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 70

Characteristics:

OMIM®:

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


HPO:

31
immunoerythromyeloid hypoplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 242880
MedGen 41 C0272167
UMLS 70 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 (showing 4, show less)
# 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-Apr-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-Apr-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:

(showing 61, show less)
# Title Authors PMID Year
1
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome. 61 6
28331055 2017
2
Skeletal abnormalities and successful hematopoietic stem cell transplantation in patients with reticular dysgenesis. 6 61
23763981 2013
3
First reported case of Omenn syndrome in a patient with reticular dysgenesis. 6 61
23014587 2013
4
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. 61 6
19043417 2009
5
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 61 6
19043416 2009
6
High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots. 6
29713328 2018
7
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population. 6
30697212 2018
8
Myeloid, erythroid, and immune system defects in a family. A new stem-cell disorder? 57
1137261 1975
9
Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation. 61
31862378 2020
10
Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia. 61
32359129 2020
11
Reticular dysgenesis caused by an intronic pathogenic variant in AK2. 61
32532877 2020
12
A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress. 61
31727854 2019
13
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation. 61
31673062 2019
14
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India. 61
30778343 2019
15
[Rheumatological manifestations in primary immunodeficiency diseases]. 61
29860881 2018
16
Hepatic Legionella pneumophila Infection in an Infant With Severe Combined Immunodeficiency. 61
28938259 2018
17
Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors. 61
29462620 2018
18
Recent advances in understanding the pathogenesis and management of reticular dysgenesis. 61
29270983 2018
19
Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. 61
29021228 2017
20
Postpartum HLA-Matched Bone Marrow Donation from Mother to Neonate for Reticular Dysgenesis. 61
27913909 2017
21
AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages. 61
26270350 2015
22
Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress. 61
26150473 2015
23
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. 61
24290292 2014
24
Adenylate kinase 2 deficiency limits survival and regulates various genes during larval stages of Drosophila melanogaster. 61
24705759 2014
25
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
26
Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis. 61
21458044 2011
27
Adenylate kinase 2 links mitochondrial energy metabolism to the induction of the unfolded protein response. 61
20876536 2011
28
Reticular dysgenesis in a preterm infant: a case report. 61
20863163 2010
29
Altered functional balance of Gfi-1 and Gfi-1b as an alternative cause of reticular dysgenesis? 61
19896777 2010
30
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
31
Adenylate kinase and AMP signaling networks: metabolic monitoring, signal communication and body energy sensing. 61
19468337 2009
32
Successful haploidentical bone marrow transplantation in a patient with reticular dysgenesis: three-year follow-up. 61
17854878 2007
33
Successful cord blood transplantation in a premature and dysmature neonate of 1700 g with reticular dysgenesis. 61
17262063 2007
34
Fatal GvHD as a complication of liver transplantation for undetermined fulminant hepatic failure and associated aplastic anemia. 61
17058230 2006
35
Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients. 61
12040473 2002
36
Neutropenia associated with primary immunodeficiency syndromes. 61
11957193 2002
37
Umbilical cord blood transplantation in severe T-cell immunodeficiency disorders: two-year experience. 61
11202237 2000
38
Langerhans cell deficiency in reticular dysgenesis. 61
10891430 2000
39
[Reticular dysgenesis]. 61
11212742 2000
40
Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness. 61
10484810 1999
41
Kinetics of T-cell development of umbilical cord blood transplantation in severe T-cell immunodeficiency disorders. 61
10329816 1999
42
[Reticular dysgenesis]. 61
9833481 1998
43
Recent advances in the pathogenesis and treatment of nonimmune neutropenias in the neonate. 61
9515201 1998
44
B cells and monocytes are not developmentally affected in a case of reticular dysgenesis. 61
9409641 1997
45
Epidermal Langerhans' cells in children with primary T-cell immune deficiencies. 61
9370950 1997
46
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. 61
9063412 1997
47
Haploidentical bone marrow transplants for two patients with reticular dysgenesis. 61
8807131 1996
48
Severe combined immunodeficiency (SCID) associated neutropenia: a lesson from monozygotic twins. 61
8669937 1996
49
Use of recombinant human granulocyte-macrophage colony stimulating factor in an infant with reticular dysgenesis. 61
8181497 1994
50
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. 61
8410508 1993
51
Effect of recombinant human granulocyte colony-stimulating factor in reticular dysgenesis. 61
7689877 1993
52
[Rare congenital forms of bone marrow deficiency]. 61
8502468 1993
53
Use of recombinant human granulocyte colony stimulating factor in reticular dysgenesis. 61
1381605 1992
54
[Reticular dysgenesis: primary disorder in differentiation of hematopoietic stem cells?]. 61
1708565 1990
55
Lymphokine-activated killer cells in primary immunodeficiencies and acquired immunodeficiency syndrome. 61
2509119 1989
56
Severe congenital leukopenia (reticular dysgenesis). Immunologic and morphologic characterizations of leukocytes. 61
3875278 1985
57
Immunodeficiencies better treated by transplantation. 61
2939602 1985
58
Successful bone-marrow transplantation for reticular dysgenesis. 61
6132037 1983
59
Reticular dysgenesis: report of two brothers. 61
535190 1979
60
Severe combined immunodeficiency with leukopenia (reticular dysgenesis) in siblings: immunologic and histopathologic findings. 61
956962 1976
61
[Constitutional familial leucocytopenia with partial Pelger anomaly and delayed development of bone (author's transl)]. 61
1248491 1976

Variations for Immunoerythromyeloid Hypoplasia

ClinVar genetic disease variations for Immunoerythromyeloid Hypoplasia:

6 (showing 73, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AK2 NM_001625.4(AK2):c.118del (p.Cys40fs) Deletion Pathogenic 18251 rs387906581 GRCh37: 1:33490144-33490144
GRCh38: 1:33024543-33024543
2 AK2 NM_001625.4(AK2):c.1A>G (p.Met1Val) SNV Pathogenic 18252 rs137853206 GRCh37: 1:33502429-33502429
GRCh38: 1:33036828-33036828
3 AK2 NM_001625.4(AK2):c.331-1G>A SNV Pathogenic 18253 rs1192619329 GRCh37: 1:33487063-33487063
GRCh38: 1:33021462-33021462
4 AK2 NM_001625.4(AK2):c.453del (p.Tyr152fs) Deletion Pathogenic 18254 rs1553151177 GRCh37: 1:33480168-33480168
GRCh38: 1:33014567-33014567
5 AK2 NM_001625.4(AK2):c.498+1G>A SNV Pathogenic 18255 rs777503956 GRCh37: 1:33480122-33480122
GRCh38: 1:33014521-33014521
6 AK2 NM_001625.4(AK2):c.494A>G (p.Asp165Gly) SNV Pathogenic 18256 rs267606643 GRCh37: 1:33480127-33480127
GRCh38: 1:33014526-33014526
7 AK2 NM_001625.4(AK2):c.523del (p.Arg175fs) Deletion Pathogenic 446366 rs1553150995 GRCh37: 1:33478979-33478979
GRCh38: 1:33013378-33013378
8 AK2 NM_001625.4(AK2):c.556C>T (p.Arg186Cys) SNV Pathogenic 18258 rs267606645 GRCh37: 1:33478946-33478946
GRCh38: 1:33013345-33013345
9 AK2 AK2, EX2 DEL Deletion Pathogenic 18259 GRCh37:
GRCh38:
10 AK2 NM_001625.4(AK2):c.697A>T (p.Lys233Ter) SNV Pathogenic 18261 rs267606646 GRCh37: 1:33478805-33478805
GRCh38: 1:33013204-33013204
11 AK2 NM_001625.4(AK2):c.25G>T (p.Glu9Ter) SNV Pathogenic 18262 rs267606647 GRCh37: 1:33502405-33502405
GRCh38: 1:33036804-33036804
12 AK2 NM_001625.4(AK2):c.636_*4953del (p.Ser213fs) Deletion Pathogenic 18250 GRCh37: 1:33473829-33478866
GRCh38: 1:33008228-33013265
13 AK2 NM_001625.4(AK2):c.545C>A (p.Ala182Asp) SNV Pathogenic 190980 rs559947967 GRCh37: 1:33478957-33478957
GRCh38: 1:33013356-33013356
14 AK2 NM_001625.4(AK2):c.524G>C (p.Arg175Pro) SNV Likely pathogenic 836023 GRCh37: 1:33478978-33478978
GRCh38: 1:33013377-33013377
15 AK2 NM_001625.4(AK2):c.307C>T (p.Arg103Trp) SNV Likely pathogenic 18260 rs267606648 GRCh37: 1:33487217-33487217
GRCh38: 1:33021616-33021616
16 AK2 NM_001625.4(AK2):c.330+5G>A SNV Conflicting interpretations of pathogenicity 661953 rs1569646997 GRCh37: 1:33487189-33487189
GRCh38: 1:33021588-33021588
17 AK2 NM_001625.4(AK2):c.49C>G (p.Arg17Gly) SNV Conflicting interpretations of pathogenicity 460288 rs138577419 GRCh37: 1:33502381-33502381
GRCh38: 1:33036780-33036780
18 AK2 NM_001625.4(AK2):c.202A>G (p.Met68Val) SNV Conflicting interpretations of pathogenicity 724864 rs548856916 GRCh37: 1:33490060-33490060
GRCh38: 1:33024459-33024459
19 AK2 NM_001625.4(AK2):c.386G>A (p.Ser129Asn) SNV Conflicting interpretations of pathogenicity 517906 rs61750965 GRCh37: 1:33487007-33487007
GRCh38: 1:33021406-33021406
20 AK2 NM_001625.4(AK2):c.698_699del (p.Lys233fs) Deletion Uncertain significance 1034623 GRCh37: 1:33478803-33478804
GRCh38: 1:33013202-33013203
21 AK2 NM_001625.4(AK2):c.79G>A (p.Gly27Ser) SNV Uncertain significance 1043936 GRCh37: 1:33502351-33502351
GRCh38: 1:33036750-33036750
22 AK2 NM_001625.4(AK2):c.336_338del (p.Asp113del) Deletion Uncertain significance 840748 GRCh37: 1:33487055-33487057
GRCh38: 1:33021454-33021456
23 AK2 NM_001625.4(AK2):c.203T>C (p.Met68Thr) SNV Uncertain significance 934715 GRCh37: 1:33490059-33490059
GRCh38: 1:33024458-33024458
24 AK2 NM_001625.4(AK2):c.247A>G (p.Ile83Val) SNV Uncertain significance 577089 rs184683619 GRCh37: 1:33487277-33487277
GRCh38: 1:33021676-33021676
25 AK2 NM_001625.4(AK2):c.433C>G (p.His145Asp) SNV Uncertain significance 839132 GRCh37: 1:33480188-33480188
GRCh38: 1:33014587-33014587
26 AK2 NM_001625.4(AK2):c.31G>A (p.Glu11Lys) SNV Uncertain significance 944829 GRCh37: 1:33502399-33502399
GRCh38: 1:33036798-33036798
27 AK2 NM_001625.4(AK2):c.226G>A (p.Asp76Asn) SNV Uncertain significance 968302 GRCh37: 1:33487298-33487298
GRCh38: 1:33021697-33021697
28 AK2 NM_001625.4(AK2):c.610C>T (p.Arg204Trp) SNV Uncertain significance 998950 GRCh37: 1:33478892-33478892
GRCh38: 1:33013291-33013291
29 AK2 NM_001625.4(AK2):c.622T>C (p.Ser208Pro) SNV Uncertain significance 1001459 GRCh37: 1:33478880-33478880
GRCh38: 1:33013279-33013279
30 AK2 NC_000001.10:g.(?_33490023)_(33490188_?)del Deletion Uncertain significance 1007240 GRCh37: 1:33490023-33490188
GRCh38:
31 AK2 NM_001625.4(AK2):c.37C>T (p.Pro13Ser) SNV Uncertain significance 840047 GRCh37: 1:33502393-33502393
GRCh38: 1:33036792-33036792
32 AK2 NM_001625.4(AK2):c.229G>A (p.Glu77Lys) SNV Uncertain significance 850228 GRCh37: 1:33487295-33487295
GRCh38: 1:33021694-33021694
33 AK2 NM_001625.4(AK2):c.449G>A (p.Arg150His) SNV Uncertain significance 944021 GRCh37: 1:33480172-33480172
GRCh38: 1:33014571-33014571
34 AK2 NM_001625.4(AK2):c.128A>G (p.His43Arg) SNV Uncertain significance 950364 GRCh37: 1:33490134-33490134
GRCh38: 1:33024533-33024533
35 AK2 NM_001625.4(AK2):c.630C>G (p.Ile210Met) SNV Uncertain significance 1015901 GRCh37: 1:33478872-33478872
GRCh38: 1:33013271-33013271
36 AK2 NM_001625.4(AK2):c.532G>A (p.Asp178Asn) SNV Uncertain significance 450394 rs1000645415 GRCh37: 1:33478970-33478970
GRCh38: 1:33013369-33013369
37 AK2 NM_001625.4(AK2):c.322G>A (p.Ala108Thr) SNV Uncertain significance 1016651 GRCh37: 1:33487202-33487202
GRCh38: 1:33021601-33021601
38 AK2 NM_001625.4(AK2):c.530A>G (p.Asp177Gly) SNV Uncertain significance 1017812 GRCh37: 1:33478972-33478972
GRCh38: 1:33013371-33013371
39 AK2 NM_001625.4(AK2):c.631G>A (p.Asp211Asn) SNV Uncertain significance 578484 rs143825456 GRCh37: 1:33478871-33478871
GRCh38: 1:33013270-33013270
40 AK2 NM_001625.4(AK2):c.376A>G (p.Ile126Val) SNV Uncertain significance 645331 rs747116598 GRCh37: 1:33487017-33487017
GRCh38: 1:33021416-33021416
41 AK2 NM_001625.4(AK2):c.224G>T (p.Ser75Ile) SNV Uncertain significance 655866 rs140838488 GRCh37: 1:33487300-33487300
GRCh38: 1:33021699-33021699
42 AK2 NM_001625.4(AK2):c.655G>A (p.Val219Met) SNV Uncertain significance 664531 rs755736918 GRCh37: 1:33478847-33478847
GRCh38: 1:33013246-33013246
43 AK2 NM_001625.4(AK2):c.284G>A (p.Gly95Asp) SNV Uncertain significance 949742 GRCh37: 1:33487240-33487240
GRCh38: 1:33021639-33021639
44 AK2 NM_001625.4(AK2):c.625G>T (p.Ala209Ser) SNV Uncertain significance 662703 rs12116440 GRCh37: 1:33478877-33478877
GRCh38: 1:33013276-33013276
45 AK2 NM_001625.4(AK2):c.307C>A (p.Arg103=) SNV Uncertain significance 665542 rs267606648 GRCh37: 1:33487217-33487217
GRCh38: 1:33021616-33021616
46 AK2 NM_001625.4(AK2):c.670C>G (p.Leu224Val) SNV Uncertain significance 567959 rs771562640 GRCh37: 1:33478832-33478832
GRCh38: 1:33013231-33013231
47 AK2 NM_001625.4(AK2):c.457C>G (p.His153Asp) SNV Uncertain significance 581432 rs1164598375 GRCh37: 1:33480164-33480164
GRCh38: 1:33014563-33014563
48 AK2 NC_000001.11:g.(?_33024422)_(33024587_?)del Deletion Uncertain significance 584028 GRCh37: 1:33490023-33490188
GRCh38: 1:33024422-33024587
49 AK2 NM_001625.4(AK2):c.470A>G (p.Asn157Ser) SNV Uncertain significance 643382 rs371672441 GRCh37: 1:33480151-33480151
GRCh38: 1:33014550-33014550
50 AK2 NM_001625.4(AK2):c.638C>A (p.Ser213Tyr) SNV Uncertain significance 644601 rs139238739 GRCh37: 1:33478864-33478864
GRCh38: 1:33013263-33013263
51 AK2 NM_001625.4(AK2):c.55G>A (p.Val19Met) SNV Uncertain significance 651057 rs761910421 GRCh37: 1:33502375-33502375
GRCh38: 1:33036774-33036774
52 AK2 NM_001625.4(AK2):c.488T>C (p.Met163Thr) SNV Uncertain significance 652357 rs1017955673 GRCh37: 1:33480133-33480133
GRCh38: 1:33014532-33014532
53 AK2 NM_001625.4(AK2):c.471C>G (p.Asn157Lys) SNV Uncertain significance 654886 rs146442876 GRCh37: 1:33480150-33480150
GRCh38: 1:33014549-33014549
54 AK2 NM_001625.4(AK2):c.720A>G (p.Ter240=) SNV Uncertain significance 655501 rs375860853 GRCh37: 1:33478782-33478782
GRCh38: 1:33013181-33013181
55 AK2 NM_001625.4(AK2):c.636_*791del (p.Ala212_Ter240delinsXaa) Deletion Uncertain significance 657641 rs1570186429 GRCh37: 1:33477991-33478866
GRCh38: 1:33012390-33013265
56 AK2 NM_001625.4(AK2):c.462G>T (p.Glu154Asp) SNV Uncertain significance 659463 rs1569584622 GRCh37: 1:33480159-33480159
GRCh38: 1:33014558-33014558
57 AK2 NM_001625.4(AK2):c.419C>T (p.Thr140Ile) SNV Uncertain significance 659858 rs192209857 GRCh37: 1:33486974-33486974
GRCh38: 1:33021373-33021373
58 AK2 NM_001625.4(AK2):c.94G>A (p.Ala32Thr) SNV Uncertain significance 660097 rs779260498 GRCh37: 1:33490168-33490168
GRCh38: 1:33024567-33024567
59 AK2 NM_001625.4(AK2):c.277A>G (p.Lys93Glu) SNV Uncertain significance 460287 rs767276648 GRCh37: 1:33487247-33487247
GRCh38: 1:33021646-33021646
60 AK2 NM_001625.4(AK2):c.199A>G (p.Thr67Ala) SNV Uncertain significance 529734 rs771799826 GRCh37: 1:33490063-33490063
GRCh38: 1:33024462-33024462
61 AK2 NM_001625.4(AK2):c.630C>T (p.Ile210=) SNV Likely benign 529735 rs746330303 GRCh37: 1:33478872-33478872
GRCh38: 1:33013271-33013271
62 AK2 NM_001625.4(AK2):c.220-5del Deletion Likely benign 529736 rs752085550 GRCh37: 1:33487309-33487309
GRCh38: 1:33021708-33021708
63 AK2 NM_001625.4(AK2):c.460G>A (p.Glu154Lys) SNV Likely benign 702342 rs148421308 GRCh37: 1:33480161-33480161
GRCh38: 1:33014560-33014560
64 AK2 NM_001625.4(AK2):c.603C>T (p.Tyr201=) SNV Likely benign 529738 rs138151595 GRCh37: 1:33478899-33478899
GRCh38: 1:33013298-33013298
65 AK2 NM_001625.4(AK2):c.504C>T (p.Thr168=) SNV Likely benign 529739 rs61750964 GRCh37: 1:33478998-33478998
GRCh38: 1:33013397-33013397
66 AK2 NM_001625.4(AK2):c.117C>T (p.Phe39=) SNV Likely benign 732482 rs764509277 GRCh37: 1:33490145-33490145
GRCh38: 1:33024544-33024544
67 AK2 NM_001625.4(AK2):c.25G>A (p.Glu9Lys) SNV Likely benign 737934 rs267606647 GRCh37: 1:33502405-33502405
GRCh38: 1:33036804-33036804
68 AK2 NM_001625.4(AK2):c.642G>A (p.Gln214=) SNV Benign 738543 rs149659319 GRCh37: 1:33478860-33478860
GRCh38: 1:33013259-33013259
69 AK2 NM_001625.4(AK2):c.597G>A (p.Glu199=) SNV Benign 702768 rs150186080 GRCh37: 1:33478905-33478905
GRCh38: 1:33013304-33013304
70 AK2 NM_001625.4(AK2):c.330+8G>C SNV Benign 728276 rs781550197 GRCh37: 1:33487186-33487186
GRCh38: 1:33021585-33021585
71 AK2 NM_001625.4(AK2):c.571C>G (p.His191Asp) SNV Benign 529737 rs80324279 GRCh37: 1:33478931-33478931
GRCh38: 1:33013330-33013330
72 AK2 NM_001625.4(AK2):c.255G>A (p.Lys85=) SNV Benign 460286 rs41301072 GRCh37: 1:33487269-33487269
GRCh38: 1:33021668-33021668
73 AK2 NM_001625.4(AK2):c.625G>A (p.Ala209Thr) SNV Benign 136327 rs12116440 GRCh37: 1:33478877-33478877
GRCh38: 1:33013276-33013276

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

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