MCID: IMM169
MIFTS: 22

Immunoerythromyeloid Hypoplasia

Categories: Immune diseases

Aliases & Classifications for Immunoerythromyeloid Hypoplasia

MalaCards integrated aliases for Immunoerythromyeloid Hypoplasia:

Name: Immunoerythromyeloid Hypoplasia 57
Reticular Dysgenesis 71

Characteristics:

OMIM®:

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


HPO:

31
immunoerythromyeloid hypoplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 242880
MedGen 41 C0272167
UMLS 71 C0272167

Summaries for Immunoerythromyeloid Hypoplasia

MalaCards based summary : Immunoerythromyeloid Hypoplasia, is also known as reticular dysgenesis. An important gene associated with Immunoerythromyeloid Hypoplasia is AK2 (Adenylate Kinase 2). Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are decreased circulating igg level and lymphoproliferative disorder

More information from OMIM: 242880

Related Diseases for Immunoerythromyeloid Hypoplasia

Symptoms & Phenotypes for Immunoerythromyeloid Hypoplasia

Human phenotypes related to Immunoerythromyeloid Hypoplasia:

31
# Description HPO Frequency HPO Source Accession
1 decreased circulating igg level 31 HP:0004315
2 lymphoproliferative disorder 31 HP:0005523
3 erythroid hypoplasia 31 HP:0012133
4 absent leukocyte alkaline phosphatase 31 HP:0008161

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Heme:
lymphoproliferative disorder
myeloid aplasia
erythroid aplasia
plasma cell aplasia

Immunology:
hypogammaglobulinemia

Lab:
absent leukocyte alkaline phosphatase
leukocyte intranuclear and intracytoplasmic linear 'crystalloid' structures by electron microscopy

Clinical features from OMIM®:

242880 (Updated 05-Mar-2021)

Drugs & Therapeutics for Immunoerythromyeloid Hypoplasia

Search Clinical Trials , NIH Clinical Center for Immunoerythromyeloid Hypoplasia

Genetic Tests for Immunoerythromyeloid Hypoplasia

Anatomical Context for Immunoerythromyeloid Hypoplasia

MalaCards organs/tissues related to Immunoerythromyeloid Hypoplasia:

40
Bone, Bone Marrow, Myeloid, Neutrophil, Liver, Monocytes, B Cells

Publications for Immunoerythromyeloid Hypoplasia

Articles related to Immunoerythromyeloid Hypoplasia:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. 6 61
19043417 2009
2
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 61 6
19043416 2009
3
Myeloid, erythroid, and immune system defects in a family. A new stem-cell disorder? 57
1137261 1975
4
Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia. 61
32359129 2020
5
Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation. 61
31862378 2020
6
Reticular dysgenesis caused by an intronic pathogenic variant in AK2. 61
32532877 2020
7
A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress. 61
31727854 2019
8
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation. 61
31673062 2019
9
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India. 61
30778343 2019
10
[Rheumatological manifestations in primary immunodeficiency diseases]. 61
29860881 2018
11
Hepatic Legionella pneumophila Infection in an Infant With Severe Combined Immunodeficiency. 61
28938259 2018
12
Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors. 61
29462620 2018
13
Recent advances in understanding the pathogenesis and management of reticular dysgenesis. 61
29270983 2018
14
Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. 61
29021228 2017
15
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome. 61
28331055 2017
16
Postpartum HLA-Matched Bone Marrow Donation from Mother to Neonate for Reticular Dysgenesis. 61
27913909 2017
17
AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages. 61
26270350 2015
18
Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress. 61
26150473 2015
19
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. 61
24290292 2014
20
Differential expression of adenine nucleotide converting enzymes in mitochondrial intermembrane space: a potential role of adenylate kinase isozyme 2 in neutrophil differentiation. 61
24587121 2014
21
Adenylate kinase 2 deficiency limits survival and regulates various genes during larval stages of Drosophila melanogaster. 61
24705759 2014
22
Skeletal abnormalities and successful hematopoietic stem cell transplantation in patients with reticular dysgenesis. 61
23763981 2013
23
First reported case of Omenn syndrome in a patient with reticular dysgenesis. 61
23014587 2013
24
Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis. 61
21458044 2011
25
Adenylate kinase 2 links mitochondrial energy metabolism to the induction of the unfolded protein response. 61
20876536 2011
26
Reticular dysgenesis in a preterm infant: a case report. 61
20863163 2010
27
Altered functional balance of Gfi-1 and Gfi-1b as an alternative cause of reticular dysgenesis? 61
19896777 2010
28
Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome. 61
19414857 2009
29
Adenylate kinase and AMP signaling networks: metabolic monitoring, signal communication and body energy sensing. 61
19468337 2009
30
Successful haploidentical bone marrow transplantation in a patient with reticular dysgenesis: three-year follow-up. 61
17854878 2007
31
Successful cord blood transplantation in a premature and dysmature neonate of 1700 g with reticular dysgenesis. 61
17262063 2007
32
Fatal GvHD as a complication of liver transplantation for undetermined fulminant hepatic failure and associated aplastic anemia. 61
17058230 2006
33
Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients. 61
12040473 2002
34
Neutropenia associated with primary immunodeficiency syndromes. 61
11957193 2002
35
Umbilical cord blood transplantation in severe T-cell immunodeficiency disorders: two-year experience. 61
11202237 2000
36
Langerhans cell deficiency in reticular dysgenesis. 61
10891430 2000
37
[Reticular dysgenesis]. 61
11212742 2000
38
Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness. 61
10484810 1999
39
Kinetics of T-cell development of umbilical cord blood transplantation in severe T-cell immunodeficiency disorders. 61
10329816 1999
40
Recent advances in the pathogenesis and treatment of nonimmune neutropenias in the neonate. 61
9515201 1998
41
B cells and monocytes are not developmentally affected in a case of reticular dysgenesis. 61
9409641 1997
42
Epidermal Langerhans' cells in children with primary T-cell immune deficiencies. 61
9370950 1997
43
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. 61
9063412 1997
44
Haploidentical bone marrow transplants for two patients with reticular dysgenesis. 61
8807131 1996
45
Use of recombinant human granulocyte-macrophage colony stimulating factor in an infant with reticular dysgenesis. 61
8181497 1994
46
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. 61
8410508 1993
47
Effect of recombinant human granulocyte colony-stimulating factor in reticular dysgenesis. 61
7689877 1993
48
[Rare congenital forms of bone marrow deficiency]. 61
8502468 1993
49
Use of recombinant human granulocyte colony stimulating factor in reticular dysgenesis. 61
1381605 1992
50
[Reticular dysgenesis: primary disorder in differentiation of hematopoietic stem cells?]. 61
1708565 1990

Variations for Immunoerythromyeloid Hypoplasia

ClinVar genetic disease variations for Immunoerythromyeloid Hypoplasia:

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AK2 NM_013411.4(AK2):c.636_*2601del Deletion Pathogenic 18250
2 AK2 NM_001625.4(AK2):c.118del (p.Cys40fs) Deletion Pathogenic 18251 rs387906581 1:33490144-33490144 1:33024543-33024543
3 AK2 NM_001625.4(AK2):c.1A>G (p.Met1Val) SNV Pathogenic 18252 rs137853206 1:33502429-33502429 1:33036828-33036828
4 AK2 NM_001625.4(AK2):c.331-1G>A SNV Pathogenic 18253 rs1192619329 1:33487063-33487063 1:33021462-33021462
5 AK2 NM_001625.4(AK2):c.453del (p.Tyr152fs) Deletion Pathogenic 18254 rs1553151177 1:33480168-33480168 1:33014567-33014567
6 AK2 NM_001625.4(AK2):c.498+1G>A SNV Pathogenic 18255 rs777503956 1:33480122-33480122 1:33014521-33014521
7 AK2 NM_001625.4(AK2):c.494A>G (p.Asp165Gly) SNV Pathogenic 18256 rs267606643 1:33480127-33480127 1:33014526-33014526
8 AK2 NM_001625.4(AK2):c.523del (p.Arg175fs) Deletion Pathogenic 446366 rs1553150995 1:33478979-33478979 1:33013378-33013378
9 AK2 NM_001625.4(AK2):c.556C>T (p.Arg186Cys) SNV Pathogenic 18258 rs267606645 1:33478946-33478946 1:33013345-33013345
10 AK2 AK2, EX2 DEL Deletion Pathogenic 18259
11 AK2 NM_001625.4(AK2):c.697A>T (p.Lys233Ter) SNV Pathogenic 18261 rs267606646 1:33478805-33478805 1:33013204-33013204
12 AK2 NM_001625.4(AK2):c.25G>T (p.Glu9Ter) SNV Pathogenic 18262 rs267606647 1:33502405-33502405 1:33036804-33036804
13 AK2 NM_001625.4(AK2):c.545C>A (p.Ala182Asp) SNV Pathogenic 190980 rs559947967 1:33478957-33478957 1:33013356-33013356
14 AK2 NM_001625.4(AK2):c.524G>C (p.Arg175Pro) SNV Likely pathogenic 836023 1:33478978-33478978 1:33013377-33013377
15 AK2 NM_001625.4(AK2):c.307C>T (p.Arg103Trp) SNV Likely pathogenic 18260 rs267606648 1:33487217-33487217 1:33021616-33021616
16 AK2 NM_001625.4(AK2):c.330+5G>A SNV Conflicting interpretations of pathogenicity 661953 rs1569646997 1:33487189-33487189 1:33021588-33021588
17 AK2 NM_001625.4(AK2):c.625G>T (p.Ala209Ser) SNV Uncertain significance 662703 rs12116440 1:33478877-33478877 1:33013276-33013276
18 AK2 NM_001625.4(AK2):c.655G>A (p.Val219Met) SNV Uncertain significance 664531 rs755736918 1:33478847-33478847 1:33013246-33013246
19 AK2 NM_001625.4(AK2):c.307C>A (p.Arg103=) SNV Uncertain significance 665542 rs267606648 1:33487217-33487217 1:33021616-33021616
20 AK2 NM_001625.4(AK2):c.433C>G (p.His145Asp) SNV Uncertain significance 839132 1:33480188-33480188 1:33014587-33014587
21 AK2 NM_001625.4(AK2):c.37C>T (p.Pro13Ser) SNV Uncertain significance 840047 1:33502393-33502393 1:33036792-33036792
22 AK2 NM_001625.4(AK2):c.336_338del (p.Asp113del) Deletion Uncertain significance 840748 1:33487055-33487057 1:33021454-33021456
23 AK2 NM_001625.4(AK2):c.229G>A (p.Glu77Lys) SNV Uncertain significance 850228 1:33487295-33487295 1:33021694-33021694
24 AK2 NM_001625.4(AK2):c.203T>C (p.Met68Thr) SNV Uncertain significance 934715 1:33490059-33490059 1:33024458-33024458
25 AK2 NM_001625.4(AK2):c.449G>A (p.Arg150His) SNV Uncertain significance 944021 1:33480172-33480172 1:33014571-33014571
26 AK2 NM_001625.4(AK2):c.31G>A (p.Glu11Lys) SNV Uncertain significance 944829 1:33502399-33502399 1:33036798-33036798
27 AK2 NM_001625.4(AK2):c.284G>A (p.Gly95Asp) SNV Uncertain significance 949742 1:33487240-33487240 1:33021639-33021639
28 AK2 NM_001625.4(AK2):c.128A>G (p.His43Arg) SNV Uncertain significance 950364 1:33490134-33490134 1:33024533-33024533
29 AK2 NM_001625.4(AK2):c.226G>A (p.Asp76Asn) SNV Uncertain significance 968302 1:33487298-33487298 1:33021697-33021697
30 AK2 NM_001625.4(AK2):c.277A>G (p.Lys93Glu) SNV Uncertain significance 460287 rs767276648 1:33487247-33487247 1:33021646-33021646
31 AK2 NM_001625.4(AK2):c.199A>G (p.Thr67Ala) SNV Uncertain significance 529734 rs771799826 1:33490063-33490063 1:33024462-33024462
32 AK2 NM_001625.4(AK2):c.670C>G (p.Leu224Val) SNV Uncertain significance 567959 rs771562640 1:33478832-33478832 1:33013231-33013231
33 AK2 NM_001625.4(AK2):c.247A>G (p.Ile83Val) SNV Uncertain significance 577089 rs184683619 1:33487277-33487277 1:33021676-33021676
34 AK2 NM_001625.4(AK2):c.631G>A (p.Asp211Asn) SNV Uncertain significance 578484 rs143825456 1:33478871-33478871 1:33013270-33013270
35 AK2 NM_001625.4(AK2):c.457C>G (p.His153Asp) SNV Uncertain significance 581432 rs1164598375 1:33480164-33480164 1:33014563-33014563
36 AK2 NC_000001.11:g.(?_33024422)_(33024587_?)del Deletion Uncertain significance 584028 1:33490023-33490188 1:33024422-33024587
37 AK2 NM_001625.4(AK2):c.470A>G (p.Asn157Ser) SNV Uncertain significance 643382 rs371672441 1:33480151-33480151 1:33014550-33014550
38 AK2 NM_001625.4(AK2):c.638C>A (p.Ser213Tyr) SNV Uncertain significance 644601 rs139238739 1:33478864-33478864 1:33013263-33013263
39 AK2 NM_001625.4(AK2):c.376A>G (p.Ile126Val) SNV Uncertain significance 645331 rs747116598 1:33487017-33487017 1:33021416-33021416
40 AK2 NM_001625.4(AK2):c.55G>A (p.Val19Met) SNV Uncertain significance 651057 rs761910421 1:33502375-33502375 1:33036774-33036774
41 AK2 NM_001625.4(AK2):c.488T>C (p.Met163Thr) SNV Uncertain significance 652357 rs1017955673 1:33480133-33480133 1:33014532-33014532
42 AK2 NM_001625.4(AK2):c.471C>G (p.Asn157Lys) SNV Uncertain significance 654886 rs146442876 1:33480150-33480150 1:33014549-33014549
43 AK2 NM_001625.4(AK2):c.720A>G (p.Ter240=) SNV Uncertain significance 655501 rs375860853 1:33478782-33478782 1:33013181-33013181
44 AK2 NM_001625.4(AK2):c.224G>T (p.Ser75Ile) SNV Uncertain significance 655866 rs140838488 1:33487300-33487300 1:33021699-33021699
45 AK2 NM_001625.4(AK2):c.636_*791del (p.Ala212_Ter240delinsXaa) Deletion Uncertain significance 657641 rs1570186429 1:33477991-33478866 1:33012390-33013265
46 AK2 NM_001625.4(AK2):c.462G>T (p.Glu154Asp) SNV Uncertain significance 659463 rs1569584622 1:33480159-33480159 1:33014558-33014558
47 AK2 NM_001625.4(AK2):c.419C>T (p.Thr140Ile) SNV Uncertain significance 659858 rs192209857 1:33486974-33486974 1:33021373-33021373
48 AK2 NM_001625.4(AK2):c.94G>A (p.Ala32Thr) SNV Uncertain significance 660097 rs779260498 1:33490168-33490168 1:33024567-33024567
49 AK2 NM_001625.4(AK2):c.630C>T (p.Ile210=) SNV Likely benign 529735 rs746330303 1:33478872-33478872 1:33013271-33013271
50 AK2 NM_001625.4(AK2):c.220-5del Deletion Likely benign 529736 rs752085550 1:33487309-33487309 1:33021708-33021708

Expression for Immunoerythromyeloid Hypoplasia

Search GEO for disease gene expression data for Immunoerythromyeloid Hypoplasia.

Pathways for Immunoerythromyeloid Hypoplasia

GO Terms for Immunoerythromyeloid Hypoplasia

Sources for Immunoerythromyeloid Hypoplasia

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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