Gene Summary

Name:
dicer 1, ribonuclease type III
Synonyms:
D12Ertd7e,  1110006F08Rik,  Dicer1

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
preweaning lethality, complete penetrance Dicer1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased red blood cell distribution width Dicer1tm1b(EUCOMM)Wtsi HET Early adult 2.13×10-07
embryonic lethality prior to tooth bud stage Dicer1tm1b(EUCOMM)Wtsi HOM   E12.5 0.00
decreased lean body mass Dicer1tm1b(EUCOMM)Wtsi HET Early adult 7.54×10-05
abnormal retina morphology Dicer1tm1b(EUCOMM)Wtsi HET Early adult 3.90×10-07
absent spleen Dicer1tm1b(EUCOMM)Wtsi HET Early adult 0.00
increased circulating alkaline phosphatase level Dicer1tm1b(EUCOMM)Wtsi HET   Early adult 1.85×10-05
decreased neutrophil cell number Dicer1tm1b(EUCOMM)Wtsi HET Early adult 6.98×10-05
embryonic lethality prior to organogenesis Dicer1tm1b(EUCOMM)Wtsi HOM   E9.5 0.00
decreased grip strength Dicer1tm1b(EUCOMM)Wtsi HET Early adult 6.29×10-05

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (3 of 443)
aorta 0.0%
bone 0.0%
brain 1.13% (5 of 443)
brainstem 0.46% (2 of 437)
brown adipose tissue 0.0%
cartilage tissue 0.23% (1 of 436)
cerebellum 0.7% (3 of 430)
cerebral cortex 0.22% (1 of 451)
esophagus 1.63% (5 of 307)
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.46% (2 of 436)
hypothalamus 0.23% (1 of 436)
kidney 4.98% (22 of 442)
large intestine 4.92% (21 of 427)
liver 0.0%
lower urinary tract 0.0%
lung 0.45% (2 of 443)
lymph node 0.23% (1 of 426)
mammary gland 0.0%
olfactory lobe 0.22% (1 of 446)
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.92% (4 of 437)
parathyroid gland 0.23% (1 of 432)
peripheral nervous system 0.23% (1 of 444)
peyers patch 0.0%
pituitary gland 0.24% (1 of 416)
prostate gland 1.85% (8 of 433)
skeletal muscle 0.0%
skin 0.0%
small intestine 4.73% (21 of 444)
spinal cord 0.66% (3 of 453)
spleen 0.46% (2 of 434)
stomach 3.87% (17 of 439)
striatum 0.46% (2 of 438)
testis 1.12% (5 of 446)
thymus 0.23% (1 of 440)
thyroid gland 2.51% (11 of 438)
trachea 0.46% (2 of 433)
uterus 0.44% (2 of 459)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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 Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

4 Images

Echo

M-Mode Images

32 Images

Adult LacZ

LacZ Images Wholemount

22 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Dicer1 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.

The table below shows human diseases associated to Dicer1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Multinodular Goiter
Testicular seminoma, Sertoli cell neoplasm, Ovarian neoplasm ORPHA:276399
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma OMIM:180295
Pleuropulmonary Blastoma
OMIM:601200
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
OMIM:138800
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
OMIM:618272

The table below shows human diseases predicted to be associated to Dicer1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Immunodeficiency 40
Lymphopenia OMIM:616433
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 8
Lymphopenia OMIM:615401
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 12
Female infertility OMIM:619697
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency 19
Lymphopenia OMIM:615617
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... OMIM:615285
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Hypoplasia of the uterus, Female infertility OMIM:617442
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... OMIM:603552
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:616860
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased proportion of memory T cells, Increased B cell count OMIM:618982
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Glutathione Synthetase Deficiency
Hemolytic anemia, Pigmentary retinopathy, Neutropenia OMIM:266130
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary amenorr... OMIM:612310
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:613501
Stormorken Syndrome
Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Asplenia, Howell-Jo... OMIM:185070
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... OMIM:613673
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Decreas... OMIM:616959
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... OMIM:224120
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617006
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... OMIM:619846
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Increased serum iron, Neutr... OMIM:604250
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Optic atrophy, Neutr... ORPHA:79312
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:617243
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization, Neutropenia, Retinal infarction, Abnormal distri... OMIM:180080
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Immunodeficiency 46
Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Optic atrophy, Microcytic anemi... OMIM:251900
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia OMIM:598500
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Hepatomegaly, Hyperammonemia, Optic atrophy, Neutropenia, Anemia, Thrombocytopenia ORPHA:289916
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... OMIM:300400
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Idiopathic Aplastic Anemia
Retinal hemorrhage, Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytope... ORPHA:88
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158061
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De... OMIM:619374
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
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
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic fibrosis, Hepatomegaly, Asplenia, Cholestasis OMIM:615415
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Ovarian Dysgenesis 3
Female infertility, Aplasia of the ovary, Primary amenorrhea OMIM:614324
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Griscelli Syndrome Type 2
Hyperlipidemia, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade... ORPHA:79477
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Lymphedema, Primary, With Myelodysplasia
Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia OMIM:614038
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hy... OMIM:301078
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Neutropenia OMIM:617056
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen ORPHA:543
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... OMIM:600802
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,... OMIM:269200
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Autoimmune Lymphoproliferative Syndrome, Type Iii
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal... OMIM:615559
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Perifoveal ring of hyperautofluorescence, Chronic active hepatitis, Pigmentary re... OMIM:240300
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Specific Granule Deficiency 2
Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Primary Ciliary Dyskinesia
Rod-cone dystrophy, Polysplenia, Asplenia ORPHA:244
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils,... ORPHA:47
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... ORPHA:54251
Immunodeficiency By Defective Expression Of Mhc Class Ii
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Chronic hepatitis due to... ORPHA:572
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, H... OMIM:304790
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Hyperglycinemia, Methy... OMIM:251000
Chediak-Higashi Syndrome
Hepatomegaly, Ocular albinism, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopeni... OMIM:214500
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype... OMIM:614857
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Neutropenia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Methylmalonic acid... OMIM:251110
Whim Syndrome 1
Neutropenia OMIM:193670
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Cholestatic liver disease, Hepatomegaly, Hemophagoc... ORPHA:540
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Orotic Aciduria
Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocy... OMIM:258900
Pelger-Huet Anomaly
Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant plate... OMIM:169400
Cohen Syndrome
Small for gestational age, Leukopenia, Optic atrophy, Childhood-onset truncal obesity, Neutropeni... OMIM:216550
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Propionic Acidemia
Failure to thrive, Neutropenia, Pancreatitis, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Panc... OMIM:606054
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia,... ORPHA:398124
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... ORPHA:158048
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Neutropenia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Methylmalonic acid... OMIM:251100
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Cholestasis, Abnormal macrophage morphology, Hepatitis,... ORPHA:292
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Felty Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Neutropenia, Bone marrow... ORPHA:47612
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Autoinflammatory Disease, Systemic, X-Linked
Optic neuritis, Hepatosplenomegaly, B lymphocytopenia, Chorioretinitis, Neutropenia OMIM:301081
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:246400
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Lymphocytosis, Hyperbilir... ORPHA:1667
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... ORPHA:3226
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Right Atrial Isomerism
Polysplenia, Abdominal situs ambiguus, Asplenia OMIM:208530
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Macrocytic ... ORPHA:2169
Cyclic Neutropenia
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic neutropenia, Pe... ORPHA:2686
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Large for gestational age, Neutropenia, Bone marrow hypocellularity, Anemia, T... OMIM:614520
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... ORPHA:35078
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Failure to thrive, Neutropenia, Hyperhomocystinemia, Cystathioninemia, Meth... OMIM:277380
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic ... OMIM:606367
Microgastria-Limb Reduction Defects Association
Failure to thrive, Splenogonadal fusion, Biliary tract abnormality, Absent gallbladder, Asplenia OMIM:156810
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... OMIM:613011
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Chorioretinal hypopigmentation, Macrovesicular hepatic st... OMIM:617303
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... OMIM:619705
3-Methylglutaconic Aciduria, Type Viia
Anemia, Anisopoikilocytosis, Neutropenia OMIM:619835
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sc... OMIM:308230
Feingold Syndrome 1
Annular pancreas, Accessory spleen, Polysplenia, Asplenia OMIM:164280
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Transcobalamin Ii Deficiency
Failure to thrive, Macrocytic anemia, Pancytopenia, Neutropenia, Reticulocytopenia OMIM:275350
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia ORPHA:99776
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia, Lymph... ORPHA:520
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h... ORPHA:811
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micr... OMIM:618278
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio... ORPHA:508533
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Failure to thrive, Hepatomegaly OMIM:604273
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... ORPHA:79124
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Abnormal leukocyte morphology, Neutropenia, Abnorma... ORPHA:167
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal... OMIM:613179
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Meckel Syndrome
Pancreatic fibrosis, Accessory spleen, Abnormal chorioretinal morphology, Congenital hepatic fibr... ORPHA:564
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... ORPHA:276
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Sideroblas... OMIM:557000
Barth Syndrome
Failure to thrive, Granulocytopenia, Hypochromic microcytic anemia, Cyclic neutropenia, Neutropenia OMIM:302060
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Peritonitis, Hyponatremia, Neutropenia, Thrombocytopenia ORPHA:391673
Shwachman-Diamond Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Small for gestational age, Pe... OMIM:260400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly,... ORPHA:37042
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Sepsis In Premature Infants
Decreased body weight, Elevated circulating C-reactive protein concentration, Hepatomegaly, Leuko... ORPHA:90051
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Generalized lymp... OMIM:614700
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Hyperlipidemia, Lymphopenia, Pancreatitis, Small for gestational age, Abnormal... ORPHA:1830
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Failure to thrive, Elevated circulating palmitoleylcarnitine concentration,... ORPHA:79284
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Failure to thrive, Hypomethioninemia, Pigmentary retinopathy, Hyperhomocyst... OMIM:277400
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Hepatic fibrosis, Neutropenia, Bone... OMIM:613989
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Hepatomegaly, Ocular albinism, Splenomegaly, Hepatosplenomegaly... OMIM:608233
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Monocytosis... OMIM:612541
X-Linked Lymphoproliferative Disease
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... ORPHA:2442
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice ORPHA:464370
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Failure to thrive, Retinal degeneration, Hyperammonemia, Hypomethioninemia,... ORPHA:79282
Autosomal Agammaglobulinemia
Failure to thrive, Hepatitis, Neutropenia ORPHA:33110
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Neutropenia OMIM:608809
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Optic nerve hypoplasia, Decreased body weight, Neutropenia OMIM:609053
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Premature ovari... OMIM:110100
Hermansky-Pudlak Syndrome 10
Neutropenia, Hepatomegaly, Ocular albinism, Splenomegaly OMIM:617050
Aromatase Deficiency
Ambiguous genitalia, female, Female infertility, Hypergonadotropic hypogonadism, Primary amenorrh... ORPHA:91
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Viral hepatitis, Biliary tract abnormality, Cholangitis, Neutropenia OMIM:209920
Poikiloderma With Neutropenia
Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly OMIM:604173
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hypoplastic spleen, Pancytopenia, Bone marrow hy... ORPHA:699
Meckel Syndrome, Type 1
Splenomegaly, Accessory spleen, Malformation of the hepatic ductal plate, Bile duct proliferation... OMIM:249000
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... OMIM:619644
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Schimke Immunoosseous Dysplasia
Lymphopenia, Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Abno... OMIM:242900
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal retinal morphology, Hypoplastic spleen ORPHA:89844
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Kasabach-Merritt Syndrome
Leukopenia, Reticulocytosis, Hepatic hemangioma, Abnormal lymphatic vessel morphology, Neutropeni... ORPHA:2330
Fanconi Anemia, Complementation Group E
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... OMIM:600901
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Lymphopenia, Neutropenia OMIM:616395
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr... ORPHA:508542
Aspergillosis
Eosinophilia, Hepatitis, Vitritis, Neutropenia ORPHA:1163
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... ORPHA:227990
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells ORPHA:66628
Immunodeficiency 55
Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells OMIM:617827
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenomegaly, ... ORPHA:829
Shwachman-Diamond Syndrome 2
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperechogenic pancreas, Norm... OMIM:617941
Fanconi Anemia, Complementation Group A
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... OMIM:227650
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Fusariosis
Lymphopenia, Peritonitis, Abnormality of the spleen, Brain abscess, Abnormal retinal morphology, ... ORPHA:228119
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells ORPHA:179494
Immunodeficiency 23
Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Hepatic steatosis, Neutropenia ORPHA:445038
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Lymphocytosis, Hepatomegaly, Splenomegaly,... ORPHA:50918
Cartilage-Hair Hypoplasia
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... OMIM:250250
Fanconi Anemia, Complementation Group C
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Bone marrow hypocellulari... OMIM:227645
Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, T... ORPHA:83471
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hyperalaninemia, Failure to thrive, Small for gestational age, Neutropenia OMIM:615471
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Hepatomegaly, Biliary atresia, Abdominal situs inversus, Polysplenia, Asplenia OMIM:306955
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Autoimmune Polyendocrinopathy Type 3
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... ORPHA:227982
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... ORPHA:124
Mirage Syndrome
Decreased body weight, Lymphopenia, Leukopenia, Hypoplastic spleen, Hyponatremia, Anemia, Thrombo... OMIM:617053
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Congenital Erythropoietic Porphyria
Splenomegaly, Increased erythrocyte protoporphyrin concentration, Anisocytosis, Leukopenia, Hemol... ORPHA:79277
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Ataxia-Telangiectasia
Lymphopenia, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased... OMIM:208900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Pulmonary lymphangiectasia, Asplenia OMIM:265380
Cohen Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Neutropenia, Obesity, Failure to thrive in in... ORPHA:193
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Increased prop... OMIM:617099
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia OMIM:607944
Leigh Syndrome
Failure to thrive, Neutropenia, Optic atrophy, Abnormality of the optic nerve, Hyperalaninemia, A... ORPHA:506
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp... OMIM:615952
Agammaglobulinemia, X-Linked
Anemia, Neutropenia, B lymphocytopenia, T lymphocytopenia OMIM:300755
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Hepatic steatosis, Neutropenia OMIM:616271
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Fanconi Anemia, Complementation Group D2
Annular pancreas, Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Bone ma... OMIM:227646
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt... ORPHA:906
Cryptogenic Organizing Pneumonia
Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1302
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Psoriasis 14, Pustular
Cholangitis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis OMIM:614204
Cartilage-Hair Hypoplasia
Failure to thrive, Hypocalcemia, Hepatomegaly, Abnormality of retinal pigmentation, Abnormality o... ORPHA:175
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Cirrhosis, Hepatosplenomegaly, Hepatitis, P... ORPHA:228426
Trichothiodystrophy
Retinal degeneration, Macular degeneration, Increased mean corpuscular hemoglobin concentration, ... ORPHA:33364
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, ... OMIM:612852
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hyperlipidemia, Pancreatitis, Hepatomegaly, Abnormal myeloid leukocyte morphol... ORPHA:79259
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs ambiguus, Asplenia, Abdominal situs inversus OMIM:270100
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Neutropenia OMIM:618005
Herpes Simplex Virus Encephalitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia ORPHA:1930
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, male, Decreased fertility in males, Micropenis, Hy... ORPHA:90796
Hermansky-Pudlak Syndrome
Weight loss, Abnormality of the optic nerve, Ocular albinism, Neutropenia ORPHA:79430
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Anemia, Decreased body weight, Acute myeloid leukemia, Neutropenia OMIM:601347
Pediatric-Onset Graves Disease
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomega... ORPHA:525731
Rothmund-Thomson Syndrome
Small for gestational age, Aplastic anemia, Neutropenia, Calcinosis, Anemia, Leukemia ORPHA:2909
Toxic Epidermal Necrolysis
Pancreatitis, Anemia, Neutropenia, Weight loss, Thrombocytopenia ORPHA:537
Whim Syndrome
Lymphadenitis, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia ORPHA:51636
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Aplastic anemia, Neutropenia, Calcinosis, Anemia, Leukemia ORPHA:221008
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Rod-cone dystrophy, Lymphadenitis, Hepatosplenomegaly, ... OMIM:260920
Zygomycosis
Splenic abscess, Pancreatitis, Peritonitis, Retinal detachment, Brain abscess, Mediastinal lympha... ORPHA:73263
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Oligo... ORPHA:572333
Diamond-Blackfan Anemia 1