IMD23
MCID: IMM080
MIFTS: 36

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 57 74 29 6 72
Immunodeficiency with Hyper Ige and Cognitive Impairment 57 74
Immunodeficiency-Vasculitis-Myoclonus Syndrome 57 74
Imd23 57 74
Ivms 57 74
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:



External Ids:

MeSH 44 D007153
ICD10 via Orphanet 34 E77.8
Orphanet 59 ORPHA443811
UMLS 72 C4014371

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). The drugs Morphine and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and b cells, and related phenotypes are hemolytic anemia and membranoproliferative glomerulonephritis

UniProtKB/Swiss-Prot : 74 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:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 pgm3-cdg 11.5
2 polycystic ovary syndrome 10.8
3 ovarian hyperstimulation syndrome 10.5
4 infertility 10.4
5 48,xyyy 10.3
6 spermatogenic failure 6 10.1
7 insulin-like growth factor i 10.1
8 gastric cancer 10.1
9 spermatogenic failure 9 10.1
10 immunodeficiency, common variable, 10 10.1
11 filariasis 10.1
12 arteriovenous malformation 10.1
13 dengue disease 10.1
14 diarrhea 10.1
15 dentinogenesis imperfecta type 2 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:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 32 occasional (7.5%) HP:0001878
2 membranoproliferative glomerulonephritis 32 occasional (7.5%) HP:0000793
3 high palate 32 HP:0000218
4 intellectual disability 32 HP:0001249
5 ataxia 32 HP:0001251
6 dysarthria 32 HP:0001260
7 scoliosis 32 HP:0002650
8 global developmental delay 32 HP:0001263
9 recurrent respiratory infections 32 HP:0002205
10 sensorineural hearing impairment 32 HP:0000407
11 cognitive impairment 32 HP:0100543
12 immunodeficiency 32 HP:0002721
13 generalized hypotonia 32 HP:0001290
14 erythema 32 HP:0010783
15 lymphopenia 32 HP:0001888
16 conductive hearing impairment 32 HP:0000405
17 asthma 32 HP:0002099
18 neutropenia 32 HP:0001875
19 eczema 32 HP:0000964
20 hyporeflexia 32 HP:0001265
21 bronchiectasis 32 HP:0002110
22 sensory impairment 32 HP:0003474
23 allergic rhinitis 32 HP:0003193
24 vasculitis in the skin 32 HP:0200029
25 cortical myoclonus 32 HP:0040148

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

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 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Morphine Approved, Investigational Phase 4 57-27-2 5288826
2 Analgesics Phase 4
3 Narcotics Phase 4
4 Peripheral Nervous System Agents Phase 4
5 Analgesics, Opioid Phase 4
6 Central Nervous System Depressants Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ultrasound Guided Femoral (3 in 1) Nerve Block Versus Ultrasound Guided Fascia Iliacus Compartment Block Versus Standard Treatment for Pain Control in Patients With Hip Fractures in the Emergency Department Completed NCT01904071 Phase 4 IVMS (IV Morphine)

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:

41
Skin, T Cells, B Cells, Brain

Publications for Immunodeficiency 23

Articles related to Immunodeficiency 23:

# Title Authors PMID Year
1
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. 8 71
24931394 2014
2
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. 8 71
24698316 2014
3
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. 8 71
24589341 2014
4
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment. 8 71
14981714 2004
5
[Familial form of the Buckley syndrome with anomalies of cellular immunity]. 8 71
3500672 1987
6
The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives. 38
27634199 2017
7
[Primary non-Hodgkin's lymphoma of the brain]. 38
9889638 1998

Variations for Immunodeficiency 23

ClinVar genetic disease variations for Immunodeficiency 23:

6 (show all 43)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PGM3 NM_015599.3(PGM3): c.520C> T (p.Arg174Ter) single nucleotide variant Pathogenic rs762678772 6:83892635-83892635 6:83182916-83182916
2 PGM3 NM_015599.3(PGM3): c.1501G> C (p.Glu501Gln) single nucleotide variant Pathogenic rs587777413 6:83880062-83880062 6:83170343-83170343
3 PGM3 NM_015599.3(PGM3): c.1354_1358del (p.Leu452fs) deletion Pathogenic rs587777414 6:83881663-83881667 6:83171944-83171948
4 PGM3 NM_015599.3(PGM3): c.891T> G (p.Asp297Glu) single nucleotide variant Pathogenic rs587777415 6:83889583-83889583 6:83179864-83179864
5 PGM3 NM_015599.3(PGM3): c.1020_1022del (p.Glu340_Val341delinsAsp) deletion Pathogenic rs587777416 6:83888399-83888401 6:83178680-83178682
6 PGM3 NM_015599.3(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 6:83898474-83898474 6:83188755-83188755
7 PGM3 NM_015599.3(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 6:83880059-83880059 6:83170340-83170340
8 PGM3 NM_015599.3(PGM3): c.737A> G (p.Asn246Ser) single nucleotide variant Pathogenic rs587777562 6:83891505-83891505 6:83181786-83181786
9 PGM3 NM_015599.3(PGM3): c.737dup (p.Asn246fs) duplication Pathogenic rs587777564 6:83891505-83891505 6:83181786-83181786
10 PGM3 NM_015599.3(PGM3): c.1352A> G (p.Gln451Arg) single nucleotide variant Pathogenic rs587777565 6:83881669-83881669 6:83171950-83171950
11 PGM3 NM_015599.3(PGM3): c.715G> C (p.Asp239His) single nucleotide variant Pathogenic rs869312886 6:83891527-83891527 6:83181808-83181808
12 PGM3 deletion Pathogenic 6:83013454-84395825 :0-0
13 PGM3 NM_015599.3(PGM3): c.1474C> T (p.Arg492Ter) single nucleotide variant Pathogenic/Likely pathogenic rs144104577 6:83880089-83880089 6:83170370-83170370
14 PGM3 NM_015599.3(PGM3): c.965T> C (p.Ile322Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs745508510 6:83888456-83888456 6:83178737-83178737
15 PGM3 NM_015599.3(PGM3): c.521G> T (p.Arg174Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs73749732 6:83892634-83892634 6:83182915-83182915
16 PGM3 NM_015599.3(PGM3): c.1354C> A (p.Leu452Ile) single nucleotide variant Uncertain significance rs201593125 6:83881667-83881667 6:83171948-83171948
17 PGM3 NM_015599.3(PGM3): c.1268T> C (p.Met423Thr) single nucleotide variant Uncertain significance rs1554257039 6:83881753-83881753 6:83172034-83172034
18 PGM3 NM_015599.3(PGM3): c.389+3G> A single nucleotide variant Uncertain significance rs201392846 6:83898330-83898330 6:83188611-83188611
19 PGM3 NM_015599.3(PGM3): c.325A> T (p.Ile109Phe) single nucleotide variant Uncertain significance rs140499200 6:83898397-83898397 6:83188678-83188678
20 PGM3 NM_015599.3(PGM3): c.1327C> G (p.Leu443Val) single nucleotide variant Uncertain significance rs141509908 6:83881694-83881694 6:83171975-83171975
21 PGM3 NM_015599.3(PGM3): c.-2-226T> C single nucleotide variant Uncertain significance rs373825865 6:83900959-83900959 6:83191240-83191240
22 PGM3 NM_015599.3(PGM3): c.1592C> T (p.Ala531Val) single nucleotide variant Uncertain significance 6:83878990-83878990 6:83169271-83169271
23 PGM3 NM_015599.3(PGM3): c.1085A> T (p.Glu362Val) single nucleotide variant Uncertain significance 6:83885724-83885724 6:83176005-83176005
24 PGM3 NM_015599.3(PGM3): c.566A> G (p.Lys189Arg) single nucleotide variant Uncertain significance 6:83892589-83892589 6:83182870-83182870
25 PGM3 NM_015599.3(PGM3): c.219A> G (p.Val73=) single nucleotide variant Uncertain significance 6:83898503-83898503 6:83188784-83188784
26 PGM3 NM_015599.3(PGM3): c.-2-209C> A single nucleotide variant Uncertain significance 6:83900942-83900942 6:83191223-83191223
27 PGM3 NM_015599.3(PGM3): c.1610G> T (p.Arg537Met) single nucleotide variant Uncertain significance 6:83878972-83878972 6:83169253-83169253
28 PGM3 NM_015599.3(PGM3): c.1510G> A (p.Val504Ile) single nucleotide variant Uncertain significance 6:83880053-83880053 6:83170334-83170334
29 PGM3 NM_015599.3(PGM3): c.1327C> T (p.Leu443Phe) single nucleotide variant Uncertain significance 6:83881694-83881694 6:83171975-83171975
30 PGM3 NM_015599.3(PGM3): c.1135T> C (p.Phe379Leu) single nucleotide variant Uncertain significance 6:83884200-83884200 6:83174481-83174481
31 PGM3 NM_015599.3(PGM3): c.847G> A (p.Val283Ile) single nucleotide variant Uncertain significance 6:83889627-83889627 6:83179908-83179908
32 PGM3 NM_015599.3(PGM3): c.618A> C (p.Arg206Ser) single nucleotide variant Uncertain significance 6:83891624-83891624 6:83181905-83181905
33 PGM3 NM_015599.3(PGM3): c.-2-208A> G single nucleotide variant Uncertain significance 6:83900941-83900941 6:83191222-83191222
34 PGM3 NM_015599.3(PGM3): c.389+4A> G single nucleotide variant Uncertain significance 6:83898329-83898329 6:83188610-83188610
35 PGM3 NM_015599.3(PGM3): c.-2-166C> G single nucleotide variant Uncertain significance 6:83900899-83900899 6:83191180-83191180
36 PGM3 NM_015599.3(PGM3): c.1268T> G (p.Met423Arg) single nucleotide variant Uncertain significance 6:83881753-83881753 6:83172034-83172034
37 PGM3 NM_015599.3(PGM3): c.450A> G (p.Gln150=) single nucleotide variant Uncertain significance 6:83896734-83896734 6:83187015-83187015
38 PGM3 NM_015599.3(PGM3): c.181G> T (p.Val61Leu) single nucleotide variant Uncertain significance 6:83900551-83900551 6:83190832-83190832
39 PGM3 NM_015599.3(PGM3): c.787+7C> T single nucleotide variant Likely benign rs376979392 6:83891448-83891448 6:83181729-83181729
40 PGM3 NM_015599.3(PGM3): c.1174G> C (p.Glu392Gln) single nucleotide variant Likely benign rs149679266 6:83884161-83884161 6:83174442-83174442
41 PGM3 NM_015599.3(PGM3): c.-2-190T> A single nucleotide variant Benign rs73749738 6:83900923-83900923 6:83191204-83191204
42 PGM3 NM_015599.3(PGM3): c.1464C> T (p.Tyr488=) single nucleotide variant Benign rs34873318 6:83880099-83880099 6:83170380-83170380
43 PGM3 NM_015599.3(PGM3): c.33A> G (p.Ala11=) single nucleotide variant Benign rs150763574 6:83900699-83900699 6:83190980-83190980

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

74
# 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

GO Terms for Immunodeficiency 23

Sources for Immunodeficiency 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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