p 59
Congenital Disorder of Glycosylation 2p 75
Cdg Syndrome Type Iip 59
Cdg Iip; Cdgiip 57
Tmem199-Cdg 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in adolescence
mild disorder
some laboratory abnormalities may fluctuate or improve with time
four patients from 3 unrelated families have been reported (last curated february 2016)


HPO:

32
congenital disorder of glycosylation, type iip:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iip

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 2P: 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. CDG2P is characterized by mild metabolic dysfunction, primarily affecting the liver. Psychomotor development is normal.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iip, is also known as cdg2p. An important gene associated with Congenital Disorder of Glycosylation, Type Iip is TMEM199 (Transmembrane Protein 199). Affiliated tissues include liver, and related phenotypes are global developmental delay and generalized hypotonia

OMIM : 57 Congenital disorder of glycosylation type IIp (CDG2P) is an autosomal recessive metabolic disorder characterized by mild liver dysfunction, which may be found incidentally during adolescence. Laboratory abnormalities include elevated liver enzymes and alkaline phosphatase, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066). (616829)

Related Diseases for Congenital Disorder of Glycosylation, Type Iip

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 Io 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 Iip

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypercholesterolemia
increased alkaline phosphatase
abnormal liver enzymes
type 2 pattern of transferrin, indicating n-glycosylation defect
abnormal apoc-iii glycosylation, indicating o-glycosylation defect
more
Muscle Soft Tissue:
hypotonia (1 patient)

Hematology:
decreased serum coagulation factors

Abdomen Liver:
liver dysfunction
liver steatosis
copper accumulation (in some patients)
liver fibrosis, mild

Neurologic Central Nervous System:
delayed psychomotor development (1 patient)


Clinical features from OMIM:

616829

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 occasional (7.5%) HP:0001263
2 generalized hypotonia 32 occasional (7.5%) HP:0001290
3 hepatic steatosis 32 very rare (1%) HP:0001397
4 decreased liver function 32 HP:0001410
5 elevated hepatic transaminases 32 very rare (1%) HP:0002910
6 hypercholesterolemia 32 very rare (1%) HP:0003124
7 increased ldl cholesterol concentration 32 very rare (1%) HP:0003141
8 elevated alkaline phosphatase 32 very rare (1%) HP:0003155
9 decreased serum ceruloplasmin 32 HP:0010837
10 abnormal protein n-linked glycosylation 32 very rare (1%) HP:0012347
11 abnormal protein o-linked glycosylation 32 very rare (1%) HP:0012358

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iip

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iip

Anatomical Context for Congenital Disorder of Glycosylation, Type Iip

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

41
Liver

Publications for Congenital Disorder of Glycosylation, Type Iip

Variations for Congenital Disorder of Glycosylation, Type Iip

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

75
# Symbol AA change Variation ID SNP ID
1 TMEM199 p.Ala7Gly VAR_075770 rs369488804
2 TMEM199 p.Ala14Pro VAR_075771 rs869025586
3 TMEM199 p.Arg31Pro VAR_075772 rs782531869

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM199 NM_152464.2(TMEM199): c.92G> C (p.Arg31Pro) single nucleotide variant Pathogenic rs782531869 GRCh38 Chromosome 17, 28357762: 28357762
2 TMEM199 NM_152464.2(TMEM199): c.92G> C (p.Arg31Pro) single nucleotide variant Pathogenic rs782531869 GRCh37 Chromosome 17, 26684785: 26684785
3 TMEM199 NM_152464.2(TMEM199): c.20C> A (p.Ala7Glu) single nucleotide variant Pathogenic rs369488804 GRCh38 Chromosome 17, 28357690: 28357690
4 TMEM199 NM_152464.2(TMEM199): c.20C> A (p.Ala7Glu) single nucleotide variant Pathogenic rs369488804 GRCh37 Chromosome 17, 26684713: 26684713
5 TMEM199 NM_152464.2(TMEM199): c.40G> C (p.Ala14Pro) single nucleotide variant Pathogenic rs869025586 GRCh38 Chromosome 17, 28357710: 28357710
6 TMEM199 NM_152464.2(TMEM199): c.40G> C (p.Ala14Pro) single nucleotide variant Pathogenic rs869025586 GRCh37 Chromosome 17, 26684733: 26684733
7 TMEM199 NM_152464.2(TMEM199): c.376-1G> A single nucleotide variant Pathogenic rs869025587 GRCh37 Chromosome 17, 26687551: 26687551
8 TMEM199 NM_152464.2(TMEM199): c.376-1G> A single nucleotide variant Pathogenic rs869025587 GRCh38 Chromosome 17, 28360528: 28360528

Expression for Congenital Disorder of Glycosylation, Type Iip

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

Pathways for Congenital Disorder of Glycosylation, Type Iip

GO Terms for Congenital Disorder of Glycosylation, Type Iip

Sources for Congenital Disorder of Glycosylation, Type Iip

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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