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TMEM199-CDG(CDGIIp; CDG2P)

MedGen UID:: 895025
•Concept ID:: C4225190
•: Disease or Syndrome

Synonyms:	CDG IIp; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
SNOMED CT:	Transmembrane protein 199 congenital disorder of glycosylation (1208738002); TMEM199 congenital disorder of glycosylation (1208738002); Congenital disorder of glycosylation type IIp (1208738002); TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation (1208738002); CDG (congenital disorder of glycosylation) syndrome type IIp (1208738002); Carbohydrate deficient glycoprotein syndrome type IIp (1208738002)
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.	TMEM199 (17q11.2)

Monarch Initiative:	MONDO:0014790
OMIM®:	616829
Orphanet:	ORPHA466703

Definition

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). [from OMIM]

Clinical features

From HPO

Decreased liver function

MedGen UID:: 65430
•Concept ID:: C0232744
•: Finding

Reduced ability of the liver to perform its functions.

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Hepatic steatosis

MedGen UID:: 398225
•Concept ID:: C2711227
•: Disease or Syndrome

Steatosis is a term used to denote lipid accumulation within hepatocytes.

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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.

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Generalized hypotonia

MedGen UID:: 346841
•Concept ID:: C1858120
•: Finding

Generalized muscular hypotonia (abnormally low muscle tone).

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Hypercholesterolemia

MedGen UID:: 5687
•Concept ID:: C0020443
•: Disease or Syndrome

An increased concentration of cholesterol in the blood.

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Decreased circulating ceruloplasmin concentration

MedGen UID:: 472980
•Concept ID:: C0240997
•: Finding

Decreased concentration of ceruloplasmin in the blood.

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Increased LDL cholesterol concentration

MedGen UID:: 154289
•Concept ID:: C0549399
•: Finding

An elevated concentration of low-density lipoprotein cholesterol in the blood.

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Elevated circulating alkaline phosphatase concentration

MedGen UID:: 727252
•Concept ID:: C1314665
•: Finding

Abnormally increased serum levels of alkaline phosphatase activity.

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Elevated circulating hepatic transaminase concentration

MedGen UID:: 338525
•Concept ID:: C1848701
•: Finding

Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

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Abnormal protein O-linked glycosylation

MedGen UID:: 868534
•Concept ID:: C4022933
•: Anatomical Abnormality

An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.

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Abnormal protein N-linked glycosylation

MedGen UID:: 868545
•Concept ID:: C4022944
•: Finding

An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.

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Abnormality of metabolism/homeostasis
Abnormality of the digestive system
- Decreased liver function
- Hepatic steatosis
Abnormality of the musculoskeletal system
- Generalized hypotonia
Abnormality of the nervous system
- Global developmental delay

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVTMEM199-CDG

Disorder of multiple glycosylation
- TMEM199-CDG

Recent clinical studies

Etiology

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

Marques-da-Silva D, Dos Reis Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, Jaeken J, Cassiman D
J Inherit Metab Dis 2017 Mar;40(2):195-207. Epub 2017 Jan 20 doi: 10.1007/s10545-016-0012-4. PMID: 28108845

See all (1)

Diagnosis

HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases.

Messina A, Palmigiano A, Esposito F, Fiumara A, Bordugo A, Barone R, Sturiale L, Jaeken J, Garozzo D
Glycoconj J 2021 Apr;38(2):201-211. Epub 2020 Sep 11 doi: 10.1007/s10719-020-09947-7. PMID: 32915358

CCDC115-CDG: A new rare and misleading inherited cause of liver disease.

Girard M, Poujois A, Fabre M, Lacaille F, Debray D, Rio M, Fenaille F, Cholet S, Ruel C, Caussé E, Selves J, Bridoux-Henno L, Woimant F, Dupré T, Vuillaumier-Barrot S, Seta N, Alric L, de Lonlay P, Bruneel A
Mol Genet Metab 2018 Jul;124(3):228-235. Epub 2018 May 9 doi: 10.1016/j.ymgme.2018.05.002. PMID: 29759592

Clinical glycomics for the diagnosis of congenital disorders of glycosylation.

Abu Bakar N, Lefeber DJ, van Scherpenzeel M
J Inherit Metab Dis 2018 May;41(3):499-513. Epub 2018 Mar 1 doi: 10.1007/s10545-018-0144-9. PMID: 29497882 Free PMC Article

Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.

Vajro P, Zielinska K, Ng BG, Maccarana M, Bengtson P, Poeta M, Mandato C, D'Acunto E, Freeze HH, Eklund EA
Orphanet J Rare Dis 2018 Jan 10;13(1):4. doi: 10.1186/s13023-017-0757-3. PMID: 29321044 Free PMC Article

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

See all (5)

Prognosis

CCDC115-CDG: A new rare and misleading inherited cause of liver disease.

Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.

See all (2)

Clinical prediction guides

Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation.

Fiumara A, Sapuppo A, Ferri L, Arena A, Prato A, Garozzo D, Sturiale L, Morrone A, Barone R
Eur J Med Genet 2023 Mar;66(3):104709. Epub 2023 Jan 24 doi: 10.1016/j.ejmg.2023.104709. PMID: 36706865

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Recent systematic reviews

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

See all (1)

MedGen

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TMEM199-CDG(CDGIIp; CDG2P)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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