IMD23
MCID: IMM080
MIFTS: 51

Immunodeficiency 23 (IMD23)

Categories: Blood diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 23

MalaCards integrated aliases for Immunodeficiency 23:

Name: Immunodeficiency 23 57 12 20 73 29 6 15 71
Pgm3-Related Congenital Disorder of Glycosylation 12 20 58
Combined Immunodeficiency Due to Pgm3 Deficiency 12 20 58
Cid Due to Pgm3 Deficiency 12 20 58
Pgm3-Cdg 12 20 58
Imd23 57 12 73
Immunodeficiency with Hyper Ige and Cognitive Impairment 57 73
Immunodeficiency-Vasculitis-Myoclonus Syndrome 57 73
Ivms 57 73
Immunodeficiency-Vasculitis-Myoclonus Syndrome; Ivms 57
Phosphoglucomutase Deficiency Type 3 20
Phosphoglucomutase 3 Deficiency 20
Immunodeficiency, Type 23 39

Characteristics:

Orphanet epidemiological data:

58
pgm3-cdg
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
neurologic features are variable and not progressive


HPO:

31
immunodeficiency 23:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Rare immunological diseases


Summaries for Immunodeficiency 23

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 443811DefinitionPGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.Visit the Orphanet disease page for more resources.

MalaCards based summary : Immunodeficiency 23, also known as pgm3-related congenital disorder of glycosylation, is related to pgm3-congenital disorder of glycosylation and congenital disorder of glycosylation, type iid, and has symptoms including ataxia An important gene associated with Immunodeficiency 23 is PGM3 (Phosphoglucomutase 3), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. The drugs Sage and Desogestrel have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and neutrophil, and related phenotypes are recurrent skin infections and cutaneous abscess

Disease Ontology : 12 A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has material basis in homozygous or compound heterozygous mutation in PGM3 on chromosome 6q14.1.

OMIM® : 57 IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity (summary by Bjorksten and Lundmark, 1976 and Zhang et al., 2014). (615816) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Immunodeficiency 23: A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity.

Related Diseases for Immunodeficiency 23

Graphical network of the top 20 diseases related to Immunodeficiency 23:



Diseases related to Immunodeficiency 23

Symptoms & Phenotypes for Immunodeficiency 23

Human phenotypes related to Immunodeficiency 23:

58 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent skin infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0001581
2 cutaneous abscess 58 31 hallmark (90%) Very frequent (99-80%) HP:0031292
3 decreased proportion of cd4-positive helper t cells 31 hallmark (90%) HP:0005407
4 failure to thrive 58 31 very rare (1%) Frequent (79-30%) HP:0001508
5 ataxia 58 31 very rare (1%) Frequent (79-30%) HP:0001251
6 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
7 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
8 recurrent pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0006532
9 sepsis 58 31 frequent (33%) Frequent (79-30%) HP:0100806
10 moderate global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011343
11 recurrent bacterial infections 58 31 frequent (33%) Frequent (79-30%) HP:0002718
12 recurrent viral infections 58 31 frequent (33%) Frequent (79-30%) HP:0004429
13 rheumatoid factor positive 58 31 very rare (1%) Frequent (79-30%) HP:0002923
14 vasculitis in the skin 58 31 frequent (33%) Frequent (79-30%) HP:0200029
15 atopic dermatitis 58 31 frequent (33%) Frequent (79-30%) HP:0001047
16 increased circulating igg level 58 31 very rare (1%) Frequent (79-30%) HP:0003237
17 decreased proportion of cd3-positive t cells 58 31 frequent (33%) Frequent (79-30%) HP:0045080
18 reduced antigen-specific t cell proliferation 58 31 frequent (33%) Frequent (79-30%) HP:0031402
19 increased circulating ige level 31 very rare (1%) HP:0003212
20 dysarthria 58 31 very rare (1%) Occasional (29-5%) HP:0001260
21 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
22 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
23 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
24 hemolytic anemia 58 31 very rare (1%) Occasional (29-5%) HP:0001878
25 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
26 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
27 asthma 58 31 very rare (1%) Occasional (29-5%) HP:0002099
28 eosinophilia 58 31 very rare (1%) Occasional (29-5%) HP:0001880
29 bone marrow hypocellularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0005528
30 bronchiectasis 58 31 very rare (1%) Occasional (29-5%) HP:0002110
31 severe combined immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0004430
32 narrow palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0045025
33 cortical myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0040148
34 increased circulating iga level 58 31 occasional (7.5%) Occasional (29-5%) HP:0003261
35 mild neurosensory hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008587
36 recurrent fungal infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002841
37 neutropenia in presence of anti-neutropil antibodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0001904
38 allergic rhinitis 58 31 very rare (1%) Occasional (29-5%) HP:0003193
39 chronic sinusitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011109
40 membranoproliferative glomerulonephritis 58 31 very rare (1%) Occasional (29-5%) HP:0000793
41 decreased/absent ankle reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0200101
42 hyperactive patellar reflex 58 31 occasional (7.5%) Occasional (29-5%) HP:0007083
43 lactose intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0004789
44 abnormal cd4:cd8 ratio 58 31 occasional (7.5%) Occasional (29-5%) HP:0031394
45 reduced natural killer cell count 58 31 occasional (7.5%) Occasional (29-5%) HP:0040218
46 abnormal proportion of cd8-positive t cells 31 occasional (7.5%) HP:0031393
47 recurrent respiratory infections 58 31 very rare (1%) Very frequent (99-80%) HP:0002205
48 sensorineural hearing impairment 58 31 very rare (1%) Occasional (29-5%) HP:0000407
49 short stature 58 31 very rare (1%) Very rare (<4-1%) HP:0004322
50 gastroesophageal reflux 58 31 very rare (1%) Very rare (<4-1%) HP:0002020

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
cortical myoclonus
delayed development
more
Respiratory:
recurrent respiratory infections
asthma

Neurologic Peripheral Nervous System:
sensory impairment
ankle hyporeflexia

Head And Neck Nose:
allergic rhinitis
wide nostrils

Head And Neck Mouth:
high-arched palate
oromotor deficits
prominent lip

Skin Nails Hair Skin:
dermatitis
atopy
cutaneous vasculitis
erythema multiforme major

Genitourinary Kidneys:
membranoproliferative glomerulonephritis (in some patients)

Skeletal Spine:
scoliosis

Immunology:
lymphopenia
neutropenia
immune deficiency
decreased cd4+ t cells
decreased cd8+ t cells
more
Respiratory Lung:
bronchiectasis

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
hearing loss, conductive
hearing loss, sensorineural

Hematology:
hemolytic anemia (in some patients)

Laboratory Abnormalities:
hyposialylation of o-linked serum glycans
decreased udp-glcnac
decreased formation of complex (tri-, tetra-antennary) n-glycans
serum transferrin glycosylation is normal
ebv viremia

Clinical features from OMIM®:

615816 (Updated 05-Mar-2021)

UMLS symptoms related to Immunodeficiency 23:


ataxia

Drugs & Therapeutics for Immunodeficiency 23

Drugs for Immunodeficiency 23 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sage Approved Phase 3
2
Desogestrel Approved Phase 3 54024-22-5 40973
3
Artemether Approved Phase 3 71963-77-4 119380 9796294 68911
4
Lumefantrine Approved Phase 3 82186-77-4 6437380
5
Ivermectin Approved, Investigational, Vet_approved Phase 3 70288-86-7 6474909
6
Albendazole Approved, Vet_approved Phase 3 54965-21-8 2082
7
Diethylcarbamazine Approved, Investigational, Vet_approved Phase 3 90-89-1 3052
8
Sodium citrate Approved, Investigational Phase 3 68-04-2
9
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
10
Dihydroartemisinin Experimental, Investigational Phase 3 71939-50-9 6918483
11
Piperaquine Experimental, Investigational Phase 3 4085-31-8 5079497
12 Estrogens Phase 3
13 Vitamins Phase 3
14 Follicle Stimulating Hormone Phase 3
15 Contraceptive Agents Phase 3
16 Contraceptives, Oral, Combined Phase 3
17 Contraceptives, Oral Phase 3
18 Progestins Phase 3
19 Artemether, Lumefantrine Drug Combination Phase 3
20 Antimalarials Phase 3
21 Anti-Infective Agents Phase 3
22 Antiparasitic Agents Phase 3
23 Antiprotozoal Agents Phase 3
24 Anthelmintics Phase 3
25 Antimitotic Agents Phase 3
26 Tubulin Modulators Phase 3
27 Citrate Phase 3
28 Milbemycin Phase 3
29
Primaquine Approved Phase 1 90-34-6 4908
30 Phosphodiesterase 3 Inhibitors Phase 1
31
Altretamine Approved 645-05-6 2123
32
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
33
tannic acid Approved 1401-55-4
34
Menotropins Approved 9002-68-0, 61489-71-2 5360545
35
Heparin Approved, Investigational 9005-49-6 772 9812414
36 Pharmaceutical Solutions
37 Insulin, Globin Zinc
38 Natriuretic Peptide, C-Type
39 Mitogens
40 insulin
41 calcium heparin
42 Hormones
43 Hormone Antagonists
44 Chorionic Gonadotropin

Interventional clinical trials:

(show all 37)
# Name Status NCT ID Phase Drugs
1 New Application of Oocyte Sequential Culture and in Vitro Muturation System for Infertility Patients With Polycystic Ovary Syndrome: a Multi-center Prospective Randomized Clinical Trial Unknown status NCT03773263 Phase 3 sequential IVM system;traditional IVM system
2 Comparison of Ivermectin Alone With Albendazole (ALB) Plus Ivermectin (IVM) in Their Efficacy Against Onchocerciasis in the Volta Region, Ghana. Completed NCT02078024 Phase 3 IVM plus ALB;IVM
3 Comparison of Ivermectin Alone With Albendazole (ALB) Plus Ivermectin (IVM) in Their Efficacy Against Onchocerciasis Completed NCT03238131 Phase 3 Ivermectin;Albendazole
4 A Comparison Between Corifollitropin Alfa and Recombinant FSH for Follicular Recruitment in Women With Polycystic Ovaries Who Undergo IVM Treatment Recruiting NCT03197077 Phase 3 Corifollitropin Alfa;Follitropin beta;oral contraceptive pill pretreatment (Marvelon)
5 Mass Drug Administration of Ivermectin and Dihydroartemisinin-piperaquine as an Additional Intervention for Malaria Elimination Active, not recruiting NCT03576313 Phase 3 dihydroartemisinin-piperaquine (DP);ivermectin (IVM)
6 A Clinical Trial to Assess the Safety and Efficacy of Moxidectin Combination Treatments vs. Ivermectin Combination Treatments for Bancroftian Filariasis Enrolling by invitation NCT04410406 Phase 3 Ivermectin;Diethylcarbamazine;Albendazole;Moxidectin
7 Evaluate Triple-Drug Therapy With Diethylcarbamize (DEC), Albendazole (ALB) and Ivermectin (IVM) That Could Accelerate LF Elimination Outside of Africa Completed NCT01975441 Phase 2 Diethylcarbamazine;Albendazole;Ivermectin
8 A Pilot, Proof of Concept Trial to Prove Ivermectin Efficacy in the Reduction of SARS-CoV-2 Replication at Early Stages of COVID-19 Completed NCT04381884 Phase 2 IVERMECTIN (IVER P®) arm will receive IVM 600 µg / kg once daily plus standard care. CONTROL arm will receive standard care.
9 Safety and Efficacy of Combination Therapy With Ivermectin, Diethylcarbamazine, and Albendazole (IDA) for Individuals With Onchocerciasis Enrolling by invitation NCT04188301 Phase 2 IVM w/ ALB;Single dose of IDA;Three daily doses of IDA
10 Bioavailability and Safety of Two Oral Fixed Dose Preparations Containing 18 mg Ivermectin (IVM 18 MG TABLETS, LICONSA S.A., Spain) Versus Reference Dosing (Weight Based) Containing 6 mg Ivermectin (REVECTINA, Abbott Laboratórios do Brasil Ltda, Brazil) Completed NCT03173742 Phase 1 T1, T2, T3;T1,T3,T2;T2,T1,T3;T2,T3,T1;T3,T1,T2;T3,T2,T1
11 Open-Label Study to Evaluate Safety, Tolerability, Potential Pharmacokinetic Interactions and Mosquito-Lethal Effects of Orally Administered Ivermectin, Primaquine, Dihydroartemisinin-Piperaquine, and Albendazole in Healthy Adult Subjects Completed NCT02568098 Phase 1 IVM, IVM and PQ, IVM and DHA-PQP, IVM and DHA-PQP and PQ;PQ and DHA-PQP and PQ;DHA-PQP
12 Pharmacokinetics, Pharmacodynamics, Safety and Tolerability of Single Dose Treatment With Diethylcarbamazine, Albendazole and Ivermectin in Humans With and Without Wuchereria Bancrofti Infection in Côte d'Ivoire Completed NCT02845713 Phase 1 Ivermectin, Diethylcarbamazine Albendazole (IDA)
13 Influence of a Prematuration Culture With a PDE3-I on Embryonic Aneuploidy Rate and Developmental Potential Terminated NCT00823420 Phase 1
14 Influence of a Prematuration Culture With a PDE3-I on Embryonic Aneuploidy Rate and Developmental Potential - a Pilot Study Terminated NCT00822874 Phase 1
15 Methods for Fertility Preservation: Impact of Vitrification on in Vitro Matured Oocytes Unknown status NCT03680937
16 Characterization of a Method of Fertility Preservation for Patients Diagnosed for a Cancer Unknown status NCT03416400
17 Effect of the CAPA Culture Step on Meiotic and Developmental Competence of Human Oocytes After Using Two (Previously Used) Meiotic Maturation Triggers in a SIBLING Oocyte Study Design Completed NCT03915054 AREG-IVM medium;STD medium
18 Research Study to Evaluate Capacitation Culture (CAPA) Followed by in Vitro Maturation (IVM) of Human Oocytes: A Randomized Pilot Study Completed NCT03921710 CAPA-IVM;Standard-IVM
19 In Vitro Maturation for Polycystic Ovary Syndrome (PCOS)- A Pilot Study Completed NCT01237106
20 Follow-up of Children Born From CAPA-IVM IVF or Natural Conception: a Prospective Cohort Study Completed NCT04048486
21 Intravital Microscopy (IVM) During Sentinel Lymph Node (SLN) Biopsy for Melanoma Completed NCT02857374 Fluorescein Sodium Injection
22 In-Vitro Maturation of Oocytes From Polycystic Ovarian Patients Undergoing IVF Completed NCT00561808
23 Study for Obtaining Mature Oocytes by in Vitro Maturation in Oocyte-donor Women Completed NCT03998553
24 The Effectiveness and Safety of in Vitro Maturation of Oocytes Versus in Vitro Fertilization in Women With High Antral Follicle Count (AFC): a Randomised Controlled Trial Completed NCT03405701
25 Trial Investigating the Developmental Potential of Embryos Obtained After Biphasic in Vitro Oocyte Maturation (IVM) of Oocytes Including a Pre Maturation Culture Step ('Capacitation Step') Compared With Standard IVM. Recruiting NCT04285892
26 Effect of Single vs. Group CAPA-IVM Culture of Human Cumulus-oocyte Complexes From Small Antral Follicles in a SIBLING Oocyte Study Design Recruiting NCT04562883
27 Intravital Microscopy (IVM) in Human Solid Tumors Recruiting NCT03823144
28 In Vitro Maturation (IVM) of Human Oocytes Recruiting NCT01550861
29 Conventional Ovarian Stimulation vs. in Vitro Oocyte Maturation (IVM) Followed by in Vitro Fertilisation (IVF): Differences in Patients' Emotional Adjustment and Quality of Life Recruiting NCT03066349
30 A Prospective Series of IVF Cases Utilizing in Vitro Maturation (IVM) With Low Cost Priming, Enhanced Oocyte Recovery, and Delayed Embryo Transfer Using a Subsequent Frozen Embryo Transfer Cycle Recruiting NCT04149496
31 IVM Treatment in Patients With Low Ovarian Response. Does it Improve IVF Outcome or May it Cause Activation of Ovarian Follicles and Increase the Chances of Success in the Following IVF Cycle? Recruiting NCT02498210
32 Outcomes of Fresh Transfer Versus Freeze-only After CAPA IVM on PCOS Patients Recruiting NCT04297553
33 Intravital Microscopy (IVM) in Patients With Peritoneal Carcinomatosis (PC) Active, not recruiting NCT03517852
34 In Vitro Maturation Versus Standard in Vitro Fertilization in Infertile Patients Diagnosed With Polycystic Ovaries Syndrome: a Study Protocol for a Single-center Prospective, Randomized Controlled Clinical Trial Active, not recruiting NCT03463772 In vitro maturation
35 Survey of Fertility Specialists' Knowledge of, Experience With, and Attitudes Toward the Use of in Vitro Maturation of Oocytes in Reproductive Medicine Enrolling by invitation NCT04488211
36 In Vitro Maturation (IVM) of Human Oocytes Withdrawn NCT01843569
37 A Comparison of Cost - Effectiveness of Stimulated ICSI and IVM Strategy in PCOS Women Withdrawn NCT03005275

Search NIH Clinical Center for Immunodeficiency 23

Genetic Tests for Immunodeficiency 23

Genetic tests related to Immunodeficiency 23:

# Genetic test Affiliating Genes
1 Immunodeficiency 23 29 PGM3

Anatomical Context for Immunodeficiency 23

MalaCards organs/tissues related to Immunodeficiency 23:

40
T Cells, B Cells, Neutrophil, Bone Marrow, Bone, Ovary, Lymph Node

Publications for Immunodeficiency 23

Articles related to Immunodeficiency 23:

# Title Authors PMID Year
1
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene. 6 57
26482871 2015
2
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. 6 57
24931394 2014
3
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. 6 57
24698316 2014
4
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. 6 57
24589341 2014
5
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment. 6 57
14981714 2004
6
[Familial form of the Buckley syndrome with anomalies of cellular immunity]. 6 57
3500672 1987
7
Recurrent bacterial infections in four siblings with neutropenia, eosinophilia, hyperimmunoglobulinemia A, and defective neutrophil chemotaxis. 6 57
1245758 1976
8
Subsequent neoplasms and late mortality in children undergoing allogeneic transplantation for nonmalignant diseases. 61
32396620 2020
9
The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives. 61
27634199 2017
10
[Primary non-Hodgkin's lymphoma of the brain]. 61
9889638 1998

Variations for Immunodeficiency 23

ClinVar genetic disease variations for Immunodeficiency 23:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PGM3 NM_015599.3(PGM3):c.715G>C (p.Asp239His) SNV Pathogenic 224830 rs869312886 6:83891527-83891527 6:83181808-83181808
2 PGM3 NM_015599.3(PGM3):c.891T>G (p.Asp297Glu) SNV Pathogenic 133318 rs587777415 6:83889583-83889583 6:83179864-83179864
3 PGM3 NM_015599.3(PGM3):c.1020_1022del (p.Glu340_Val341delinsAsp) Deletion Pathogenic 133319 rs587777416 6:83888399-83888401 6:83178680-83178682
4 PGM3 NM_015599.3(PGM3):c.248T>C (p.Leu83Ser) SNV Pathogenic 133320 rs267608260 6:83898474-83898474 6:83188755-83188755
5 PGM3 NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) SNV Pathogenic 140732 rs587777562 6:83891505-83891505 6:83181786-83181786
6 PGM3 NM_015599.3(PGM3):c.1352A>G (p.Gln451Arg) SNV Pathogenic 140735 rs587777565 6:83881669-83881669 6:83171950-83171950
7 PGM3 NM_015599.3(PGM3):c.1354_1358del (p.Leu452fs) Deletion Pathogenic 133317 rs587777414 6:83881663-83881667 6:83171944-83171948
8 PGM3 NM_015599.3(PGM3):c.520C>T (p.Arg174Ter) SNV Pathogenic 541844 rs762678772 6:83892635-83892635 6:83182916-83182916
9 PGM3 NM_015599.3(PGM3):c.737dup (p.Asn246fs) Duplication Pathogenic 140734 rs587777564 6:83891504-83891505 6:83181785-83181786
10 PGM3 NM_015599.3(PGM3):c.369dup (p.Val124fs) Duplication Pathogenic 940194 6:83898352-83898353 6:83188633-83188634
11 DOP1A NM_015599.3(PGM3):c.1501G>C (p.Glu501Gln) SNV Pathogenic 133316 rs587777413 6:83880062-83880062 6:83170343-83170343
12 DOP1A NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr) SNV Pathogenic 133321 rs267608261 6:83880059-83880059 6:83170340-83170340
13 DOP1A Deletion Pathogenic 224831 6:83013454-84395825
14 DOP1A NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) SNV Pathogenic/Likely pathogenic 505650 rs144104577 6:83880089-83880089 6:83170370-83170370
15 PGM3 NM_015599.3(PGM3):c.788-2A>G SNV Likely pathogenic 958912 6:83889688-83889688 6:83179969-83179969
16 PGM3 NM_015599.3(PGM3):c.521G>T (p.Arg174Leu) SNV Conflicting interpretations of pathogenicity 475003 rs73749732 6:83892634-83892634 6:83182915-83182915
17 PGM3 NM_015599.3(PGM3):c.325A>T (p.Ile109Phe) SNV Uncertain significance 541843 rs140499200 6:83898397-83898397 6:83188678-83188678
18 PGM3 NM_015599.3(PGM3):c.389+3G>A SNV Uncertain significance 475002 rs201392846 6:83898330-83898330 6:83188611-83188611
19 PGM3 NM_015599.3(PGM3):c.-2-226T>C SNV Uncertain significance 541846 rs373825865 6:83900959-83900959 6:83191240-83191240
20 PGM3 NM_015599.3(PGM3):c.-2-209C>A SNV Uncertain significance 625989 rs1438440008 6:83900942-83900942 6:83191223-83191223
21 PGM3 NM_015599.3(PGM3):c.1166A>G (p.Gln389Arg) SNV Uncertain significance 834332 6:83884169-83884169 6:83174450-83174450
22 PGM3 NM_015599.3(PGM3):c.38A>G (p.His13Arg) SNV Uncertain significance 841584 6:83900694-83900694 6:83190975-83190975
23 PGM3 NM_015599.3(PGM3):c.-2-3T>C SNV Uncertain significance 847200 6:83900736-83900736 6:83191017-83191017
24 PGM3 NM_015599.3(PGM3):c.1020A>C (p.Glu340Asp) SNV Uncertain significance 848985 6:83888401-83888401 6:83178682-83178682
25 PGM3 NM_015599.3(PGM3):c.1243-14_1243-3del Deletion Uncertain significance 855315 6:83881781-83881792 6:83172062-83172073
26 PGM3 NM_015599.3(PGM3):c.60C>G (p.Ile20Met) SNV Uncertain significance 858953 6:83900672-83900672 6:83190953-83190953
27 PGM3 NM_015599.3(PGM3):c.335A>G (p.Lys112Arg) SNV Uncertain significance 861673 6:83898387-83898387 6:83188668-83188668
28 PGM3 NM_015599.3(PGM3):c.566A>G (p.Lys189Arg) SNV Uncertain significance 626147 rs1251637218 6:83892589-83892589 6:83182870-83182870
29 PGM3 NM_015599.3(PGM3):c.219A>G (p.Val73=) SNV Uncertain significance 626148 rs752657453 6:83898503-83898503 6:83188784-83188784
30 PGM3 NM_015599.3(PGM3):c.1327C>T (p.Leu443Phe) SNV Uncertain significance 640594 rs141509908 6:83881694-83881694 6:83171975-83171975
31 PGM3 NM_015599.3(PGM3):c.389+4A>G SNV Uncertain significance 647194 rs994978040 6:83898329-83898329 6:83188610-83188610
32 PGM3 NM_015599.3(PGM3):c.-2-166C>G SNV Uncertain significance 649678 rs755174589 6:83900899-83900899 6:83191180-83191180
33 PGM3 NM_015599.3(PGM3):c.1135T>C (p.Phe379Leu) SNV Uncertain significance 655964 rs774568856 6:83884200-83884200 6:83174481-83174481
34 PGM3 NM_015599.3(PGM3):c.847G>A (p.Val283Ile) SNV Uncertain significance 656480 rs1339891026 6:83889627-83889627 6:83179908-83179908
35 PGM3 NM_015599.3(PGM3):c.-2-208A>G SNV Uncertain significance 662797 rs1162624008 6:83900941-83900941 6:83191222-83191222
36 PGM3 NM_015599.3(PGM3):c.181G>T (p.Val61Leu) SNV Uncertain significance 664798 rs1583298383 6:83900551-83900551 6:83190832-83190832
37 PGM3 NM_015599.3(PGM3):c.450A>G (p.Gln150=) SNV Uncertain significance 665610 rs755097152 6:83896734-83896734 6:83187015-83187015
38 PGM3 NM_015599.3(PGM3):c.1268T>C (p.Met423Thr) SNV Uncertain significance 475000 rs1554257039 6:83881753-83881753 6:83172034-83172034
39 PGM3 NM_015599.3(PGM3):c.788G>C (p.Gly263Ala) SNV Uncertain significance 959537 6:83889686-83889686 6:83179967-83179967
40 PGM3 NM_015599.3(PGM3):c.1003A>G (p.Thr335Ala) SNV Uncertain significance 966420 6:83888418-83888418 6:83178699-83178699
41 PGM3 NM_015599.3(PGM3):c.94G>C (p.Ala32Pro) SNV Uncertain significance 969016 6:83900638-83900638 6:83190919-83190919
42 PGM3 NM_015599.3(PGM3):c.1204G>A (p.Ala402Thr) SNV Uncertain significance 970682 6:83884131-83884131 6:83174412-83174412
43 PGM3 NM_015599.3(PGM3):c.1327C>G (p.Leu443Val) SNV Uncertain significance 541845 rs141509908 6:83881694-83881694 6:83171975-83171975
44 PGM3 NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile) SNV Uncertain significance 445475 rs201593125 6:83881667-83881667 6:83171948-83171948
45 PGM3 NM_015599.3(PGM3):c.1268T>G (p.Met423Arg) SNV Uncertain significance 578266 rs1554257039 6:83881753-83881753 6:83172034-83172034
46 PGM3 NM_015599.3(PGM3):c.618A>C (p.Arg206Ser) SNV Uncertain significance 659212 rs148817553 6:83891624-83891624 6:83181905-83181905
47 PGM3 NM_015599.3(PGM3):c.1314A>G (p.Gln438=) SNV Uncertain significance 934292 6:83881707-83881707 6:83171988-83171988
48 PGM3 NM_015599.3(PGM3):c.1030-10T>A SNV Uncertain significance 934895 6:83885789-83885789 6:83176070-83176070
49 PGM3 NM_015599.3(PGM3):c.404A>G (p.Lys135Arg) SNV Uncertain significance 937051 6:83896780-83896780 6:83187061-83187061
50 PGM3 NM_015599.3(PGM3):c.506G>A (p.Arg169Gln) SNV Uncertain significance 940724 6:83892649-83892649 6:83182930-83182930

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 23:

73
# Symbol AA change Variation ID SNP ID
1 PGM3 p.Leu83Ser VAR_071359 rs267608260
2 PGM3 p.Asp239His VAR_071360 rs869312886
3 PGM3 p.Asn246Ser VAR_071361 rs587777562
4 PGM3 p.Asp297Glu VAR_071362 rs587777415
5 PGM3 p.Gln451Arg VAR_071364 rs587777565
6 PGM3 p.Glu501Gln VAR_071365 rs587777413
7 PGM3 p.Asp502Tyr VAR_071366 rs267608261

Expression for Immunodeficiency 23

Search GEO for disease gene expression data for Immunodeficiency 23.

Pathways for Immunodeficiency 23

Pathways related to Immunodeficiency 23 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 SLC35C1 PGM3 NANS MOGS GNE ALG14
2
Show member pathways
12.44 SLC35C1 PGM3 NANS MOGS GNE ALG14
3
Show member pathways
11.46 MOGS ALG14 ALG12 ALG11
4
Show member pathways
11.46 SLC35C1 PGM3 NANS GNE ALG14 ALG12
5
Show member pathways
11.38 PGM3 NANS GNE

GO Terms for Immunodeficiency 23

Biological processes related to Immunodeficiency 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate transport GO:0008643 9.32 SLC35C1 SLC35A3
2 mannosylation GO:0097502 9.26 ALG12 ALG11
3 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.16 ALG14 ALG12
4 UDP-N-acetylglucosamine metabolic process GO:0006047 8.96 SLC35A3 GNE
5 protein N-linked glycosylation GO:0006487 8.92 PGM3 MOGS ALG12 ALG11

Sources for Immunodeficiency 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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