MCID: IMM080
MIFTS: 28

Immunodeficiency 23

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

Aliases & Classifications for Immunodeficiency 23

MalaCards integrated aliases for Immunodeficiency 23:

Name: Immunodeficiency 23 57 75 29 6 73
Immunodeficiency with Hyper Ige and Cognitive Impairment 57 75
Immunodeficiency-Vasculitis-Myoclonus Syndrome 57 75
Imd23 57 75
Ivms 57 75
Immunodeficiency-Vasculitis-Myoclonus Syndrome; Ivms 57
Pgm3-Related Congenital Disorder of Glycosylation 59
Combined Immunodeficiency Due to Pgm3 Deficiency 59
Cid Due to Pgm3 Deficiency 59
Immunodeficiency, Type 23 40
Pgm3-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
pgm3-cdg
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency 23:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency 23

OMIM : 57 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 high palate and conductive hearing impairment

UniProtKB/Swiss-Prot : 75 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 11.2
2 polycystic ovary syndrome 10.1

Symptoms & Phenotypes for Immunodeficiency 23

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency 23:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 conductive hearing impairment 32 HP:0000405
3 sensorineural hearing impairment 32 HP:0000407
4 membranoproliferative glomerulonephritis 32 occasional (7.5%) HP:0000793
5 eczema 32 HP:0000964
6 intellectual disability 32 HP:0001249
7 ataxia 32 HP:0001251
8 dysarthria 32 HP:0001260
9 global developmental delay 32 HP:0001263
10 generalized hypotonia 32 HP:0001290
11 neutropenia 32 HP:0001875
12 hemolytic anemia 32 occasional (7.5%) HP:0001878
13 lymphopenia 32 HP:0001888
14 asthma 32 HP:0002099
15 bronchiectasis 32 HP:0002110
16 recurrent respiratory infections 32 HP:0002205
17 scoliosis 32 HP:0002650
18 immunodeficiency 32 HP:0002721
19 allergic rhinitis 32 HP:0003193
20 sensory impairment 32 HP:0003474
21 cortical myoclonus 32 HP:0040148
22 cognitive impairment 32 HP:0100543
23 vasculitis in the skin 32 HP:0200029

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 29 PGM3

Anatomical Context for Immunodeficiency 23

MalaCards organs/tissues related to Immunodeficiency 23:

41
Skin, T Cells, B Cells

Publications for Immunodeficiency 23

Variations for Immunodeficiency 23

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

75
# 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 all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 PGM3 NM_001199917.1(PGM3): c.1585G> C (p.Glu529Gln) single nucleotide variant Pathogenic rs587777413 GRCh37 Chromosome 6, 83880062: 83880062
2 PGM3 NM_001199917.1(PGM3): c.1585G> C (p.Glu529Gln) 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_001199917.1(PGM3): c.975T> G (p.Asp325Glu) single nucleotide variant Pathogenic rs587777415 GRCh37 Chromosome 6, 83889583: 83889583
6 PGM3 NM_001199917.1(PGM3): c.975T> G (p.Asp325Glu) single nucleotide variant Pathogenic rs587777415 GRCh38 Chromosome 6, 83179864: 83179864
7 PGM3 NM_001199917.1(PGM3): c.1104_1106delAGT (p.Glu368_Val369delinsAsp) deletion Pathogenic rs587777416 GRCh37 Chromosome 6, 83888399: 83888401
8 PGM3 NM_001199917.1(PGM3): c.1104_1106delAGT (p.Glu368_Val369delinsAsp) deletion Pathogenic rs587777416 GRCh38 Chromosome 6, 83178680: 83178682
9 PGM3 NM_015599.2(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh37 Chromosome 6, 83898474: 83898474
10 PGM3 NM_015599.2(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh38 Chromosome 6, 83188755: 83188755
11 PGM3 NM_015599.2(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh37 Chromosome 6, 83880059: 83880059
12 PGM3 NM_015599.2(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh38 Chromosome 6, 83170340: 83170340
13 PGM3 NM_015599.2(PGM3): c.737A> G (p.Asn246Ser) single nucleotide variant Pathogenic rs587777562 GRCh37 Chromosome 6, 83891505: 83891505
14 PGM3 NM_015599.2(PGM3): c.737A> G (p.Asn246Ser) single nucleotide variant Pathogenic rs587777562 GRCh38 Chromosome 6, 83181786: 83181786
15 PGM3 NM_015599.2(PGM3): c.737dupA (p.Asn246Lysfs) duplication Pathogenic rs587777564 GRCh37 Chromosome 6, 83891505: 83891505
16 PGM3 NM_015599.2(PGM3): c.737dupA (p.Asn246Lysfs) duplication Pathogenic rs587777564 GRCh38 Chromosome 6, 83181786: 83181786
17 PGM3 NM_015599.2(PGM3): c.1352A> G (p.Gln451Arg) single nucleotide variant Pathogenic rs587777565 GRCh37 Chromosome 6, 83881669: 83881669
18 PGM3 NM_015599.2(PGM3): c.1352A> G (p.Gln451Arg) single nucleotide variant Pathogenic rs587777565 GRCh38 Chromosome 6, 83171950: 83171950
19 PGM3 NM_001199917.1(PGM3): c.799G> C (p.Asp267His) single nucleotide variant Pathogenic rs869312886 GRCh38 Chromosome 6, 83181808: 83181808
20 PGM3 NM_001199917.1(PGM3): c.799G> C (p.Asp267His) 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.1352T> C (p.Met451Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 83172034: 83172034
25 PGM3 NM_001199917.1(PGM3): c.1352T> C (p.Met451Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 83881753: 83881753
26 PGM3 NM_001199917.1(PGM3): c.605G> T (p.Arg202Leu) single nucleotide variant Benign rs73749732 GRCh38 Chromosome 6, 83182915: 83182915
27 PGM3 NM_001199917.1(PGM3): c.605G> T (p.Arg202Leu) single nucleotide variant Benign rs73749732 GRCh37 Chromosome 6, 83892634: 83892634
28 PGM3 NM_001199917.1(PGM3): c.473+3G> A single nucleotide variant Uncertain significance rs201392846 GRCh37 Chromosome 6, 83898330: 83898330
29 PGM3 NM_001199917.1(PGM3): c.473+3G> A single nucleotide variant Uncertain significance rs201392846 GRCh38 Chromosome 6, 83188611: 83188611
30 PGM3 NM_001199917.1(PGM3): c.117A> G (p.Ala39=) single nucleotide variant Benign rs150763574 GRCh38 Chromosome 6, 83190980: 83190980
31 PGM3 NM_001199917.1(PGM3): c.117A> G (p.Ala39=) single nucleotide variant Benign rs150763574 GRCh37 Chromosome 6, 83900699: 83900699
32 PGM3 NM_001199917.1(PGM3): c.65T> A (p.Val22Asp) single nucleotide variant Benign rs73749738 GRCh37 Chromosome 6, 83900923: 83900923
33 PGM3 NM_001199917.1(PGM3): c.65T> A (p.Val22Asp) single nucleotide variant Benign rs73749738 GRCh38 Chromosome 6, 83191204: 83191204
34 PGM3 NM_001199917.1(PGM3): c.1548C> T (p.Tyr516=) single nucleotide variant Benign rs34873318 GRCh38 Chromosome 6, 83170380: 83170380
35 PGM3 NM_001199917.1(PGM3): c.1548C> T (p.Tyr516=) single nucleotide variant Benign rs34873318 GRCh37 Chromosome 6, 83880099: 83880099
36 PGM3 NM_001199917.1(PGM3): c.1558C> T (p.Arg520Ter) single nucleotide variant Likely pathogenic rs144104577 GRCh37 Chromosome 6, 83880089: 83880089
37 PGM3 NM_001199917.1(PGM3): c.1558C> T (p.Arg520Ter) single nucleotide variant Likely pathogenic rs144104577 GRCh38 Chromosome 6, 83170370: 83170370
38 PGM3 NM_001199917.1(PGM3): c.409A> T (p.Ile137Phe) single nucleotide variant Uncertain significance rs140499200 GRCh38 Chromosome 6, 83188678: 83188678
39 PGM3 NM_001199917.1(PGM3): c.1258G> C (p.Glu420Gln) single nucleotide variant Likely benign rs149679266 GRCh38 Chromosome 6, 83174442: 83174442
40 PGM3 NM_001199917.1(PGM3): c.1258G> C (p.Glu420Gln) single nucleotide variant Likely benign rs149679266 GRCh37 Chromosome 6, 83884161: 83884161
41 PGM3 NM_001199917.1(PGM3): c.409A> T (p.Ile137Phe) single nucleotide variant Uncertain significance rs140499200 GRCh37 Chromosome 6, 83898397: 83898397
42 PGM3 NM_001199917.1(PGM3): c.871+7C> T single nucleotide variant Likely benign rs376979392 GRCh37 Chromosome 6, 83891448: 83891448
43 PGM3 NM_001199917.1(PGM3): c.871+7C> T single nucleotide variant Likely benign rs376979392 GRCh38 Chromosome 6, 83181729: 83181729
44 PGM3 NM_001199917.1(PGM3): c.604C> T (p.Arg202Ter) single nucleotide variant Pathogenic rs762678772 GRCh38 Chromosome 6, 83182916: 83182916
45 PGM3 NM_001199917.1(PGM3): c.604C> T (p.Arg202Ter) single nucleotide variant Pathogenic rs762678772 GRCh37 Chromosome 6, 83892635: 83892635
46 PGM3 NM_001199917.1(PGM3): c.29T> C (p.Ile10Thr) single nucleotide variant Uncertain significance rs373825865 GRCh37 Chromosome 6, 83900959: 83900959
47 PGM3 NM_001199917.1(PGM3): c.29T> C (p.Ile10Thr) single nucleotide variant Uncertain significance rs373825865 GRCh38 Chromosome 6, 83191240: 83191240
48 PGM3 NM_001199917.1(PGM3): c.1411C> G (p.Leu471Val) single nucleotide variant Uncertain significance rs141509908 GRCh38 Chromosome 6, 83171975: 83171975
49 PGM3 NM_001199917.1(PGM3): c.1411C> G (p.Leu471Val) single nucleotide variant Uncertain significance rs141509908 GRCh37 Chromosome 6, 83881694: 83881694

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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