Gene Summary

Name:
GDP-mannose 4, 6-dehydratase
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased memory-marker NK cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased CD4-positive, alpha beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased hematocrit Gmdstm1a(KOMP)Wtsi HOM Early adult 8.90×10-06
increased CD8-positive, alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased CD4-positive, alpha beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal cranium morphology Gmdstm1a(KOMP)Wtsi HOM Early adult 4.58×10-07
increased neutrophil cell number Gmdstm1a(KOMP)Wtsi HOM Early adult 0.00
decreased KLRG1+ CD8 alpha beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased Ly6C-positive NK T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased dendritic cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased CD8-positive, alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased NK T cell number Gmdstm1a(KOMP)Wtsi HOM Early adult 0.00
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating iron level Gmdstm1a(KOMP)Wtsi HOM Early adult 2.01×10-09
increased CD4-negative NK T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal snout morphology Gmdstm1a(KOMP)Wtsi HOM   Early adult 6.10×10-06
increased granulocyte number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased CD4-positive NK T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased hemoglobin content Gmdstm1a(KOMP)Wtsi HOM Early adult 7.22×10-05
decreased CD8-positive, naive alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased gamma-delta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased leukocyte cell number Gmdstm1a(KOMP)Wtsi HOM Early adult 8.38×10-29
decreased lean body mass Gmdstm1a(KOMP)Wtsi HOM   Early adult 3.23×10-05
decreased erythrocyte cell number Gmdstm1a(KOMP)Wtsi HOM Early adult 4.71×10-06
decreased T-helper cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased effector memory CD8-positive, alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased KLRG1-positive NK cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased plasmacytoid dendritic cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal bone structure Gmdstm1a(KOMP)Wtsi HOM Early adult 1.84×10-05
decreased memory-marker CD4-positive NK T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased grip strength Gmdstm1a(KOMP)Wtsi HOM Early adult 1.00×10-05
decreased Ly6C-positive mature NK cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased regulatory T cell number Gmdstm1a(KOMP)Wtsi HOM Early adult 0.00
increased monocyte cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased body length Gmdstm1a(KOMP)Wtsi HOM Early adult 3.15×10-16
increased immature NK cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating magnesium level Gmdstm1a(KOMP)Wtsi HOM   Early adult 3.73×10-05
decreased memory-marker CD4-negative NK T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased NK cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased transitional stage T2 B cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased mature NK cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased total body fat amount Gmdstm1a(KOMP)Wtsi HOM   Early adult 3.87×10-05
decreased macrophage cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 125 images

View all 9 images

Human diseases caused by Gmds mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gmds by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Immunodeficiency 17
Failure to thrive, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Delayed femoral head ossification, Multicentric femoral head ossification ORPHA:168621
Immunodeficiency 8
Lymphopenia OMIM:615401
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Osteo... ORPHA:398063
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating... OMIM:616050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... ORPHA:158057
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Failure to thrive, Reduced natural killer cell count, Perianal abscess, T lymp... OMIM:618108
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Reduced natural killer cell count, Decreased proportion of CD4-posi... OMIM:619510
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Failure to thrive, Anemia, Hyperuricemia, Hypomagnesemia, Thrombocytopenia OMIM:613845
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Immunodeficiency 54
Failure to thrive, Reduced natural killer cell count, Splenomegaly OMIM:609981
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Weight loss, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T ... ORPHA:90362
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Decreased prop... OMIM:617241
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Reduced natural killer cell count, T lymphocytopenia, Short nose OMIM:242860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Splenomegaly OMIM:608971
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Osteopenia, Acute myeloid leuke... ORPHA:486
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly,... ORPHA:169154
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Failure to thrive, Decreased proportion of CD3-positive T ... ORPHA:276
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Hypoplasia of the thymus, Anemia, Wide n... OMIM:612541
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Monocytosis OMIM:610680
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Failure to thrive, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Elevated circ... OMIM:619644
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Papular Xanthoma
Histiocytosis ORPHA:158008
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Histiocytosis OMIM:235900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune... ORPHA:911
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Wide nasal bridge,... OMIM:608233
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Absent natural kil... OMIM:600802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Neutropenia, Decreased prealbumin level, Neutropenia in p... ORPHA:37042
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Failure to thrive,... OMIM:617514
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin ORPHA:3319
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Colchicine Poisoning
Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... ORPHA:31824
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Kenny-Caffey Syndrome, Type 1
Anemia, Calvarial osteosclerosis, Hypomagnesemia, Decreased skull ossification, Hypocalcemia OMIM:244460
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Increased circulating... OMIM:604250
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Bone marrow hypocellularity, S... ORPHA:2442
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Wide nasal bridge, Osteopenia, Reduced natural killer cell count, Decreased pr... ORPHA:221139
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... ORPHA:158048
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, D... OMIM:300853
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Acute Peripheral Arterial Occlusion
Leukocytosis ORPHA:90064
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatospl... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... ORPHA:35078
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary hematopoiesis, T... OMIM:615285
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:158061
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Increased circulating ferr... OMIM:618963
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Anemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Neuroleptic Malignant Syndrome
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... ORPHA:94093
Acquired Partial Lipodystrophy
Lipoatrophy, Lymphocytosis ORPHA:79087
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:613501
Immunodeficiency 31C
Lymphopenia, Osteopenia, Autoimmune hemolytic anemia OMIM:614162
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Abnormal bone structure, Splenomegaly ORPHA:46532
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617006
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells,... ORPHA:79124
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia,... OMIM:300400
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Hyperuricemia ORPHA:543
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Immunodeficiency 22
Failure to thrive, Panniculitis, Decreased proportion of CD4-positive helper T cells OMIM:615758
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Fasciitis, Decreased proportion of transiti... ORPHA:331235
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoimmune thromb... OMIM:613011
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Failur... ORPHA:572
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells OMIM:618982
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Pearson Syndrome
Neutropenia, Small for gestational age, Hypokalemia, Anemia, Hypophosphatemia, Bone marrow hypoce... ORPHA:699
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Macrocephaly/Autism Syndrome
Obesity, Short nose, Lymphopenia, Splenomegaly OMIM:605309
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Bone-marrow foa... OMIM:607616
Schnitzler Syndrome
Leukocytosis, Anemia, Increased bone mineral density, Splenomegaly ORPHA:37748
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... OMIM:619381
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Pannicu... OMIM:617099
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Mu-Heavy Chain Disease
Abnormal B cell count, Weight loss, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... ORPHA:101096
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Long nose, Craniosynostosis, Short nose, Hypereosinophilia, Decreased proportion of CD4-positive ... ORPHA:508533
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Failure to thrive, Splenomegaly, Increased proportion autoreactive unresp... OMIM:618534
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Weight loss, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbumine... OMIM:209950
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Failure to thrive, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis OMIM:230600
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:611762
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia ORPHA:514
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells OMIM:301045
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... ORPHA:91547
Leishmaniasis
Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, P... ORPHA:507
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Hypouricemia, Decreased proportion of CD3-positive T cells, Autoimmun... ORPHA:760
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenome... OMIM:603554
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Short nose, Wide nasal bridge OMIM:612563
Cinca Syndrome
Leukocytosis, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-reactive protein c... OMIM:607115
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral ... ORPHA:848
Immunodeficiency 46
Anemia, Neutropenia, Failure to thrive, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency 55
Neutropenia OMIM:617827
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... ORPHA:231222
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Weight loss, Bone marrow hypocellularity, Splenomegaly, Myeloprolif... ORPHA:3226
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:120100
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Cellulitis, Neutrophilia OMIM:266265
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Decreased proportion of CD4+CD... OMIM:606367
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Herpes Simplex Virus Encephalitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia ORPHA:1930
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Failure to thrive, Splenomegaly OMIM:607271
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Candidiasis, Familial, 2
Hypereosinophilia, Decreased serum iron OMIM:212050
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Neutropenia OMIM:601495
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positive T cells... ORPHA:169160
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Muckle-Wells Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:191900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Failure to thrive, Anemia, Amelogenesis imperfe... OMIM:617475
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig... OMIM:613101
Immunodeficiency 49
Eosinophilia, Lymphopenia, Umbilical hernia OMIM:617237
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Myelofibrosis, Bone marrow hypocellularity, Splenomegaly, Acute my... ORPHA:86843
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia, Wide nasal bridge OMIM:618067
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Microcytic anemia, Neutropenia OMIM:251900
Cryptogenic Organizing Pneumonia
Leukocytosis, Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia ORPHA:1302
Whim Syndrome 1
Neutropenia OMIM:193670
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis, Hyponatremia ORPHA:83601
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal circulating... ORPHA:86839
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Congenital thrombocytopenia, Increased circulating ferritin concentration OMIM:618886
Obesity Due To Congenital Leptin Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:66628
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Cellulitis, Tooth abscess, D... ORPHA:2686
Chronic Beryllium Disease
Weight loss, Abnormal proportion of CD4-positive T cells ORPHA:133
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... OMIM:607594
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Weight loss, Anemia, Neutrophilia, Elevated circulating C-reactive protein concent... ORPHA:54251
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Weight loss, Osteoporosis, Anemia, Abnorma... ORPHA:98850
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia ORPHA:100
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:179494
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Increased ... OMIM:613179
Eosinophilic Gastroenteritis
Leukocytosis, Weight loss, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive... ORPHA:2070
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia ORPHA:2643
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Cinca Syndrome
Leukocytosis, Anemia, Abnormal granulocyte morphology, Splenomegaly, Reduced bone mineral density... ORPHA:1451
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Failure to thrive, Anemia, Splenomegaly, Hyperammonemia, Thrombocytopenia ORPHA:79312
Lichtenstein Syndrome
Enamel hypoplasia, Osteoporosis, Neutropenia OMIM:246550
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Umbilical hernia ORPHA:2268
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Panniculitis, Anemia, Lipodystrophy, Splenomegaly, Lymphopenia, Hypertriglycer... OMIM:617591
Thymic Aplasia
Decreased proportion of naive T cells, Hypocalcemic tetany, Coombs-positive hemolytic anemia, Fai... ORPHA:83471
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Cachexia, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis,... ORPHA:824
Lymphoproliferative Syndrome, X-Linked, 2
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancytopenia, A... OMIM:300635
Barth Syndrome
Failure to thrive, Granulocytopenia, Neutropenia OMIM:302060
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Small for gestational age, Osteopenia, Microcytic anemia, Multip... ORPHA:2959
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia OMIM:251190
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia, Hyperammonemia ORPHA:289916
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Slc35A1-Cdg
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis ORPHA:238459
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Anemia, Osteopenia, Lymphopenia, Thrombocytopenia OMIM:242900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive OMIM:617718
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, Lymphop... OMIM:242700
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis ORPHA:206594
Tularemia
Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess ORPHA:3392
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia, Hyperuricemia OMIM:617056
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Achilles tendon contracture, Elevated circulating creatine kinase... ORPHA:353
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Thrombocytopenia OMIM:617243
Psoriasis 14, Pustular
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia OMIM:614204
Adult-Onset Still Disease
Leukocytosis, Abnormal circulating lipid concentration, Bone marrow hypocellularity, Splenomegaly... ORPHA:829
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukopenia ORPHA:36238
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Failure to thrive, Reduced red cell adenosine deaminase level, Splenomegaly, A... OMIM:102700
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia ORPHA:90060
Omenn Syndrome
Leukocytosis, Failure to thrive, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Ataxia-Telangiectasia
Leukemia, Hypoplasia of the thymus, Elevated alpha-fetoprotein, Decreased proportion of CD4-posit... OMIM:208900
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Hy... ORPHA:292
Gitelman Syndrome
Chondrocalcinosis, Hypokalemia, Iron deficiency anemia, Failure to thrive, Hypomagnesemia, Hypoca... ORPHA:358
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Weight loss, Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:2902
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Failure to thrive ORPHA:275
Majeed Syndrome
Leukocytosis, Cachexia, Hypochromic microcytic anemia, Failure to thrive, Congenital hypoplastic ... ORPHA:77297
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Weight loss, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Inguinal hernia OMIM:614857
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Anterior Cutaneous Nerve Entrapment Syndrome
Leukocytosis, Decreased body weight, Inguinal hernia ORPHA:51890
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Felty Syndrome
Neutropenia, Weight loss, Abnormal lymphocyte morphology, Anemia, Bone marrow hypocellularity, Sp... ORPHA:47612
Hemochromatosis, Type 2B
Increased serum iron, Anemia, Elevated transferrin saturation, Splenomegaly, Increased circulatin... OMIM:613313
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Failure to th... OMIM:267700
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Panniculitis, Anemia, Bone marrow hypocellularity, Ly... ORPHA:508542
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly OMIM:616100
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceri... OMIM:618398
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly OMIM:604173
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... ORPHA:1667
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Neutropenia, Small for gestational age, Failure to t... OMIM:260400
Griscelli Syndrome Type 2
Neutropenia, Hyperlipidemia, Splenomegaly, Pancytopenia, Hemophagocytosis ORPHA:79477
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... OMIM:618935
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production OMIM:614900
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Failure to thrive, Anemia, Lymphopenia, Elevated circulating C-reacti... OMIM:615934
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Autoimmune thrombocytopenia, Lymphopenia, Sclerosis of skull base, T lymphocytopenia OMIM:607944
X-Linked Agammaglobulinemia
Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive, Weight loss, Anemia, Hypoc... ORPHA:47
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Neutropenia, Small for gestational age, Thrombocytopenia ORPHA:391673
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Inguinal hernia, Anemia, Lymphopenia, Reduced bone mineral density ORPHA:935
Nijmegen Breakage Syndrome
B lymphocytopenia, Long nose, Thrombocytopenia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:251260
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia, Delayed ossification of carpal bones OMIM:617425
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... ORPHA:330015
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Mirage Syndrome
Hyperkalemia, Hyponatremia, Radial club hand, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, ... OMIM:617053
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Failure to thrive, Anemia, Bone marrow hypocellularity, Large for gestational age, T... OMIM:614520
Myopathy With Extrapyramidal Signs
Leukocytosis, Elevated circulating creatine kinase concentration, Hypervalinemia, Extremely eleva... OMIM:615673
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Lig4 Syndrome
Pancytopenia, Leukocytosis, Wide nasal bridge, Acute leukemia ORPHA:99812
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Popov-Chang syndrome
Failure to thrive, Lymphopenia, Long nose OMIM:618428
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Ebola Hemorrhagic Fever
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:319218
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Panniculitis, Anemia, Neutrophilia, Ac... ORPHA:3243
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Anemia, Bone marrow hypocellularity, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Lung abscess, Weight loss, Anemia, Hypoalbuminemia, Liver abscess ORPHA:67
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Wide nasal bridge, Microcytic anemia, Flexion contracture, HbH hemoglobin ORPHA:98791
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Anemia, Elevated transferrin saturation OMIM:606069
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Failure to thrive, Anemia, Increased total bilirubin, ... OMIM:603553
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Small for gestational age, Hyperlipidemia... ORPHA:1830
Retinal Venous Beading
Neutropenia OMIM:180080
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Small for gestat... ORPHA:84064
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Abscess, Periostitis, Splenomegaly, Osteopenia, Neutrophilia, Eleva... OMIM:612852
Propionic Acidemia
Neutropenia, Failure to thrive, Osteoporosis, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopen... OMIM:606054
Legionnaires Disease
Hyponatremia, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Cellulitis ORPHA:549
Methylmalonic Aciduria, Cblb Type
Neutropenia, Methylmalonic acidemia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, ... OMIM:251110
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Livedoid Vasculopathy
Leukocytosis, Hyperhomocystinemia, Polycythemia, Abnormal circulating lipid concentration, Atroph... ORPHA:542643
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Failure to thrive, Me... OMIM:277380
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Normocytic hypoplastic anem... OMIM:610377
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis ORPHA:86884
Immunodeficiency 23
Neutropenia, Failure to thrive, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Methylmalonic Aciduria, Cbla Type
Neutropenia, Methylmalonic acidemia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, ... OMIM:251100
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia ORPHA:199343
Systemic Capillary Leak Syndrome
Leukocytosis, Weight loss ORPHA:188
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Common Variable Immunodeficiency
Failure to thrive in infancy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic a... ORPHA:1572
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Failure to thrive, Anemia, Autoimmune thrombocytop... OMIM:304790
Avian Influenza
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... ORPHA:454836
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Fasciitis, Panniculitis, Lym... ORPHA:228119
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia ORPHA:398124
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Autosomal Agammaglobulinemia
Failure to thrive, Cellulitis, Neutropenia ORPHA:33110
Short Stature, Microcephaly, And Endocrine Dysfunction
Long nose, Abnormal circulating lipid concentration, Anemia, Truncal obesity, Lymphopenia, Inguin... OMIM:616541
Gaisböck Syndrome
Hyperproteinemia, Obesity, Increased red blood cell count, Increased circulating renin level, Hyp... ORPHA:90041
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Wide nasal bridge, Splenomegaly, Fl... OMIM:617303
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Leukopenia, Panniculitis, Anemia, Bone marrow hypocellularity, Sple... OMIM:615688
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia, Failure to thrive, Short nose, Wide nasal bridge, Osteopenia, Flexion contracture OMIM:618005
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Sickle Cell Anemia
Leukocytosis, Hemolytic anemia, Increased red cell sickling tendency, Splenomegaly OMIM:603903
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Failure to thrive, Reticulocytopenia, Pancytopenia OMIM:275350
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Failure to thrive, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Sev... ORPHA:293978
Pyomyositis
Leukocytosis, Weight loss, Recurrent cutaneous abscess formation ORPHA:764
Hypermanganesemia With Dystonia 1
Polycythemia, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... OMIM:613280
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss, Eosinophilia, Lymphocytosis ORPHA:139402
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Failure to thrive, Short nose, Reduced subcutaneous adipose tissue, Arthrogrypos... OMIM:619503
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Neutropenia OMIM:608809
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Diamond-Blackfan Anemia 6
Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561