IMD23
MCID: IMM080
MIFTS: 40

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 56 52 73 29 6 71
Immunodeficiency with Hyper Ige and Cognitive Impairment 56 73
Pgm3-Related Congenital Disorder of Glycosylation 52 58
Combined Immunodeficiency Due to Pgm3 Deficiency 52 58
Immunodeficiency-Vasculitis-Myoclonus Syndrome 56 73
Cid Due to Pgm3 Deficiency 52 58
Pgm3-Cdg 52 58
Imd23 56 73
Ivms 56 73
Immunodeficiency-Vasculitis-Myoclonus Syndrome; Ivms 56
Phosphoglucomutase Deficiency Type 3 52
Phosphoglucomutase 3 Deficiency 52
Immunodeficiency, Type 23 39

Characteristics:

Orphanet epidemiological data:

58
pgm3-cdg
Inheritance: Autosomal recessive;

OMIM:

56
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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 443811 Definition PGM3-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 immunodeficiency with hyper ige and cognitive impairment, is related to pgm3-congenital disorder of glycosylation and polycystic ovary syndrome, and has symptoms including ataxia An important gene associated with Immunodeficiency 23 is PGM3 (Phosphoglucomutase 3). The drugs Morphine and Narcotics have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and bone, and related phenotypes are decreased proportion of cd4-positive t cells and recurrent skin infections

OMIM : 56 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)

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

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 pgm3-congenital disorder of glycosylation 11.3
2 polycystic ovary syndrome 10.8
3 ovarian hyperstimulation syndrome 10.6
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 filariasis 10.1
11 arteriovenous malformation 10.1
12 dengue disease 10.1
13 diarrhea 10.1
14 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:

58 31 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased proportion of cd4-positive t cells 58 31 hallmark (90%) Very frequent (99-80%) HP:0005407
2 recurrent skin infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0001581
3 cutaneous abscess 58 31 hallmark (90%) Very frequent (99-80%) HP:0031292
4 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
5 ataxia 58 31 frequent (33%) 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 recurrent bacterial infections 58 31 frequent (33%) Frequent (79-30%) HP:0002718
11 decreased proportion of cd3-positive t cells 58 31 frequent (33%) Frequent (79-30%) HP:0045080
12 moderate global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011343
13 recurrent viral infections 58 31 frequent (33%) Frequent (79-30%) HP:0004429
14 atopic dermatitis 58 31 frequent (33%) Frequent (79-30%) HP:0001047
15 rheumatoid factor positive 58 31 frequent (33%) Frequent (79-30%) HP:0002923
16 vasculitis in the skin 58 31 frequent (33%) Frequent (79-30%) HP:0200029
17 reduced antigen-specific t cell proliferation 58 31 frequent (33%) Frequent (79-30%) HP:0031402
18 increased circulating total ige level 31 frequent (33%) HP:0003212
19 increased circulating igg level 31 frequent (33%) HP:0003237
20 dysarthria 58 31 occasional (7.5%) 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 hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001878
24 bone marrow hypocellularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0005528
25 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
26 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
27 asthma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002099
28 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
29 reduced natural killer cell count 58 31 occasional (7.5%) Occasional (29-5%) HP:0040218
30 chronic sinusitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011109
31 bronchiectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002110
32 recurrent fungal infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002841
33 eosinophilia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001880
34 severe combined immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0004430
35 neutropenia in presence of anti-neutropil antibodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0001904
36 hyperactive patellar reflex 58 31 occasional (7.5%) Occasional (29-5%) HP:0007083
37 decreased/absent ankle reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0200101
38 allergic rhinitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003193
39 narrow palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0045025
40 membranoproliferative glomerulonephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000793
41 abnormal cd4:cd8 ratio 58 31 occasional (7.5%) Occasional (29-5%) HP:0031394
42 mild neurosensory hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008587
43 abnormal proportion of cd8 t cells 58 31 occasional (7.5%) Occasional (29-5%) HP:0031393
44 cortical myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0040148
45 lactose intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0004789
46 increased circulating iga level 31 occasional (7.5%) HP:0003261
47 seizures 58 31 very rare (1%) Very rare (<4-1%) HP:0001250
48 brachydactyly 58 31 very rare (1%) Very rare (<4-1%) HP:0001156
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:

56
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:
neutropenia
lymphopenia
decreased cd4+ t cells
immune deficiency
decreased cd8+ t cells
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):


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

40
Skin, T Cells, Bone, Bone Marrow, B Cells, Brain, Ovary

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. 56 6
24931394 2014
2
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. 56 6
24589341 2014
3
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. 56 6
24698316 2014
4
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment. 56 6
14981714 2004
5
[Familial form of the Buckley syndrome with anomalies of cellular immunity]. 56 6
3500672 1987
6
The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives. 61
27634199 2017
7
[Primary non-Hodgkin's lymphoma of the brain]. 61
9889638 1998

Variations for Immunodeficiency 23

ClinVar genetic disease variations for Immunodeficiency 23:

6 (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 deletion Pathogenic 224831 6:83013454-84395825
3 PGM3 NM_015599.3(PGM3):c.1501G>C (p.Glu501Gln)SNV Pathogenic 133316 rs587777413 6:83880062-83880062 6:83170343-83170343
4 PGM3 NM_015599.3(PGM3):c.1354_1358del (p.Leu452fs)deletion Pathogenic 133317 rs587777414 6:83881663-83881667 6:83171944-83171948
5 PGM3 NM_015599.3(PGM3):c.891T>G (p.Asp297Glu)SNV Pathogenic 133318 rs587777415 6:83889583-83889583 6:83179864-83179864
6 PGM3 NM_015599.3(PGM3):c.1020_1022del (p.Glu340_Val341delinsAsp)deletion Pathogenic 133319 rs587777416 6:83888399-83888401 6:83178680-83178682
7 PGM3 NM_015599.3(PGM3):c.248T>C (p.Leu83Ser)SNV Pathogenic 133320 rs267608260 6:83898474-83898474 6:83188755-83188755
8 PGM3 NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr)SNV Pathogenic 133321 rs267608261 6:83880059-83880059 6:83170340-83170340
9 PGM3 NM_015599.3(PGM3):c.737A>G (p.Asn246Ser)SNV Pathogenic 140732 rs587777562 6:83891505-83891505 6:83181786-83181786
10 PGM3 NM_015599.3(PGM3):c.737dup (p.Asn246fs)duplication Pathogenic 140734 rs587777564 6:83891504-83891505 6:83181785-83181786
11 PGM3 NM_015599.3(PGM3):c.1352A>G (p.Gln451Arg)SNV Pathogenic 140735 rs587777565 6:83881669-83881669 6:83171950-83171950
12 PGM3 NM_015599.3(PGM3):c.520C>T (p.Arg174Ter)SNV Pathogenic 541844 rs762678772 6:83892635-83892635 6:83182916-83182916
13 PGM3 NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)SNV Pathogenic/Likely pathogenic 505650 rs144104577 6:83880089-83880089 6:83170370-83170370
14 PGM3 NM_015599.3(PGM3):c.521G>T (p.Arg174Leu)SNV Conflicting interpretations of pathogenicity 475003 rs73749732 6:83892634-83892634 6:83182915-83182915
15 PGM3 NM_015599.3(PGM3):c.965T>C (p.Ile322Thr)SNV Conflicting interpretations of pathogenicity 421723 rs745508510 6:83888456-83888456 6:83178737-83178737
16 PGM3 NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile)SNV Uncertain significance 445475 rs201593125 6:83881667-83881667 6:83171948-83171948
17 PGM3 NM_015599.3(PGM3):c.1268T>C (p.Met423Thr)SNV Uncertain significance 475000 rs1554257039 6:83881753-83881753 6:83172034-83172034
18 PGM3 NM_015599.3(PGM3):c.389+3G>ASNV Uncertain significance 475002 rs201392846 6:83898330-83898330 6:83188611-83188611
19 PGM3 NM_015599.3(PGM3):c.325A>T (p.Ile109Phe)SNV Uncertain significance 541843 rs140499200 6:83898397-83898397 6:83188678-83188678
20 PGM3 NM_015599.3(PGM3):c.-2-226T>CSNV Uncertain significance 541846 rs373825865 6:83900959-83900959 6:83191240-83191240
21 PGM3 NM_015599.3(PGM3):c.1327C>G (p.Leu443Val)SNV Uncertain significance 541845 rs141509908 6:83881694-83881694 6:83171975-83171975
22 PGM3 NM_015599.3(PGM3):c.1592C>T (p.Ala531Val)SNV Uncertain significance 568676 rs541410808 6:83878990-83878990 6:83169271-83169271
23 PGM3 NM_015599.3(PGM3):c.1268T>G (p.Met423Arg)SNV Uncertain significance 578266 rs1554257039 6:83881753-83881753 6:83172034-83172034
24 PGM3 NM_015599.3(PGM3):c.566A>G (p.Lys189Arg)SNV Uncertain significance 626147 rs1251637218 6:83892589-83892589 6:83182870-83182870
25 PGM3 NM_015599.3(PGM3):c.219A>G (p.Val73=)SNV Uncertain significance 626148 rs752657453 6:83898503-83898503 6:83188784-83188784
26 PGM3 NM_015599.3(PGM3):c.-2-209C>ASNV Uncertain significance 625989 rs1438440008 6:83900942-83900942 6:83191223-83191223
27 PGM3 NM_015599.3(PGM3):c.450A>G (p.Gln150=)SNV Uncertain significance 665610 6:83896734-83896734 6:83187015-83187015
28 PGM3 NM_015599.3(PGM3):c.1610G>T (p.Arg537Met)SNV Uncertain significance 653071 6:83878972-83878972 6:83169253-83169253
29 PGM3 NM_015599.3(PGM3):c.1510G>A (p.Val504Ile)SNV Uncertain significance 646876 6:83880053-83880053 6:83170334-83170334
30 PGM3 NM_015599.3(PGM3):c.1327C>T (p.Leu443Phe)SNV Uncertain significance 640594 6:83881694-83881694 6:83171975-83171975
31 PGM3 NM_015599.3(PGM3):c.1135T>C (p.Phe379Leu)SNV Uncertain significance 655964 6:83884200-83884200 6:83174481-83174481
32 PGM3 NM_015599.3(PGM3):c.847G>A (p.Val283Ile)SNV Uncertain significance 656480 6:83889627-83889627 6:83179908-83179908
33 PGM3 NM_015599.3(PGM3):c.618A>C (p.Arg206Ser)SNV Uncertain significance 659212 6:83891624-83891624 6:83181905-83181905
34 PGM3 NM_015599.3(PGM3):c.181G>T (p.Val61Leu)SNV Uncertain significance 664798 6:83900551-83900551 6:83190832-83190832
35 PGM3 NM_015599.3(PGM3):c.-2-208A>GSNV Uncertain significance 662797 6:83900941-83900941 6:83191222-83191222
36 PGM3 NM_015599.3(PGM3):c.389+4A>GSNV Uncertain significance 647194 6:83898329-83898329 6:83188610-83188610
37 PGM3 NM_015599.3(PGM3):c.-2-166C>GSNV Uncertain significance 649678 6:83900899-83900899 6:83191180-83191180
38 PGM3 NM_015599.3(PGM3):c.787+7C>TSNV Likely benign 541847 rs376979392 6:83891448-83891448 6:83181729-83181729
39 PGM3 NM_015599.3(PGM3):c.-2-190T>ASNV Benign 475004 rs73749738 6:83900923-83900923 6:83191204-83191204

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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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