CDG1A
MCID: CNG415
MIFTS: 54

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

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 57 13
Phosphomannomutase 2 Deficiency 57 59 75
Cdg Ia 57 75 55
Cdg1a 57 59 75
Congenital Disorder of Glycosylation Type Ia 59 75
Congenital Disorder of Glycosylation Type 1a 59 73
Jaeken Syndrome 57 75
Cdg-Ia 59 75
Cdgia 57 75
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly 57
Carbohydrate-Deficient Glycoprotein Syndrome Type Ia 75
Carbohydrate Deficient Glycoprotein Syndrome Type Ia 59
Glycosylation, Congenital Disorder of, Type Ia 40
Congenital Disorder of Glycosylation 1a 75
Cdg Syndrome Type 1a 76
Cdg Syndrome Type Ia 59
Phosphomannomutase 2 13
Jaeken's Syndrome 75
Pmm2 Deficiency 75
Cdg Ia; Cdgia 57
Pmm2-Cdg 59
Cdgs1a 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Ia

OMIM : 57 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)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ia, also known as phosphomannomutase 2 deficiency, is related to congenital disorder of glycosylation, type iid and congenital disorder of glycosylation, type iik, 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 skin, and related phenotypes are nystagmus and hypothyroidism

UniProtKB/Swiss-Prot : 75 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 : 76 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 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

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iid 31.6 PMM2 TF
2 congenital disorder of glycosylation, type iik 31.6 PMM2 TF
3 congenital disorder of glycosylation, type iia 31.6 PMM2 TF
4 congenital disorder of glycosylation, type iim 31.5 PMM2 TF
5 congenital disorder of glycosylation, type in 30.8 CLU HP PMM2 TF
6 pmm2-congenital disorder of glycosylation 11.9
7 congenital disorder of glycosylation, type ie 11.3
8 congenital disorder of glycosylation, type if 11.3
9 phosphomannoisomerase deficiency 11.3
10 congenital disorder of glycosylation, type iic 10.9
11 epileptic encephalopathy, early infantile, 36 10.9
12 congenital disorder of glycosylation, type id 10.9
13 congenital disorder of glycosylation, type ib 10.9
14 congenital disorder of glycosylation, type ic 10.9
15 congenital disorder of glycosylation, type ig 10.9
16 congenital disorder of glycosylation, type ij 10.9
17 congenital disorder of glycosylation, type ih 10.9
18 congenital disorder of glycosylation, type ik 10.9
19 congenital disorder of glycosylation, type il 10.9
20 congenital disorder of glycosylation, type iil 10.9
21 congenital disorder of glycosylation, type it 10.9
22 congenital disorder of deglycosylation 10.9
23 congenital disorder of glycosylation, type iio 10.9
24 congenital disorder of glycosylation, type iip 10.9
25 congenital disorder of glycosylation with defective fucosylation 10.9
26 hypertrophic cardiomyopathy 10.2
27 congenital disorder of glycosylation, type ii 10.2 PMM2 TF
28 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.1 PMM2 TF
29 inherited blood coagulation disease 10.1 F9 SERPINC1
30 blood coagulation disease 10.1 F9 SERPINC1
31 factor xii deficiency 10.1 F9 SERPINC1
32 congenital disorder of glycosylation, type iif 10.1 PMM2 TF
33 retinal artery occlusion 10.1 F9 SERPINC1
34 factor xi deficiency 10.1 F9 SERPINC1
35 protein c deficiency 10.1 F9 SERPINC1
36 hemophilia b 10.1 F9 SERPINC1
37 cerebral hemorrhage 10.1
38 thrombophilia due to activated protein c resistance 10.1 F9 SERPINC1
39 factor x deficiency 10.1 F9 SERPINC1
40 disseminated intravascular coagulation 10.1 F9 SERPINC1
41 aceruloplasminemia 10.1
42 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
43 cardiac rupture 10.1
44 fetal edema 10.1
45 hydrops fetalis 10.1
46 encephalopathy 10.1
47 cataract 31, multiple types 10.1 F9 HP
48 melancholia 10.1 HP TF
49 iron overload in africa 10.1 HP TF
50 thrombocytopenia 10.1

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
retinitis pigmentosa
abnormal eye movements
internal strabismus

Skeletal:
osteopenia

Growth Weight:
failure to thrive

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)

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

Neurologic Central Nervous System:
seizures
ataxia
hyporeflexia
olivopontocerebellar hypoplasia
hypotonia
more
Skeletal Spine:
kyphosis

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

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

32 (show top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 hypothyroidism 32 HP:0000821
3 osteopenia 32 HP:0000938
4 seizures 32 HP:0001250
5 ataxia 32 HP:0001251
6 muscular hypotonia 32 HP:0001252
7 muscle weakness 32 HP:0001324
8 failure to thrive 32 HP:0001508
9 kyphosis 32 HP:0002808
10 macrotia 32 HP:0000400
11 global developmental delay 32 HP:0001263
12 hepatomegaly 32 HP:0002240
13 depressed nasal bridge 32 HP:0005280
14 microcephaly 32 HP:0000252
15 flexion contracture 32 HP:0001371
16 feeding difficulties in infancy 32 HP:0008872
17 proteinuria 32 HP:0000093
18 vomiting 32 HP:0002013
19 prominent forehead 32 HP:0011220
20 premature ovarian insufficiency 32 HP:0008209
21 hepatic steatosis 32 HP:0001397
22 hepatic fibrosis 32 HP:0001395
23 inverted nipples 32 HP:0003186
24 cardiomyopathy 32 HP:0001638
25 nephrotic syndrome 32 HP:0000100
26 stroke-like episode 32 HP:0002401
27 hypergonadotropic hypogonadism 32 HP:0000815
28 thrombocytosis 32 HP:0001894
29 thin upper lip vermilion 32 HP:0000219
30 diarrhea 32 HP:0002014
31 hyporeflexia 32 HP:0001265
32 rod-cone dystrophy 32 HP:0000510
33 generalized hypotonia 32 HP:0001290
34 iga deficiency 32 HP:0002720
35 polyneuropathy 32 HP:0001271
36 igg deficiency 32 HP:0004315
37 renal cyst 32 HP:0000107
38 abnormal subcutaneous fat tissue distribution 32 HP:0007552
39 proximal tubulopathy 32 HP:0000114
40 prolonged partial thromboplastin time 32 HP:0003645
41 prolonged prothrombin time 32 HP:0008151
42 esotropia 32 HP:0000565
43 hypoalbuminemia 32 HP:0003073
44 hypocholesterolemia 32 HP:0003146
45 pericardial effusion 32 HP:0001698
46 reduced factor xi activity 32 HP:0001929
47 type i transferrin isoform profile 32 HP:0003642
48 abnormality of the amniotic fluid 32 HP:0001560
49 nonimmune hydrops fetalis 32 HP:0001790
50 olivopontocerebellar hypoplasia 32 HP:0006955

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


seizures, ataxia, vomiting, diarrhea, weakness

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 8.92 F9 HP SERPINA7 SERPINC1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 ABCB7 CLU F9 HP NEU1 PMM2
2 homeostasis/metabolism MP:0005376 9.92 ABCB7 CLU F9 HP NEU1 PMM2
3 hematopoietic system MP:0005397 9.85 F9 HP NEU1 PMM2 SERPINC1 TF
4 immune system MP:0005387 9.73 CLU F9 HP NEU1 PMM2 SERPINC1
5 liver/biliary system MP:0005370 9.63 ABCB7 F9 HP NEU1 PMM2 SERPINC1
6 mortality/aging MP:0010768 9.5 ABCB7 F9 HP NEU1 PMM2 SERPINC1
7 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 Natural History Study Protocol in PMM2-CDG (CDG-Ia) 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:

41
Eye, Liver, Skin, Bone, Brain, Heart, Kidney

Publications for Congenital Disorder of Glycosylation, Type Ia

Articles related to Congenital Disorder of Glycosylation, Type Ia:

(show all 39)
# Title Authors Year
1
Yeast Models Of Phosphomannomutase 2 Deficiency, A Congenital Disorder Of Glycosylation. ( 30530630 )
2018
2
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). ( 27415628 )
2016
3
Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). ( 27788260 )
2016
4
Clinical utility gene card for: Phosphomannomutase 2 deficiency. ( 24424124 )
2014
5
Macular hypoplasia in congenital disorder of glycosylation type ia. ( 22649348 )
2012
6
Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia. ( 22374380 )
2012
7
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. ( 22959829 )
2012
8
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. ( 21541725 )
2011
9
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). ( 19272306 )
2009
10
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. ( 19235233 )
2009
11
Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation. ( 19165618 )
2009
12
Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. ( 19396570 )
2009
13
Increased brain lactate during stroke-like episode in a patient with congenital disorder of glycosylation type Ia. ( 18835116 )
2009
14
Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia. ( 18485644 )
2009
15
Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients. ( 19339218 )
2009
16
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia). ( 19357119 )
2009
17
Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. ( 18203160 )
2008
18
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. ( 18571450 )
2008
19
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia. ( 18093857 )
2008
20
Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement. ( 18813717 )
2008
21
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. ( 17158594 )
2007
22
Radiologic and neurophysiologic aspects of stroke-like episodes in children with congenital disorder of glycosylation type Ia. ( 17308246 )
2007
23
Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. ( 17166182 )
2007
24
Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops. ( 16915591 )
2006
25
Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA. ( 16423609 )
2006
26
Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia. ( 16601903 )
2006
27
Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult. ( 16482534 )
2006
28
Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment. ( 15699704 )
2005
29
Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. ( 15714316 )
2005
30
Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations. ( 16435227 )
2005
31
Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia. ( 13129599 )
2003
32
Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia). ( 12244009 )
2002
33
Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia. ( 12297897 )
2002
34
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. ( 12705494 )
2002
35
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA. ( 12013150 )
2002
36
Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant. ( 11935250 )
2002
37
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. ( 11517108 )
2001
38
Band 3 glycoprotein and glycophorin A from erythrocytes of children with congenital disorder of glycosylation type-Ia are underglycosylated. ( 11680873 )
2001
39
Increased alpha3-fucosylation of alpha(1)-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia). ( 11311246 )
2001

Variations for Congenital Disorder of Glycosylation, Type Ia

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

75 (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
4 PMM2 p.Tyr106Cys VAR_006096
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
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

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

6 (show top 50) (show all 191)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh37 Chromosome 16, 8905010: 8905010
2 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh38 Chromosome 16, 8811153: 8811153
3 PMM2 NM_000303.2(PMM2): c.647A> T (p.Asn216Ile) single nucleotide variant Pathogenic rs78290141 GRCh37 Chromosome 16, 8941588: 8941588
4 PMM2 NM_000303.2(PMM2): c.647A> T (p.Asn216Ile) single nucleotide variant Pathogenic rs78290141 GRCh38 Chromosome 16, 8847731: 8847731
5 PMM2 NM_000303.2(PMM2): c.385G> A (p.Val129Met) single nucleotide variant Pathogenic/Likely pathogenic rs104894525 GRCh37 Chromosome 16, 8904973: 8904973
6 PMM2 NM_000303.2(PMM2): c.385G> A (p.Val129Met) single nucleotide variant Pathogenic/Likely pathogenic rs104894525 GRCh38 Chromosome 16, 8811116: 8811116
7 PMM2 NM_000303.2(PMM2): c.484C> T (p.Arg162Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894526 GRCh37 Chromosome 16, 8905531: 8905531
8 PMM2 NM_000303.2(PMM2): c.484C> T (p.Arg162Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894526 GRCh38 Chromosome 16, 8811674: 8811674
9 PMM2 NM_000303.2(PMM2): c.193G> T (p.Asp65Tyr) single nucleotide variant Pathogenic rs104894527 GRCh37 Chromosome 16, 8898638: 8898638
10 PMM2 NM_000303.2(PMM2): c.193G> T (p.Asp65Tyr) single nucleotide variant Pathogenic rs104894527 GRCh38 Chromosome 16, 8804781: 8804781
11 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh37 Chromosome 16, 8904945: 8904945
12 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh38 Chromosome 16, 8811088: 8811088
13 PMM2 NM_000303.2(PMM2): c.563A> G (p.Asp188Gly) single nucleotide variant Pathogenic/Likely pathogenic rs80338704 GRCh37 Chromosome 16, 8906887: 8906887
14 PMM2 NM_000303.2(PMM2): c.563A> G (p.Asp188Gly) single nucleotide variant Pathogenic/Likely pathogenic rs80338704 GRCh38 Chromosome 16, 8813030: 8813030
15 PMM2 NM_000303.2(PMM2): c.349G> C (p.Gly117Arg) single nucleotide variant Pathogenic rs104894530 GRCh37 Chromosome 16, 8904937: 8904937
16 PMM2 NM_000303.2(PMM2): c.349G> C (p.Gly117Arg) single nucleotide variant Pathogenic rs104894530 GRCh38 Chromosome 16, 8811080: 8811080
17 PMM2 NM_000303.2(PMM2): c.669C> G (p.Asp223Glu) single nucleotide variant Pathogenic rs104894531 GRCh37 Chromosome 16, 8941610: 8941610
18 PMM2 NM_000303.2(PMM2): c.669C> G (p.Asp223Glu) single nucleotide variant Pathogenic rs104894531 GRCh38 Chromosome 16, 8847753: 8847753
19 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
20 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh38 Chromosome 16, 8847794: 8847794
21 PMM2 NM_000303.2(PMM2): c.722G> C (p.Cys241Ser) single nucleotide variant Pathogenic rs80338709 GRCh37 Chromosome 16, 8941663: 8941663
22 PMM2 NM_000303.2(PMM2): c.722G> C (p.Cys241Ser) single nucleotide variant Pathogenic rs80338709 GRCh38 Chromosome 16, 8847806: 8847806
23 PMM2 NM_000303.2(PMM2): c.395T> C (p.Ile132Thr) single nucleotide variant Likely pathogenic rs80338702 GRCh37 Chromosome 16, 8904983: 8904983
24 PMM2 NM_000303.2(PMM2): c.395T> C (p.Ile132Thr) single nucleotide variant Likely pathogenic rs80338702 GRCh38 Chromosome 16, 8811126: 8811126
25 PMM2 NM_000303.2(PMM2): c.691G> A (p.Val231Met) single nucleotide variant Pathogenic rs80338707 GRCh37 Chromosome 16, 8941632: 8941632
26 PMM2 NM_000303.2(PMM2): c.691G> A (p.Val231Met) single nucleotide variant Pathogenic rs80338707 GRCh38 Chromosome 16, 8847775: 8847775
27 PMM2 NM_000303.2(PMM2): c.26G> A (p.Cys9Tyr) single nucleotide variant Likely pathogenic rs104894532 GRCh37 Chromosome 16, 8891765: 8891765
28 PMM2 NM_000303.2(PMM2): c.26G> A (p.Cys9Tyr) single nucleotide variant Likely pathogenic rs104894532 GRCh38 Chromosome 16, 8797908: 8797908
29 PMM2 NM_000303.2(PMM2): c.95T> G (p.Leu32Arg) single nucleotide variant Pathogenic rs104894533 GRCh37 Chromosome 16, 8895684: 8895684
30 PMM2 NM_000303.2(PMM2): c.95T> G (p.Leu32Arg) single nucleotide variant Pathogenic rs104894533 GRCh38 Chromosome 16, 8801827: 8801827
31 PMM2 NM_000303.2(PMM2): c.677C> G (p.Thr226Ser) single nucleotide variant Pathogenic rs80338706 GRCh37 Chromosome 16, 8941618: 8941618
32 PMM2 NM_000303.2(PMM2): c.677C> G (p.Thr226Ser) single nucleotide variant Pathogenic rs80338706 GRCh38 Chromosome 16, 8847761: 8847761
33 PMM2 NM_000303.2(PMM2): c.338C> T (p.Pro113Leu) single nucleotide variant Pathogenic rs80338700 GRCh37 Chromosome 16, 8900255: 8900255
34 PMM2 NM_000303.2(PMM2): c.338C> T (p.Pro113Leu) single nucleotide variant Pathogenic rs80338700 GRCh38 Chromosome 16, 8806398: 8806398
35 PMM2 NM_000303.2(PMM2): c.131T> C (p.Val44Ala) single nucleotide variant Likely pathogenic rs104894534 GRCh37 Chromosome 16, 8895720: 8895720
36 PMM2 NM_000303.2(PMM2): c.131T> C (p.Val44Ala) single nucleotide variant Likely pathogenic rs104894534 GRCh38 Chromosome 16, 8801863: 8801863
37 PMM2 PMM2, 28-KB DEL deletion Pathogenic
38 PMM2 NM_000303.2(PMM2): c.256-1G> C single nucleotide variant Pathogenic rs757394782 GRCh38 Chromosome 16, 8806315: 8806315
39 PMM2 NM_000303.2(PMM2): c.256-1G> C single nucleotide variant Pathogenic rs757394782 GRCh37 Chromosome 16, 8900172: 8900172
40 PMM2 NM_000303.2(PMM2): c.415G> A (p.Glu139Lys) single nucleotide variant Pathogenic/Likely pathogenic rs80338703 GRCh37 Chromosome 16, 8905003: 8905003
41 PMM2 NM_000303.2(PMM2): c.415G> A (p.Glu139Lys) single nucleotide variant Pathogenic/Likely pathogenic rs80338703 GRCh38 Chromosome 16, 8811146: 8811146
42 PMM2 NM_000303.2(PMM2): c.653A> T (p.His218Leu) single nucleotide variant Pathogenic rs80338705 GRCh37 Chromosome 16, 8941594: 8941594
43 PMM2 NM_000303.2(PMM2): c.653A> T (p.His218Leu) single nucleotide variant Pathogenic rs80338705 GRCh38 Chromosome 16, 8847737: 8847737
44 PMM2 NM_000303.2(PMM2): c.710C> T (p.Thr237Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
45 PMM2 NM_000303.2(PMM2): c.710C> T (p.Thr237Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh38 Chromosome 16, 8847794: 8847794
46 PMM2 NM_000303.2(PMM2): c.317A> T (p.Tyr106Phe) single nucleotide variant Uncertain significance rs387906824 GRCh37 Chromosome 16, 8900234: 8900234
47 PMM2 NM_000303.2(PMM2): c.317A> T (p.Tyr106Phe) single nucleotide variant Uncertain significance rs387906824 GRCh38 Chromosome 16, 8806377: 8806377
48 PMM2 NM_000303.2(PMM2): c.323C> T (p.Ala108Val) single nucleotide variant Pathogenic/Likely pathogenic rs200503569 GRCh37 Chromosome 16, 8900240: 8900240
49 PMM2 NM_000303.2(PMM2): c.323C> T (p.Ala108Val) single nucleotide variant Pathogenic/Likely pathogenic rs200503569 GRCh38 Chromosome 16, 8806383: 8806383
50 PMM2 NM_000303.2(PMM2): c.447+19T> C single nucleotide variant Benign rs11074924 GRCh37 Chromosome 16, 8905054: 8905054

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 10.94 CLU F9 SERPINC1

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 CLU F9 HP SERPINA7 SERPINC1 TF
2 extracellular region GO:0005576 9.7 CLU F9 HP NEU1 SERPINA7 SERPINC1
3 endoplasmic reticulum lumen GO:0005788 9.5 F9 SERPINC1 TF
4 extracellular exosome GO:0070062 9.5 CLU F9 HP NEU1 SERPINA7 SERPINC1
5 specific granule lumen GO:0035580 9.37 HP NEU1
6 blood microparticle GO:0072562 8.92 CLU HP SERPINC1 TF

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 ABCB7 TF
2 hemostasis GO:0007599 8.96 F9 SERPINC1
3 positive regulation of receptor-mediated endocytosis GO:0048260 8.62 CLU TF

Sources for Congenital Disorder of Glycosylation, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
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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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