CDG1A
MCID: CNG415
MIFTS: 55

Congenital Disorder of Glycosylation, Type Ia (CDG1A)

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, Smell/Taste diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Ia

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

Name: Congenital Disorder of Glycosylation, Type Ia 56 13 6
Phosphomannomutase 2 Deficiency 56 25 58 73
Cdg Ia 56 25 73 54
Cdg1a 56 25 58 73
Congenital Disorder of Glycosylation Type Ia 25 58 73
Jaeken Syndrome 56 25 73
Carbohydrate-Deficient Glycoprotein Syndrome Type Ia 25 73
Congenital Disorder of Glycosylation Type 1a 58 71
Pmm2-Congenital Disorder of Glycosylation 12 25
Congenital Disorder of Glycosylation 1a 12 73
Cdgs1a 25 73
Cdg-Ia 58 73
Cdgia 56 73
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly 56
Carbohydrate Deficient Glycoprotein Syndrome Type Ia 58
Glycosylation, Congenital Disorder of, Type Ia 39
Congenital Disorder of Glycosylation Ia 12
Cdg Syndrome Type 1a 74
Cdg Syndrome Type Ia 58
Jaeken's Syndrome 73
Pmm2 Deficiency 73
Pmm Deficiency 25
Cdg Ia; Cdgia 56
Pmm2-Cdg 58

Characteristics:

Orphanet epidemiological data:

58
pmm2-cdg
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Italy),1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: infantile,normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
two clinical presentations - solely neurologic form and a neurologic-multivisceral form
mortality approximately 20% in first 2 years


HPO:

31
congenital disorder of glycosylation, type ia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Congenital Disorder of Glycosylation, Type Ia

Genetics Home Reference : 25 PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family. PMM2 PMM2 PMM2 Individuals with PMM2-CDG typically develop signs and symptoms of the condition during infancy. Affected infants may have weak muscle tone (hypotonia), retracted (inverted) nipples, an abnormal distribution of fat, eyes that do not look in the same direction (strabismus), developmental delay, and a failure to gain weight and grow at the expected rate (failure to thrive). Infants with PMM2-CDG also frequently have an underdeveloped cerebellum, which is the part of the brain that coordinates movement. Distinctive facial features are sometimes present in affected individuals, including a high forehead, a triangular face, large ears, and a thin upper lip. Children with PMM2-CDG may also have elevated liver function test results, seizures, fluid around the heart (pericardial effusion), and blood clotting disorders. About 20 percent of affected infants do not survive the first year of life due to multiple organ failure. PMM2 PMM2 PMM2 The most severe cases of PMM2-CDG are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Most babies with hydrops fetalis are stillborn or die soon after birth. PMM2 People with PMM2-CDG who survive infancy may have moderate intellectual disability, and some are unable to walk independently. Affected individuals may also experience stroke-like episodes that involve an extreme lack of energy (lethargy) and temporary paralysis. Recovery from these episodes usually occurs over a period of a few weeks to several months. PMM2 During adolescence or adulthood, individuals with PMM2-CDG have reduced sensation and weakness in their arms and legs (peripheral neuropathy), an abnormal curvature of the spine (kyphoscoliosis), impaired muscle coordination (ataxia), and joint deformities (contractures). Some affected individuals have an eye disorder called retinitis pigmentosa that causes vision loss. Females with PMM2-CDG have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, females with PMM2-CDG do not go through puberty. Affected males experience normal puberty but often have small testes. PMM2 PMM2 PMM2

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ia, also known as phosphomannomutase 2 deficiency, is related to intracranial hypertension and protein-losing enteropathy, and has symptoms including seizures, ataxia and vomiting. An important gene associated with Congenital Disorder of Glycosylation, Type Ia is PMM2 (Phosphomannomutase 2), and among its related pathways/superpathways is Complement and coagulation cascades. Affiliated tissues include eye, liver and heart, and related phenotypes are high palate and upslanted palpebral fissure

Disease Ontology : 12 A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has material basis in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.

OMIM : 56 Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs (see, e.g., CDG2A, 212066) refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. CDG1A is the most common form of CDG and was the first to be characterized at the molecular level (reviews by Marquardt and Denecke, 2003; Grunewald et al., 2002). Matthijs et al. (1997) noted that Jaeken syndrome (CDG1A) is a genetic multisystem disorder characterized by defective glycosylation of glycoconjugates. It usually presents as a severe disorder in the neonatal period. There is a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. There is a 20% lethality in the first year of life due to severe infections, liver insufficiency, or cardiomyopathy. Marques-da-Silva et al. (2017) noted that CDG1A is the most prevalent form of CDG, with more than 700 patients reported worldwide. (212065)

UniProtKB/Swiss-Prot : 73 Congenital disorder of glycosylation 1A: A form of congenital disorder of glycosylation, a multisystem disorder 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. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism.

Wikipedia : 74 PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2. It is an... more...

Related Diseases for Congenital Disorder of Glycosylation, Type Ia

Diseases in the Disorder of Multiple Glycosylation 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 in
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

Diseases related to Congenital Disorder of Glycosylation, Type Ia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 intracranial hypertension 30.5 SERPINC1 F9
2 protein-losing enteropathy 30.5 SERPINC1 PMM2
3 galactosemia 30.1 TF PMM2
4 congenital disorder of glycosylation, type in 29.3 TF SERPINC1 SERPINA7 PMM2 HP CLU
5 congenital disorder of glycosylation, type ie 11.4
6 congenital disorder of glycosylation, type if 11.4
7 phosphomannoisomerase deficiency 11.4
8 congenital disorder of glycosylation, type iic 11.1
9 epileptic encephalopathy, early infantile, 36 11.1
10 congenital disorder of glycosylation, type iim 11.1
11 congenital disorder of glycosylation, type id 11.1
12 congenital disorder of glycosylation, type ib 11.1
13 congenital disorder of glycosylation, type ic 11.1
14 congenital disorder of glycosylation, type iid 11.1
15 congenital disorder of glycosylation, type ig 11.1
16 congenital disorder of glycosylation, type ij 11.1
17 congenital disorder of glycosylation, type ih 11.1
18 congenital disorder of glycosylation, type ik 11.1
19 congenital disorder of glycosylation, type il 11.1
20 congenital disorder of glycosylation, type iil 11.1
21 congenital disorder of glycosylation, type iik 11.1
22 congenital disorder of glycosylation, type it 11.1
23 congenital disorder of deglycosylation 11.1
24 congenital disorder of glycosylation, type iio 11.1
25 congenital disorder of glycosylation, type iip 11.1
26 congenital disorders of n-linked glycosylation and multiple pathway 10.8
27 hypotonia 10.4
28 ataxia and polyneuropathy, adult-onset 10.3
29 hypertrophic cardiomyopathy 10.3
30 cerebellar hypoplasia 10.3
31 prothrombin deficiency 10.2 SERPINC1 F9
32 vitamin k deficiency bleeding 10.2 SERPINC1 F9
33 sneddon syndrome 10.2 SERPINC1 F9
34 arteriovenous malformation 10.2
35 hemopericardium 10.2
36 pericardial effusion 10.2
37 polyneuropathy 10.2
38 hypothyroidism 10.2
39 hypogonadism 10.2
40 peripheral nervous system disease 10.2
41 hypogonadotropism 10.2
42 neuropathy 10.2
43 thrombophilia due to activated protein c resistance 10.2 SERPINC1 F9
44 strabismus 10.2
45 autosomal recessive disease 10.2
46 mechanical strabismus 10.2
47 factor xii deficiency 10.2 SERPINC1 F9
48 factor xiii deficiency 10.2 SERPINC1 F9
49 factor xi deficiency 10.2 SERPINC1 F9
50 infantile hypotonia 10.2

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Ia:



Diseases related to Congenital Disorder of Glycosylation, Type Ia

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ia

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

58 31 (show top 50) (show all 119)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
2 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
3 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
4 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
5 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
8 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
9 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
10 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
11 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
12 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
13 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
14 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
15 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
16 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
17 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
18 inverted nipples 58 31 frequent (33%) Frequent (79-30%) HP:0003186
19 lipodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009125
20 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
21 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
22 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
23 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
24 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
25 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
26 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
27 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
28 long fingers 58 31 frequent (33%) Frequent (79-30%) HP:0100807
29 delayed myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012448
30 abnormal subcutaneous fat tissue distribution 58 31 frequent (33%) Frequent (79-30%) HP:0007552
31 esotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000565
32 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
33 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
34 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
35 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
36 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
37 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
38 rod-cone dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000510
39 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
40 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
41 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
42 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
43 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
44 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
45 hyperinsulinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000842
46 hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001395
47 hypogonadotrophic hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000044
48 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
49 multiple joint contractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002828
50 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
ataxia
olivopontocerebellar hypoplasia
hyporeflexia
psychomotor retardation
more
Head And Neck Eyes:
nystagmus
retinitis pigmentosa
abnormal eye movements
internal strabismus

Endocrine Features:
hypothyroidism
hypergonadotropic hypogonadism
decreased thyroxine
decreased thyroxine-binding globulin

Abdomen Liver:
hepatomegaly
liver fibrosis
steatosis

Abdomen Gastrointestinal:
vomiting
diarrhea
feeding problems

Neurologic Peripheral Nervous System:
peripheral neuropathy

Cardiovascular Heart:
cardiomyopathy
pericardial effusion

Hematology:
thrombocytosis
prolonged prothrombin time
factor xi deficiency
antithrombin iii deficiency

Muscle Soft Tissue:
abnormal subcutaneous fat tissue distribution
weakness

Prenatal Manifestations Amniotic Fluid:
nonimmune hydrops fetalis

Head And Neck Nose:
flat nasal bridge

Skeletal Limbs:
joint contractures

Immunology:
decreased immunoglobulin a (iga)
decreased immunoglobulin g (igg)

Growth Weight:
failure to thrive

Skeletal Spine:
kyphosis

Skeletal:
osteopenia

Laboratory Abnormalities:
proteinuria
hypoalbuminemia
hypocholesterolemia
elevated transaminases
abnormal isoelectric focusing of serum transferrin (type 1 pattern)
more
Head And Neck Face:
prominent forehead

Chest Breasts:
inverted nipples

Genitourinary Kidneys:
nephrotic syndrome
proximal tubulopathy
renal cysts

Skin Nails Hair Skin:
abnormal subcutaneous fat tissue distribution
fat pads
'orange peel' skin

Genitourinary Internal Genitalia Female:
primary ovarian failure

Head And Neck Mouth:
thin upper lip

Head And Neck Ears:
large ears

Head And Neck Head:
microcephaly (50% of patients)

Clinical features from OMIM:

212065

UMLS symptoms related to Congenital Disorder of Glycosylation, Type Ia:


seizures, ataxia, vomiting, diarrhea, weakness

MGI Mouse Phenotypes related to Congenital Disorder of Glycosylation, Type Ia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 ABCB7 CLU F9 HP NEU1 PMM2
2 homeostasis/metabolism MP:0005376 9.86 ABCB7 CLU F9 HP NEU1 PMM2
3 immune system MP:0005387 9.7 CLU F9 HP NEU1 PMM2 SERPINC1
4 liver/biliary system MP:0005370 9.43 ABCB7 F9 HP NEU1 PMM2 SERPINC1
5 renal/urinary system MP:0005367 9.02 CLU HP NEU1 PMM2 SERPINC1

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG) Recruiting NCT03173300

Search NIH Clinical Center for Congenital Disorder of Glycosylation, Type Ia

Genetic Tests for Congenital Disorder of Glycosylation, Type Ia

Anatomical Context for Congenital Disorder of Glycosylation, Type Ia

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

40
Eye, Liver, Heart, Brain, Cerebellum, Testes, Bone

Publications for Congenital Disorder of Glycosylation, Type Ia

Articles related to Congenital Disorder of Glycosylation, Type Ia:

(show top 50) (show all 129)
# Title Authors PMID Year
1
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 54 56 6
9140401 1997
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 56 6
21937992 2011
3
Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation. 56 6
12905014 2003
4
Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency). 56 6
11916319 2001
5
Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). 56 6
10527672 1999
6
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. 54 61 56
12705494 2002
7
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. 61 6
19235233 2009
8
Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. 61 56
18203160 2008
9
Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. 61 6
17166182 2007
10
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. 61 56
17158594 2007
11
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications. 54 56
11596651 2001
12
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients. 54 6
10922383 2000
13
Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping. 54 56
10571956 1999
14
Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families. 54 56
9887379 1998
15
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. 61 6
9497260 1998
16
Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families. 54 56
9119361 1997
17
Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1). 54 56
8812498 1996
18
Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. 54 56
7874123 1994
19
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. 56
28108845 2017
20
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 56
26805780 2016
21
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice. 56
22157680 2011
22
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia. 56
18629883 2008
23
The skeletal manifestations of the congenital disorders of glycosylation. 56
18462449 2008
24
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. 6
17307006 2007
25
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
26
PMM2-CDG (CDG-Ia) 6
20301289 2005
27
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion. 56
15520415 2004
28
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. 56
12756558 2003
29
Hair changes in congenital disorders of glycosylation (CDG type 1). 56
12607543 2003
30
Congenital disorders of glycosylation: a review. 56
12409504 2002
31
Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts. 56
12409508 2002
32
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. 56
11343337 2001
33
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). 6
11156536 2001
34
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. 56
11134235 2001
35
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). 6
10854097 2000
36
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. 56
10801058 2000
37
Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly. 56
10642590 2000
38
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. 6
10602363 1999
39
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency). 56
10571009 1999
40
Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. 56
9762608 1998
41
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. 6
9781039 1998
42
Familial Dandy-Walker variant in CDG syndrome. 56
8725797 1996
43
Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. 56
8617881 1996
44
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. 56
8549746 1995
45
Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients. 56
7848982 1994
46
Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? 56
7962535 1994
47
The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? 56
8286854 1993
48
Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. 56
8216537 1993
49
A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome. 56
8511030 1993
50
Early manifestations of the carbohydrate-deficient glycoprotein syndrome. 56
8419616 1993

Variations for Congenital Disorder of Glycosylation, Type Ia

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

6 (show top 50) (show all 115) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His)SNV Pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153
2 PMM2 NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)SNV Pathogenic 7707 rs78290141 16:8941588-8941588 16:8847731-8847731
3 PMM2 NM_000303.3(PMM2):c.349G>C (p.Gly117Arg)SNV Pathogenic 7713 rs104894530 16:8904937-8904937 16:8811080-8811080
4 PMM2 NM_000303.3(PMM2):c.669C>G (p.Asp223Glu)SNV Pathogenic 7714 rs104894531 16:8941610-8941610 16:8847753-8847753
5 PMM2 NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)SNV Pathogenic 7716 rs80338708 16:8941651-8941651 16:8847794-8847794
6 PMM2 NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)SNV Pathogenic 7717 rs80338709 16:8941663-8941663 16:8847806-8847806
7 PMM2 NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)SNV Pathogenic 7710 rs104894527 16:8898638-8898638 16:8804781-8804781
8 PMM2 NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)SNV Pathogenic 7711 rs80338701 16:8904945-8904945 16:8811088-8811088
9 PMM2 NM_000303.3(PMM2):c.691G>A (p.Val231Met)SNV Pathogenic 7719 rs80338707 16:8941632-8941632 16:8847775-8847775
10 PMM2 NM_000303.3(PMM2):c.95T>G (p.Leu32Arg)SNV Pathogenic 7721 rs104894533 16:8895684-8895684 16:8801827-8801827
11 PMM2 NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)SNV Pathogenic 7722 rs80338706 16:8941618-8941618 16:8847761-8847761
12 PMM2 NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)SNV Pathogenic 7723 rs80338700 16:8900255-8900255 16:8806398-8806398
13 PMM2 PMM2, 28-KB DELdeletion Pathogenic 7726
14 PMM2 NM_000303.3(PMM2):c.256-1G>CSNV Pathogenic 7727 rs757394782 16:8900172-8900172 16:8806315-8806315
15 PMM2 NM_000303.3(PMM2):c.653A>T (p.His218Leu)SNV Pathogenic 21144 rs80338705 16:8941594-8941594 16:8847737-8847737
16 PMM2 NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)indel Pathogenic 92807 rs398123312 16:8895684-8895685 16:8801827-8801828
17 PMM2 NM_000303.3(PMM2):c.255+2T>CSNV Pathogenic 321216 rs139716296 16:8898702-8898702 16:8804845-8804845
18 PMM2 NM_000303.3(PMM2):c.355T>C (p.Phe119Leu)SNV Pathogenic 371231 rs1057517110 16:8904943-8904943 16:8811086-8811086
19 PMM2 NM_000303.3(PMM2):c.324del (p.Ile110fs)deletion Pathogenic 503676 rs1555449314 16:8900241-8900241 16:8806384-8806384
20 PMM2 NC_000016.9:g.(?_8898599)_(8906983_?)deldeletion Pathogenic 530391 16:8898599-8906983 16:8804742-8813126
21 PMM2 NM_000303.3(PMM2):c.640-9T>GSNV Pathogenic 632945 rs370160676 16:8941572-8941572 16:8847715-8847715
22 PMM2 NM_000303.3(PMM2):c.55del (p.Ala19fs)deletion Pathogenic 659079 16:8891794-8891794 16:8797937-8797937
23 PMM2 NM_000303.3(PMM2):c.463C>T (p.Gln155Ter)SNV Pathogenic 656436 16:8905510-8905510 16:8811653-8811653
24 PMM2 NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)SNV Pathogenic 651739 16:8906872-8906872 16:8813015-8813015
25 PMM2 NC_000016.9:g.(?_8891730)_(8906973_?)deldeletion Pathogenic 639371 16:8891730-8906973 16:8797873-8813116
26 PMM2 NC_000016.9:g.(?_8873316)_(8941702_?)deldeletion Pathogenic 661750 16:8873316-8941702 16:8779459-8847845
27 PMM2 NM_000303.3(PMM2):c.-167G>TSNV Pathogenic 656718 16:8891573-8891573 16:8797716-8797716
28 PMM2 NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)SNV Pathogenic 803211 16:8895686-8895686 16:8801829-8801829
29 PMM2 NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)SNV Pathogenic/Likely pathogenic 632947 rs764353860 16:8895698-8895698 16:8801841-8801841
30 PMM2 NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)SNV Pathogenic/Likely pathogenic 92804 rs398123309 16:8906947-8906947 16:8813090-8813090
31 PMM2 NM_000303.3(PMM2):c.392del (p.Pro131fs)deletion Pathogenic/Likely pathogenic 545732 rs1555449607 16:8904977-8904977 16:8811120-8811120
32 PMM2 NM_000303.3(PMM2):c.511dup (p.Thr171fs)duplication Pathogenic/Likely pathogenic 370217 rs1057516323 16:8905557-8905558 16:8811700-8811701
33 PMM2 NM_000303.3(PMM2):c.255+1G>ASNV Pathogenic/Likely pathogenic 417920 rs1060499598 16:8898701-8898701 16:8804844-8804844
34 PMM2 NM_000303.3(PMM2):c.710C>T (p.Thr237Met)SNV Pathogenic/Likely pathogenic 21145 rs80338708 16:8941651-8941651 16:8847794-8847794
35 PMM2 NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)SNV Pathogenic/Likely pathogenic 21143 rs80338703 16:8905003-8905003 16:8811146-8811146
36 PMM2 NM_000303.3(PMM2):c.323C>T (p.Ala108Val)SNV Pathogenic/Likely pathogenic 92800 rs200503569 16:8900240-8900240 16:8806383-8806383
37 PMM2 NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)SNV Pathogenic/Likely pathogenic 225443 rs199562225 16:8906904-8906904 16:8813047-8813047
38 PMM2 NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)SNV Pathogenic/Likely pathogenic 7720 rs104894532 16:8891765-8891765 16:8797908-8797908
39 PMM2 NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)SNV Pathogenic/Likely pathogenic 7712 rs80338704 16:8906887-8906887 16:8813030-8813030
40 PMM2 NM_000303.3(PMM2):c.385G>A (p.Val129Met)SNV Pathogenic/Likely pathogenic 7708 rs104894525 16:8904973-8904973 16:8811116-8811116
41 PMM2 NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)SNV Pathogenic/Likely pathogenic 7709 rs104894526 16:8905531-8905531 16:8811674-8811674
42 PMM2 NM_000303.3(PMM2):c.24del (p.Cys9fs)deletion Pathogenic/Likely pathogenic 188744 rs768021123 16:8891763-8891763 16:8797906-8797906
43 PMM2 NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)SNV Pathogenic/Likely pathogenic 188763 rs190521996 16:8905517-8905517 16:8811660-8811660
44 PMM2 NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)SNV Pathogenic/Likely pathogenic 197659 rs148032587 16:8905030-8905030 16:8811173-8811173
45 PMM2 NM_000303.3(PMM2):c.1A>G (p.Met1Val)SNV Likely pathogenic 188965 rs786204591 16:8891740-8891740 16:8797883-8797883
46 PMM2 NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)SNV Likely pathogenic 197658 rs150719105 16:8905018-8905018 16:8811161-8811161
47 PMM2 NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)SNV Likely pathogenic 189141 rs532870929 16:8906944-8906944 16:8813087-8813087
48 PMM2 NM_000303.3(PMM2):c.395T>C (p.Ile132Thr)SNV Likely pathogenic 7718 rs80338702 16:8904983-8904983 16:8811126-8811126
49 PMM2 NM_000303.3(PMM2):c.131T>C (p.Val44Ala)SNV Likely pathogenic 7725 rs104894534 16:8895720-8895720 16:8801863-8801863
50 PMM2 NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)SNV Likely pathogenic 420784 rs765433263 16:8900254-8900254 16:8806397-8806397

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

73 (show top 50) (show all 66)
# Symbol AA change Variation ID SNP ID
1 PMM2 p.Val44Ala VAR_006093 rs104894534
2 PMM2 p.Asp65Tyr VAR_006094 rs104894527
3 PMM2 p.Asn101Lys VAR_006095 rs769839273
4 PMM2 p.Tyr106Cys VAR_006096 rs387906824
5 PMM2 p.Ala108Val VAR_006097 rs200503569
6 PMM2 p.Pro113Leu VAR_006098 rs80338700
7 PMM2 p.Gly117Arg VAR_006099 rs104894530
8 PMM2 p.Phe119Leu VAR_006100 rs80338701
9 PMM2 p.Arg123Gln VAR_006101 rs141498002
10 PMM2 p.Val129Met VAR_006102 rs104894525
11 PMM2 p.Pro131Ala VAR_006103 rs127454774
12 PMM2 p.Ile132Thr VAR_006104 rs80338702
13 PMM2 p.Arg141His VAR_006105 rs28936415
14 PMM2 p.Arg162Trp VAR_006106 rs104894526
15 PMM2 p.Gly175Arg VAR_006107 rs941830625
16 PMM2 p.Asp188Gly VAR_006108 rs80338704
17 PMM2 p.Gly208Ala VAR_006109 rs398123309
18 PMM2 p.Asn216Ile VAR_006110 rs78290141
19 PMM2 p.Asp223Glu VAR_006111 rs104894531
20 PMM2 p.Tyr229Ser VAR_006112 rs398123311
21 PMM2 p.Val231Met VAR_006113 rs80338707
22 PMM2 p.Thr237Met VAR_006115 rs80338708
23 PMM2 p.Arg238Pro VAR_006116 rs151319324
24 PMM2 p.Glu139Lys VAR_009232 rs80338703
25 PMM2 p.Leu104Val VAR_012344 rs770458492
26 PMM2 p.Cys9Tyr VAR_022469 rs104894532
27 PMM2 p.Phe11Cys VAR_022470
28 PMM2 p.Gly15Glu VAR_022471
29 PMM2 p.Pro20Ser VAR_022472 rs949271895
30 PMM2 p.Leu32Arg VAR_022473 rs398123312
31 PMM2 p.Gln37His VAR_022474
32 PMM2 p.Tyr64Cys VAR_022476
33 PMM2 p.Val67Met VAR_022477 rs131861101
34 PMM2 p.Pro69Ser VAR_022478 rs769648248
35 PMM2 p.Tyr76Cys VAR_022479 rs144018332
36 PMM2 p.Glu93Ala VAR_022480
37 PMM2 p.Cys103Phe VAR_022481
38 PMM2 p.Ile120Thr VAR_022482 rs368582085
39 PMM2 p.Ile132Phe VAR_022483 rs753632453
40 PMM2 p.Ile132Asn VAR_022484
41 PMM2 p.Arg141Cys VAR_022485 rs746610168
42 PMM2 p.Phe144Leu VAR_022486 rs150719105
43 PMM2 p.Asp148Asn VAR_022487 rs148032587
44 PMM2 p.Glu151Gly VAR_022488
45 PMM2 p.Ile153Thr VAR_022489 rs150577656
46 PMM2 p.Phe157Ser VAR_022490 rs190521996
47 PMM2 p.Phe172Val VAR_022491
48 PMM2 p.Gly176Val VAR_022492
49 PMM2 p.Gln177His VAR_022493
50 PMM2 p.Phe183Ser VAR_022494 rs780581250

Expression for Congenital Disorder of Glycosylation, Type Ia

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

Pathways for Congenital Disorder of Glycosylation, Type Ia

Pathways related to Congenital Disorder of Glycosylation, Type Ia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.96 SERPINC1 F9 CLU

GO Terms for Congenital Disorder of Glycosylation, Type Ia

Cellular components related to Congenital Disorder of Glycosylation, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 TF SERPINC1 SERPINA7 HP F9 CLU
2 extracellular region GO:0005576 9.7 TF SERPINC1 SERPINA7 NEU1 HP F9
3 collagen-containing extracellular matrix GO:0062023 9.58 SERPINC1 F9 CLU
4 endoplasmic reticulum lumen GO:0005788 9.5 TF SERPINC1 F9
5 extracellular exosome GO:0070062 9.5 TF SERPINC1 SERPINA7 NEU1 HP F9
6 specific granule lumen GO:0035580 9.37 NEU1 HP
7 blood microparticle GO:0072562 8.92 TF SERPINC1 HP CLU

Biological processes related to Congenital Disorder of Glycosylation, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 9.16 TF ABCB7
2 hemostasis GO:0007599 8.96 SERPINC1 F9
3 positive regulation of receptor-mediated endocytosis GO:0048260 8.62 TF CLU

Sources for Congenital Disorder of Glycosylation, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
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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