Gene Summary

Name:
colony stimulating factor 3 receptor
Synonyms:
Cd114,  G-CSFR,  Csfgr

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
abnormal heart morphology Csf3rtm1.1(KOMP)Vlcg HET Early adult 0.00
hydrometra Csf3rtm1.1(KOMP)Vlcg HET Early adult 0.00
small superior vagus ganglion Csf3rtm1.1(KOMP)Vlcg HET Early adult 0.00
small testis Csf3rtm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, incomplete penetrance Csf3rtm1.1(KOMP)Vlcg HOM   Early adult 0.00
enlarged heart Csf3rtm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal testis morphology Csf3rtm1.1(KOMP)Vlcg HET Early adult 0.00

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
Bone marrow  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Csf3r 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 Csf3r by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830

The table below shows human diseases predicted to be associated to Csf3r by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Papular Xanthoma
Histiocytosis ORPHA:158008
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... OMIM:615285
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating... OMIM:613501
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Ethanolaminosis
Cardiomegaly OMIM:227150
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Immunodeficiency 88
Eosinophilia OMIM:619630
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 46
Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Simplified gyral pattern OMIM:619302
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia, Simplified gyral pattern OMIM:619301
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Increased circulating IgG level, Neutropen... OMIM:619220
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Decreased c... OMIM:308240
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Decreased pro... ORPHA:169154
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia OMIM:604250
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Immunodeficiency 102
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:301082
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, Ag... OMIM:301078
Griscelli Syndrome Type 2
Splenomegaly, Neutropenia, Hemophagocytosis, Pancytopenia ORPHA:79477
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Immunodeficiency 7
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Neutropenia OMIM:615387
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormality... ORPHA:168563
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep... ORPHA:158057
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia OMIM:617475
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Anemia, Splenomegaly, Neutropenia ORPHA:79312
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... ORPHA:98850
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Impaired... OMIM:308230
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... ORPHA:572
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Thrombocytopeni... OMIM:304790
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Impotence ORPHA:85447
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu... OMIM:275350
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia OMIM:246400
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Splenomegaly, Spontan... OMIM:613470
Indolent Systemic Mastocytosis
Splenomegaly, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Mastocytosis ORPHA:98848
Hemochromatosis, Type 1
Hepatomegaly, Azoospermia, Cardiomyopathy, Impotence, Diabetes mellitus, Splenomegaly, Cardiomega... OMIM:235200
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Polymicrogyria, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:614520
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:603909
Kimura Disease
Eosinophilia ORPHA:482
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level... OMIM:601495
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Neonatal Lupus Erythematosus
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia ORPHA:398124
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia... ORPHA:3132
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia OMIM:614868
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu... ORPHA:158061
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Neutropenia OMIM:250940
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Wells Syndrome
Eosinophilia ORPHA:901
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:292
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia OMIM:606054
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Neutropenia ORPHA:47
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutrophil bactericidal activity, Th... OMIM:214500
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... ORPHA:2686
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Autosomal Agammaglobulinemia
Agammaglobulinemia, Neutropenia ORPHA:33110
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Neutrop... OMIM:613989
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Mitochondrial Complex I Deficiency, Nuclear Type 33
Simplified gyral pattern, Neutropenia OMIM:618253
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... OMIM:615816
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Felty Syndrome
Anemia, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Thrombocytopenia, Splenomega... ORPHA:47612
Hemophagocytic Syndrome Associated With An Infection
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl... ORPHA:158048
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hemophagocytosis, Decreased circulating antibody level, Thrombocytopenia, Splenomegaly, R... ORPHA:540
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... OMIM:158330
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Barth Syndrome
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia OMIM:302060
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Leukopenia, Neutropenia OMIM:251000
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Neutropenia, Lymphopenia OMIM:616395
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Granuloma, Hepatosplenomegaly, Splenomegaly, Abscess, Lymphopenia, Impaired oxi... OMIM:618935
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul... OMIM:242900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the u... ORPHA:432
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... ORPHA:860
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Hy... ORPHA:85451
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia OMIM:251110
Aspergillosis
Eosinophilia, Increased circulating IgE level, Neutropenia ORPHA:1163
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp... OMIM:608233
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig... OMIM:300755
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia... OMIM:613990
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... OMIM:615952
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia ORPHA:445038
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Impaired T cell function, Decreased proportion ... ORPHA:1830
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia OMIM:251100
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:600901
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy... OMIM:618280
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... OMIM:612541
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Erectile dysfunction, Decreased libido, Cardiomyopathy, Infertility, Hypothyroidism... ORPHA:465508
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Kasabach-Merritt Phenomenon
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop... ORPHA:2330
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Bone marrow... ORPHA:3226
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni... OMIM:250250
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Pericardial effusion, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614702
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277380
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Mucopolysaccharidosis-Plus Syndrome
Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Thrombocytopenia, Leukopeni... OMIM:617303
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... ORPHA:436159
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227650
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Pulmonic stenosis, Hypoplasia o... ORPHA:3109
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Myotonic Dystrophy 1
Testicular atrophy, Facial diplegia, Cholelithiasis, Hypogonadism OMIM:160900
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Meacham Syndrome
Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian... ORPHA:3097
Leukocyte Adhesion Deficiency
Perianal abscess, Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormalit... ORPHA:2968
Myelofibrosis
Splenomegaly, Extramedullary hematopoiesis, Myeloproliferative disorder, Hemophagocytosis OMIM:254450
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia OMIM:609053
Wolfram Syndrome 1
Optic atrophy, Diabetes insipidus, Cardiomyopathy, Hypothyroidism, Diabetes mellitus, Testicular ... OMIM:222300
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Poikiloderma With Neutropenia
Leukopenia, Splenomegaly, Neutropenia OMIM:604173
Chédiak-Higashi Syndrome
Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura... ORPHA:167
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia ORPHA:79284
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Wolcott-Rallison Syndrome
Lymphocytosis, Iron deficiency anemia, Neutropenia ORPHA:1667
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, Neutropenia OMIM:616271
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... OMIM:620565
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Hepatomegaly, Inappropriate antidiuretic hormone secr... ORPHA:79330
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukemia,... OMIM:227645
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Cinca Syndrome
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis OMIM:607115
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Neutrophilia, Brain abscess ORPHA:54251
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Sepsis In Premature Infants
Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:90051
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Vici Syndrome
Gray matter heterotopia, Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, De... OMIM:242840
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Revesz Syndrome
Aplastic anemia, Bone marrow hypocellularity, Macrocytic anemia, Neutropenia OMIM:268130
Long-Olsen-Distelmaier Syndrome
Optic nerve hypoplasia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Vent... OMIM:620609
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Sideroblastic anemia, T... OMIM:557000
Timothy Syndrome
Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... OMIM:613179
Fusariosis
Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Lymphopenia, Neutropenia ORPHA:228119
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... ORPHA:37042
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... ORPHA:906
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Micropenis OMIM:616897
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Increased circulating IgA level, Leukocytosis, Incr... OMIM:617099
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Relapsing Fever
Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia OMIM:607944
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Whim Syndrome
Decreased circulating antibody level, Neutropenia, Abnormal neutrophil morphology, Lymphopenia ORPHA:51636
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233710
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... OMIM:603554
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233690
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno... OMIM:146255
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Abnormal hea... ORPHA:2237
Fanconi Anemia, Complementation Group D2
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukemia,... OMIM:227646
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia ORPHA:169160
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Hsd10 Disease, Infantile Type
Optic atrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Estrogen Resistance Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Leukocytosis ORPHA:2070
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Hypothyroidism, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Azoospermia, Pancreatic hypo... OMIM:602782
Cohen Syndrome
Neutropenia ORPHA:193
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial... ORPHA:96191
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Leigh Syndrome
Anemia, Neutropenia ORPHA:506
Khan-Khan-Katsanis Syndrome
Neutropenia, Anemia, Lymphopenia OMIM:618460
Omenn Syndrome
Anemia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia ORPHA:39041
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Abnormal autonomic nervous system physiology, Orthostatic hypotension ... OMIM:105210
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277400
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Rectal abscess, Granuloma, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:306400
Glycogen Storage Disease Ib
Splenomegaly, Neutropenia OMIM:232220
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Panhypogammaglobulinemia, Neutropenia ORPHA:33364
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Impotence, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Rothmund-Thomson Syndrome
Aplastic anemia, Anemia, Leukemia, Neutropenia ORPHA:2909
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept... OMIM:602450
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis ORPHA:36238
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Adrenocortical carcinoma, Cardiomyopathy, Pancreatic hyperplasia, ... OMIM:130650
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Anemia, Neutropenia ORPHA:175
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Anemia, Leukemia, Neutropenia ORPHA:221008
Selective Igm Deficiency
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased proporti... ORPHA:331235
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Sickle Cell Disease
Hepatomegaly, Cholelithiasis, Priapism, Splenomegaly, Cardiomegaly OMIM:603903
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475