MCID: SLC037
MIFTS: 12

Slc35a2-Congenital Disorder of Glycosylation

Categories: Neuronal diseases

Aliases & Classifications for Slc35a2-Congenital Disorder of Glycosylation

MalaCards integrated aliases for Slc35a2-Congenital Disorder of Glycosylation:

Name: Slc35a2-Congenital Disorder of Glycosylation 25
Congenital Disorder of Glycosylation, Type Iim 25
Epileptic Encephalopathy, Early Infantile, 22 25
Cdg Syndrome Type Iim 25
Slc35a2-Cdg 25
Cdg Iim 25
Cdg-Iim 25
Cdgiim 25
Eiee22 25
Cdg2m 25

Classifications:



Summaries for Slc35a2-Congenital Disorder of Glycosylation

Genetics Home Reference : 25 SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG, formerly known as congenital disorder of glycosylation type IIm) is an inherited condition that causes neurological problems and other abnormalities. This disorder's signs and symptoms and their severity vary among affected individuals. SLC35A2 SLC35A2 Individuals with SLC35A2-CDG typically develop signs and symptoms of the condition early in infancy. Seizures develop within the first months of life, usually involving uncontrollable muscle stiffening (infantile spasms) that can switch to shorter episodes of muscle jerks (epileptic spasms) later in childhood. In some individuals, the seizures do not improve with anti-epileptic medications. Individuals with SLC35A2-CDG often have abnormal brain function (encephalopathy), unusual facial features, skeletal abnormalities, and weak muscle tone (hypotonia) with poor head control. They also have severe intellectual disability and delayed development, often only being able to sit or crawl and never developing meaningful speech. Affected children may have feeding difficulties and fail to grow or gain weight at the expected rate. Some have vision or hearing problems. SLC35A2 SLC35A2 In SLC35A2-CDG, medical imaging shows loss of tissue (atrophy) in parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking ability, hearing, vision, emotion, and coordinated movement. There can also be thinning of the tissue that connects the left and right halves of the brain (the corpus callosum) or a fluid-filled sac (cyst) on the membrane that surrounds the brain (arachnoid pouch). SLC35A2

MalaCards based summary : Slc35a2-Congenital Disorder of Glycosylation, also known as congenital disorder of glycosylation, type iim, is related to congenital disorder of glycosylation, type iim and congenital disorder of glycosylation, type in. Affiliated tissues include brain and cerebellum.

Related Diseases for Slc35a2-Congenital Disorder of Glycosylation

Diseases related to Slc35a2-Congenital Disorder of Glycosylation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iim 13.0
2 congenital disorder of glycosylation, type in 10.3
3 congenital disorders of n-linked glycosylation and multiple pathway 10.3
4 hypotonia 10.3
5 abnormal hair, joint laxity, and developmental delay 10.2
6 ataxia and polyneuropathy, adult-onset 10.2
7 cerebral atrophy 10.2
8 encephalopathy 10.2

Graphical network of the top 20 diseases related to Slc35a2-Congenital Disorder of Glycosylation:



Diseases related to Slc35a2-Congenital Disorder of Glycosylation

Symptoms & Phenotypes for Slc35a2-Congenital Disorder of Glycosylation

Drugs & Therapeutics for Slc35a2-Congenital Disorder of Glycosylation

Search Clinical Trials , NIH Clinical Center for Slc35a2-Congenital Disorder of Glycosylation

Genetic Tests for Slc35a2-Congenital Disorder of Glycosylation

Anatomical Context for Slc35a2-Congenital Disorder of Glycosylation

MalaCards organs/tissues related to Slc35a2-Congenital Disorder of Glycosylation:

40
Brain, Cerebellum

Publications for Slc35a2-Congenital Disorder of Glycosylation

Articles related to Slc35a2-Congenital Disorder of Glycosylation:

(show all 12)
# Title Authors PMID Year
1
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. 61
32103184 2020
2
Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation. 61
32547898 2020
3
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center. 61
31677975 2019
4
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 61
30817854 2019
5
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients. 61
30746764 2019
6
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation. 61
29869806 2018
7
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report. 61
29907092 2018
8
Congenital disorders of glycosylation: The Saudi experience. 61
28742265 2017
9
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. 61
26307094 2015
10
A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. 61
25778940 2015
11
Congenital disorders of glycosylation with emphasis on cerebellar involvement. 61
25192513 2014
12
Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation. 61
23928051 2013

Variations for Slc35a2-Congenital Disorder of Glycosylation

Expression for Slc35a2-Congenital Disorder of Glycosylation

Search GEO for disease gene expression data for Slc35a2-Congenital Disorder of Glycosylation.

Pathways for Slc35a2-Congenital Disorder of Glycosylation

GO Terms for Slc35a2-Congenital Disorder of Glycosylation

Sources for Slc35a2-Congenital Disorder of Glycosylation

3 CDC
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10 dbSNP
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17 EFO
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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