IMD23
MCID: IMM080
MIFTS: 31

Immunodeficiency 23 (IMD23)

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

Aliases & Classifications for Immunodeficiency 23

MalaCards integrated aliases for Immunodeficiency 23:

Name: Immunodeficiency 23 58 76 30 6 74
Immunodeficiency with Hyper Ige and Cognitive Impairment 58 76
Immunodeficiency-Vasculitis-Myoclonus Syndrome 58 76
Imd23 58 76
Ivms 58 76
Immunodeficiency-Vasculitis-Myoclonus Syndrome; Ivms 58
Pgm3-Related Congenital Disorder of Glycosylation 60
Combined Immunodeficiency Due to Pgm3 Deficiency 60
Cid Due to Pgm3 Deficiency 60
Immunodeficiency, Type 23 41
Pgm3-Cdg 60

Characteristics:

Orphanet epidemiological data:

60
pgm3-cdg
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
immunodeficiency 23:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency 23

OMIM : 58 IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood. Laboratory studies are notable for increased serum IgE. Affected individuals also show developmental delay or cognitive impairment of varying severity (summary by Zhang et al., 2014). (615816)

MalaCards based summary : Immunodeficiency 23, also known as immunodeficiency with hyper ige and cognitive impairment, is related to pgm3-cdg and polycystic ovary syndrome, and has symptoms including ataxia An important gene associated with Immunodeficiency 23 is PGM3 (Phosphoglucomutase 3). Affiliated tissues include skin, t cells and b cells, and related phenotypes are hemolytic anemia and membranoproliferative glomerulonephritis

UniProtKB/Swiss-Prot : 76 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

Diseases related to Immunodeficiency 23 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pgm3-cdg 11.3
2 polycystic ovary syndrome 10.2
3 spermatogenic failure 6 10.1
4 blood group, gerbich system 10.1
5 diarrhea 10.1

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:

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 33 occasional (7.5%) HP:0001878
2 membranoproliferative glomerulonephritis 33 occasional (7.5%) HP:0000793
3 high palate 33 HP:0000218
4 intellectual disability 33 HP:0001249
5 ataxia 33 HP:0001251
6 dysarthria 33 HP:0001260
7 scoliosis 33 HP:0002650
8 global developmental delay 33 HP:0001263
9 recurrent respiratory infections 33 HP:0002205
10 sensorineural hearing impairment 33 HP:0000407
11 cognitive impairment 33 HP:0100543
12 immunodeficiency 33 HP:0002721
13 lymphopenia 33 HP:0001888
14 conductive hearing impairment 33 HP:0000405
15 asthma 33 HP:0002099
16 erythema 33 HP:0010783
17 neutropenia 33 HP:0001875
18 eczema 33 HP:0000964
19 hyporeflexia 33 HP:0001265
20 generalized hypotonia 33 HP:0001290
21 bronchiectasis 33 HP:0002110
22 sensory impairment 33 HP:0003474
23 allergic rhinitis 33 HP:0003193
24 vasculitis in the skin 33 HP:0200029
25 cortical myoclonus 33 HP:0040148

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
cortical myoclonus
delayed development
more
Respiratory:
recurrent respiratory infections
asthma

Respiratory Lung:
bronchiectasis

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 cd8+ t cells
increased susceptibility to infections (bacterial, fungal, and viral)
more
Neurologic Peripheral Nervous System:
sensory impairment
ankle hyporeflexia

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

UMLS symptoms related to Immunodeficiency 23:


ataxia

Drugs & Therapeutics for Immunodeficiency 23

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 23

Genetic Tests for Immunodeficiency 23

Genetic tests related to Immunodeficiency 23:

# Genetic test Affiliating Genes
1 Immunodeficiency 23 30 PGM3

Anatomical Context for Immunodeficiency 23

MalaCards organs/tissues related to Immunodeficiency 23:

42
Skin, T Cells, B Cells, Ovary

Publications for Immunodeficiency 23

Articles related to Immunodeficiency 23:

# Title Authors Year
1
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. ( 24589341 )
2014
2
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. ( 24931394 )
2014
3
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. ( 24698316 )
2014
4
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment. ( 14981714 )
2004
5
[Familial form of the Buckley syndrome with anomalies of cellular immunity]. ( 3500672 )
1987

Variations for Immunodeficiency 23

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

76
# 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

ClinVar genetic disease variations for Immunodeficiency 23:

6 (show top 50) (show all 63)
# Gene Variation Type Significance SNP ID Assembly Location
1 PGM3 NM_015599.3(PGM3): c.1501G> C (p.Glu501Gln) single nucleotide variant Pathogenic rs587777413 GRCh37 Chromosome 6, 83880062: 83880062
2 PGM3 NM_015599.3(PGM3): c.1501G> C (p.Glu501Gln) single nucleotide variant Pathogenic rs587777413 GRCh38 Chromosome 6, 83170343: 83170343
3 PGM3 NM_001199917.1(PGM3): c.1438_1442delCTTAA (p.Leu480Serfs) deletion Pathogenic rs587777414 GRCh37 Chromosome 6, 83881663: 83881667
4 PGM3 NM_001199917.1(PGM3): c.1438_1442delCTTAA (p.Leu480Serfs) deletion Pathogenic rs587777414 GRCh38 Chromosome 6, 83171944: 83171948
5 PGM3 NM_015599.3(PGM3): c.891T> G (p.Asp297Glu) single nucleotide variant Pathogenic rs587777415 GRCh37 Chromosome 6, 83889583: 83889583
6 PGM3 NM_015599.3(PGM3): c.891T> G (p.Asp297Glu) single nucleotide variant Pathogenic rs587777415 GRCh38 Chromosome 6, 83179864: 83179864
7 PGM3 NM_015599.2(PGM3): c.1020_1022delAGT (p.Glu340_Val341delinsAsp) deletion Pathogenic rs587777416 GRCh37 Chromosome 6, 83888399: 83888401
8 PGM3 NM_015599.2(PGM3): c.1020_1022delAGT (p.Glu340_Val341delinsAsp) deletion Pathogenic rs587777416 GRCh38 Chromosome 6, 83178680: 83178682
9 PGM3 NM_015599.3(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh37 Chromosome 6, 83898474: 83898474
10 PGM3 NM_015599.3(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh38 Chromosome 6, 83188755: 83188755
11 PGM3 NM_015599.3(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh37 Chromosome 6, 83880059: 83880059
12 PGM3 NM_015599.3(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh38 Chromosome 6, 83170340: 83170340
13 PGM3 NM_015599.3(PGM3): c.737A> G (p.Asn246Ser) single nucleotide variant Pathogenic rs587777562 GRCh37 Chromosome 6, 83891505: 83891505
14 PGM3 NM_015599.3(PGM3): c.737A> G (p.Asn246Ser) single nucleotide variant Pathogenic rs587777562 GRCh38 Chromosome 6, 83181786: 83181786
15 PGM3 NM_015599.3(PGM3): c.737dup (p.Asn246Lysfs) duplication Pathogenic rs587777564 GRCh37 Chromosome 6, 83891505: 83891505
16 PGM3 NM_015599.3(PGM3): c.737dup (p.Asn246Lysfs) duplication Pathogenic rs587777564 GRCh38 Chromosome 6, 83181786: 83181786
17 PGM3 NM_015599.3(PGM3): c.1352A> G (p.Gln451Arg) single nucleotide variant Pathogenic rs587777565 GRCh37 Chromosome 6, 83881669: 83881669
18 PGM3 NM_015599.3(PGM3): c.1352A> G (p.Gln451Arg) single nucleotide variant Pathogenic rs587777565 GRCh38 Chromosome 6, 83171950: 83171950
19 PGM3 NM_015599.3(PGM3): c.715G> C (p.Asp239His) single nucleotide variant Pathogenic rs869312886 GRCh38 Chromosome 6, 83181808: 83181808
20 PGM3 NM_015599.3(PGM3): c.715G> C (p.Asp239His) single nucleotide variant Pathogenic rs869312886 GRCh37 Chromosome 6, 83891527: 83891527
21 PGM3 NC_000006.11 deletion Pathogenic GRCh37 Chromosome 6, 83013454: 84395825
22 PGM3 NM_001199917.1(PGM3): c.1049T> C (p.Ile350Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs745508510 GRCh38 Chromosome 6, 83178737: 83178737
23 PGM3 NM_001199917.1(PGM3): c.1049T> C (p.Ile350Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs745508510 GRCh37 Chromosome 6, 83888456: 83888456
24 PGM3 NM_001199917.1(PGM3): c.1438C> A (p.Leu480Ile) single nucleotide variant Uncertain significance rs201593125 GRCh37 Chromosome 6, 83881667: 83881667
25 PGM3 NM_001199917.1(PGM3): c.1438C> A (p.Leu480Ile) single nucleotide variant Uncertain significance rs201593125 GRCh38 Chromosome 6, 83171948: 83171948
26 PGM3 NM_001199917.1(PGM3): c.1352T> C (p.Met451Thr) single nucleotide variant Uncertain significance rs1554257039 GRCh38 Chromosome 6, 83172034: 83172034
27 PGM3 NM_001199917.1(PGM3): c.1352T> C (p.Met451Thr) single nucleotide variant Uncertain significance rs1554257039 GRCh37 Chromosome 6, 83881753: 83881753
28 PGM3 NM_001199917.1(PGM3): c.605G> T (p.Arg202Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs73749732 GRCh37 Chromosome 6, 83892634: 83892634
29 PGM3 NM_001199917.1(PGM3): c.605G> T (p.Arg202Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs73749732 GRCh38 Chromosome 6, 83182915: 83182915
30 PGM3 NM_001199917.1(PGM3): c.473+3G> A single nucleotide variant Uncertain significance rs201392846 GRCh37 Chromosome 6, 83898330: 83898330
31 PGM3 NM_001199917.1(PGM3): c.473+3G> A single nucleotide variant Uncertain significance rs201392846 GRCh38 Chromosome 6, 83188611: 83188611
32 PGM3 NM_001199917.1(PGM3): c.117A> G (p.Ala39=) single nucleotide variant Benign rs150763574 GRCh38 Chromosome 6, 83190980: 83190980
33 PGM3 NM_001199917.1(PGM3): c.117A> G (p.Ala39=) single nucleotide variant Benign rs150763574 GRCh37 Chromosome 6, 83900699: 83900699
34 PGM3 NM_001199917.1(PGM3): c.65T> A (p.Val22Asp) single nucleotide variant Benign rs73749738 GRCh37 Chromosome 6, 83900923: 83900923
35 PGM3 NM_001199917.1(PGM3): c.65T> A (p.Val22Asp) single nucleotide variant Benign rs73749738 GRCh38 Chromosome 6, 83191204: 83191204
36 PGM3 NM_001199917.1(PGM3): c.1548C> T (p.Tyr516=) single nucleotide variant Benign rs34873318 GRCh37 Chromosome 6, 83880099: 83880099
37 PGM3 NM_001199917.1(PGM3): c.1548C> T (p.Tyr516=) single nucleotide variant Benign rs34873318 GRCh38 Chromosome 6, 83170380: 83170380
38 PGM3 NM_001199917.1(PGM3): c.1558C> T (p.Arg520Ter) single nucleotide variant Likely pathogenic rs144104577 GRCh37 Chromosome 6, 83880089: 83880089
39 PGM3 NM_001199917.1(PGM3): c.1558C> T (p.Arg520Ter) single nucleotide variant Likely pathogenic rs144104577 GRCh38 Chromosome 6, 83170370: 83170370
40 PGM3 NM_001199917.1(PGM3): c.1258G> C (p.Glu420Gln) single nucleotide variant Likely benign rs149679266 GRCh38 Chromosome 6, 83174442: 83174442
41 PGM3 NM_001199917.1(PGM3): c.1258G> C (p.Glu420Gln) single nucleotide variant Likely benign rs149679266 GRCh37 Chromosome 6, 83884161: 83884161
42 PGM3 NM_001199917.1(PGM3): c.409A> T (p.Ile137Phe) single nucleotide variant Uncertain significance rs140499200 GRCh37 Chromosome 6, 83898397: 83898397
43 PGM3 NM_001199917.1(PGM3): c.409A> T (p.Ile137Phe) single nucleotide variant Uncertain significance rs140499200 GRCh38 Chromosome 6, 83188678: 83188678
44 PGM3 NM_001199917.1(PGM3): c.871+7C> T single nucleotide variant Likely benign rs376979392 GRCh38 Chromosome 6, 83181729: 83181729
45 PGM3 NM_001199917.1(PGM3): c.871+7C> T single nucleotide variant Likely benign rs376979392 GRCh37 Chromosome 6, 83891448: 83891448
46 PGM3 NM_001199917.1(PGM3): c.604C> T (p.Arg202Ter) single nucleotide variant Pathogenic rs762678772 GRCh37 Chromosome 6, 83892635: 83892635
47 PGM3 NM_001199917.1(PGM3): c.604C> T (p.Arg202Ter) single nucleotide variant Pathogenic rs762678772 GRCh38 Chromosome 6, 83182916: 83182916
48 PGM3 NM_001199917.1(PGM3): c.29T> C (p.Ile10Thr) single nucleotide variant Uncertain significance rs373825865 GRCh37 Chromosome 6, 83900959: 83900959
49 PGM3 NM_001199917.1(PGM3): c.29T> C (p.Ile10Thr) single nucleotide variant Uncertain significance rs373825865 GRCh38 Chromosome 6, 83191240: 83191240
50 PGM3 NM_001199917.1(PGM3): c.1411C> G (p.Leu471Val) single nucleotide variant Uncertain significance rs141509908 GRCh38 Chromosome 6, 83171975: 83171975

Expression for Immunodeficiency 23

Search GEO for disease gene expression data for Immunodeficiency 23.

Pathways for Immunodeficiency 23

GO Terms for Immunodeficiency 23

Sources for Immunodeficiency 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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