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Gene: Csf3r MGI:1339755

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
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.

X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Adult LacZ

LacZ Images Section

9 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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
Neutropenia, Acute myeloid leukemia OMIM:607847
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... 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
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... OMIM:202700
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis OMIM:260570
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Neutropenia OMIM:614868
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... OMIM:606843
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Agammaglobulinemia 7, Autosomal Recessive
Panhypogammaglobulinemia, Reduced natural killer cell count, Agammaglobulinemia, Neutropenia OMIM:615214
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia OMIM:602079
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Increased circulating antibody level, Extramedullary hematopoiesis, Anemia, Thrombocy... OMIM:615285
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... OMIM:619041
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... ORPHA:859
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... OMIM:619707
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Abnormal T cell morphology, Absent circulating B cells, Agammaglob... OMIM:613501
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... OMIM:618986
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Neutropenia, Decreased circulating IgA level, Decreased circulat... OMIM:613502
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... OMIM:226990
Ethanolaminosis
Cardiomegaly OMIM:227150
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... OMIM:614470
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Immunodeficiency 46
Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia, Anemia OMIM:616740
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, 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
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Refractory anemia, Leukopenia, Acute myeloid leukemia OMIM:616871
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Papular Xanthoma
Histiocytosis ORPHA:158008
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macr... OMIM:300835
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Simplified gyral pattern, Thrombocytopenia, Anemia OMIM:619302
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Simplified gyral pattern, Thrombocytopenia OMIM:619301
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Reticular Dysgenesis
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... OMIM:267500
Bone Marrow Failure Syndrome 6
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Increased mean cor... OMIM:618849
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... OMIM:619705
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... OMIM:150550
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:598500
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hemophagocytosis, Anemia, Reduced natural killer cell activity, Granulocytopenia OMIM:608898
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic card... OMIM:620135
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Reduced natural killer cell activity, Increased circulating Ig... OMIM:308240
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Aplasia of the uterus, Primary amenorrh... OMIM:273250
Leydig Cell Hypoplasia
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:755
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Increased circulating IgA level, Increased circulating antibody level, Decrea... ORPHA:169154
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Slc35A1-Cdg
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia ORPHA:238459
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Hemochromatosis, Type 3
Neutropenia, Lymphopenia, Anemia OMIM:604250
Idiopathic Aplastic Anemia
Anemia, Bone marrow hypocellularity, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:88
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, Hypergonadotropic ... OMIM:618078
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Bone marrow hypocellularity, Ch... ORPHA:811
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Thrombocytopenia, B l... OMIM:301078
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Decreased circulating total IgM, Complete or near-complete absence of specifi... OMIM:301081
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... OMIM:601859
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... ORPHA:486
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... ORPHA:158057
Griscelli Syndrome Type 2
Neutropenia, Pancytopenia, Hemophagocytosis, Splenomegaly ORPHA:79477
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular d... ORPHA:168563
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... OMIM:619752
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Delayed puberty, Abnormal sperm morphology, Decreased testicular size, Testicular... ORPHA:52901
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia OMIM:615387
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... ORPHA:1916
Sea-Blue Histiocyte Disease
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Specific Granule Deficiency 2
Neutropenia, Thrombocytopenia, Absent neutrophil specific granules, Anemia OMIM:617475
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Neutropenia, Splenomegaly, Anemia ORPHA:79312
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Reticulocytopenia, Macrocytic a... OMIM:275350
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Neutropenia, Anemia OMIM:619835
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... ORPHA:98850
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Complete Androgen Insensitivity Syndrome
Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Increased serum testosterone level, Ab... ORPHA:99429
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... ORPHA:2585
Immunodeficiency With Hyper-Igm, Type 1
Impaired Ig class switch recombination, Increased circulating IgA level, Hemolytic anemia, Neutro... OMIM:308230
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Elevated circulating follicle... OMIM:612965
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:572
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly, Abnormal autonomic nervous system physiology ORPHA:85447
Androgen Insensitivity Syndrome
Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of... ORPHA:754
Aregenerative Anemia
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... ORPHA:101096
Letterer-Siwe Disease
Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:246400
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Premature Ovarian Failure 7
Premature ovarian insufficiency, Primary amenorrhea, Clitoral hypertrophy, Elevated circulating f... OMIM:612964
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Hypoplasia of the uter... OMIM:614837
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, ... OMIM:304790
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Testicular Agenesis
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... ORPHA:325124
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal a... OMIM:613470
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Splenomegaly, Azoospermia, I... OMIM:235200
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Polymicrogyria, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:614520
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Kimura Disease
Eosinophilia ORPHA:482
Indolent Systemic Mastocytosis
Mastocytosis, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Splenomegaly ORPHA:98848
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Decreased circul... OMIM:601495
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... OMIM:603909
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu... ORPHA:158061
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Say-Barber-Miller Syndrome
Impaired neutrophil chemotaxis, Decreased circulating IgG level, Transient hypogammaglobulinemia ... ORPHA:3132
Neonatal Lupus Erythematosus
Aplastic anemia, Hemolytic anemia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly, Neutropenia ORPHA:398124
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Patent foramen ovale, ... OMIM:618652
Pgm3-Cdg
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Leukopenia... ORPHA:443811
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:1959
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... OMIM:618117
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Neutrophilia, Monocytosis OMIM:619644
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Neutropenia ORPHA:292
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... OMIM:617442
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Propionic Acidemia
Thrombocytopenia, Neutropenia, Pancytopenia, Anemia OMIM:606054
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Anemia, Thrombocytopenia, Agammaglobulinemia, Neutropenia ORPHA:47
Chediak-Higashi Syndrome
Giant neutrophil granules, Leukopenia, Hemophagocytosis, Anemia, Impaired neutrophil bactericidal... OMIM:214500
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Normochromic anemia OMIM:614857
46,Xy Sex Reversal 10
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... OMIM:616425
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... OMIM:308700
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Cyclic Neutropenia
Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cyclic neutropenia, ... ORPHA:2686
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... OMIM:618052
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia, Agammaglobulinemia OMIM:209920
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Leukopenia, Neutropenia OMIM:251000
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:520
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Neutrop... OMIM:613989
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Abnormal natural killer cell count, Thrombocytopenia, Pancytopenia, Spl... ORPHA:158048
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... OMIM:308750
Felty Syndrome
Anemia, Bone marrow hypocellularity, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... ORPHA:47612
Barth Syndrome
Hypochromic microcytic anemia, Cyclic neutropenia, Granulocytopenia, Neutropenia OMIM:302060
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
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
Autosomal Agammaglobulinemia
Neutropenia, Agammaglobulinemia ORPHA:33110
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Neutropenia, Pancytopenia, Anemia OMIM:251110
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:614700
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:614129
Immunodeficiency 23
Hemolytic anemia, Abscess, Increased circulating IgE level, Lymphopenia, Increased circulating Ig... OMIM:615816
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Anemia, Reduced natural killer cell activity, Thrombocytopenia, Decreased circu... ORPHA:540
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the fallopian tube, Primary ameno... OMIM:158330
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Lymphopenia, Neutropenia OMIM:616395
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... ORPHA:251510
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Hemolytic anemia, Impaired oxidative burst, Abscess, Granuloma, Lymphopenia, ... OMIM:618935
Ovarian Dysgenesis 5
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:617690
Schimke Immunoosseous Dysplasia
Abnormal immunoglobulin level, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia, ... OMIM:242900
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90796
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, Reticulocytopenia, Thrombocytopenia... ORPHA:508542
46,Xx Sex Reversal 2
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... OMIM:278850
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Decreased circulating follicle stimulating hormone concentration, Decre... OMIM:614842
Wells Syndrome
Eosinophilia ORPHA:901
Congenitally Uncorrected Transposition Of The Great Arteries
Maternal diabetes, Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, A... ORPHA:860
Attrv122I Amyloidosis
Left ventricular hypertrophy, Cardiac amyloidosis, Abnormal autonomic nervous system physiology, ... ORPHA:85451
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Reduced natura... OMIM:608233
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventric... ORPHA:324410
Agammaglobulinemia, X-Linked
Decreased circulating total IgM, Anemia, Neutropenia, Decreased circulating IgA level, Decreased ... OMIM:300755
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Fanconi Anemia, Complementation Group E
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:600901
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia ORPHA:445038
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Anemia, Bone marrow hypocellularity, Lymphopenia, Impa... ORPHA:1830
Aspergillosis
Increased circulating IgE level, Neutropenia, Eosinophilia ORPHA:1163
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Hypoplasia of the thymus, Intermittent thrombocytopenia, Leukopenia, Anemia, ... OMIM:612541
Shwachman-Diamond Syndrome 1
Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Acute myeloid l... OMIM:260400
Kasabach-Merritt Syndrome
Reticulocytosis, Microangiopathic hemolytic anemia, Leukopenia, Anemia, Thrombocytopenia, Neutrop... ORPHA:2330
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Thrombocytopenia, Acute l... ORPHA:3226
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Neutropenia, Pancytopenia, Anemia OMIM:251100
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Anemia, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:277380
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Aplasia of the uterus, Hydrocele testis OMIM:266810
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Thrombocytopeni... OMIM:617303
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Splenomegaly, Infertility, E... ORPHA:465508
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Lymphopenia, Macrocytic anemi... OMIM:250250
Fanconi Anemia, Complementation Group A
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:227650
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Ambiguous genitalia, Atrial septal defect, Tetralogy of Fallot, Ventricul... OMIM:618280
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Leukocyte Adhesion Deficiency
Leukocytosis, Polycythemia, Bone marrow hypocellularity, Impaired neutrophil chemotaxis, Abnormal... ORPHA:2968
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy OMIM:614702
Wolfram Syndrome 1
Testicular atrophy, Diabetes mellitus, Cardiomyopathy, Diabetes insipidus, Hypothyroidism, Optic ... OMIM:222300
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytop... OMIM:615952
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Neutropenia, I... OMIM:617052
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia OMIM:609053
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hepatosplenomegaly, Hemophagocytosis, Abnormal platelet function, Anemia,... ORPHA:167
Meacham Syndrome
Situs inversus totalis, Conotruncal defect, Cryptorchidism, Hypoplastic left heart, Ambiguous gen... ORPHA:3097
Poikiloderma With Neutropenia
Neutropenia, Leukopenia, Splenomegaly OMIM:604173
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:289548
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:168558
Myotonic Dystrophy 1
Cholelithiasis, Facial diplegia, Testicular atrophy, Hypogonadism OMIM:160900
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Perrault Syndrome 4
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... OMIM:615300
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, Neutropenia OMIM:616271
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia ORPHA:79284
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Ventricular hypertrophy, H... OMIM:300280
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Decrease... OMIM:202010
Fanconi Anemia, Complementation Group C
Anemia, Leukemia, Bone marrow hypocellularity, Reticulocytopenia, Thrombocytopenia, Pancytopenia,... OMIM:227645
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Abnormality of B cell physiology, Pure red ... OMIM:613179
Fixed Subaortic Stenosis
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... ORPHA:3092
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Mogs-Cdg
Hepatosplenomegaly, Inappropriate antidiuretic hormone secretion, External genital hypoplasia, Le... ORPHA:79330
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Liver abscess, Anemia ORPHA:54251
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right atrial... ORPHA:555874
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Mulibrey Nanism
Myocardial fibrosis, Cardiomegaly, Hepatomegaly, Pericardial constriction OMIM:253250
Sepsis In Premature Infants
Leukocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:90051
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia OMIM:607115
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Vici Syndrome
Leukopenia, Decreased circulating IgG2 level, Cutaneous anergy, Neutropenia, Lymphopenia, Gray ma... OMIM:242840
Vaginal Atresia
Uterus didelphys, Cervicitis, Primary amenorrhea, Imperforate hymen, Transverse vaginal septum, V... ORPHA:65681
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Reticulocytopenia, Hypoplastic anemia, Sideroblastic ane... OMIM:557000
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Fusariosis
Lung abscess, Granuloma, Lymphopenia, Abnormality of the spleen, Brain abscess, Neutropenia ORPHA:228119
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defe... OMIM:115197
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Hypothyroidism, Cardiomegaly OMIM:601005
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Anemia, Lymphopenia, Micr... ORPHA:906
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular hypertrophy OMIM:619051
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Neutrophilia, Inc... OMIM:617099
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Eosinophilia OMIM:147060
Lumbar Syndrome
Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid uterus, Bifid sc... ORPHA:83628
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... OMIM:617237
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... OMIM:615363
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia OMIM:607944
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgE level, Autoimmune... ORPHA:37042
Whim Syndrome
Abnormality of neutrophil morphology, Neutropenia, Lymphopenia, Decreased circulating antibody level ORPHA:51636
Neuraminidase Deficiency
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:256550
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... ORPHA:3261
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Neutrophilia ORPHA:91547
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Hypospadias OMIM:616897
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... ORPHA:2041
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... ORPHA:124
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Granulomatosis, Impaired oxidative burst, Rectal abscess, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Granulomatosis, Impaired oxidative burst, Rectal abscess, Splenomegaly OMIM:233710
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Eosinophilia, Thrombocytopenia, B lym... OMIM:603554
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Granulomatosis, Impaired oxidative burst, Rectal abscess, Splenomegaly OMIM:233690
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, Fused labia majora, Inc... ORPHA:90794
Fanconi Anemia, Complementation Group D2
Anemia, Leukemia, Bone marrow hypocellularity, Reticulocytopenia, Thrombocytopenia, Pancytopenia,... OMIM:227646
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Primary amenorrhea, Hypoparathyroidism, Septate vagina, Pseudopapilledema, Uterus didelphys, Apla... OMIM:146255
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno... ORPHA:2442
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Diabetes mellitus, Hypoparathyroidism, Abnormal heart morphology, Septate... ORPHA:2237
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia ORPHA:169160
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Hereditary Folate Malabsorption
Thrombocytopenia, Pancytopenia, Megaloblastic anemia, Eosinophilia ORPHA:90045
Hsd10 Disease, Infantile Type
Cardiomegaly, Optic atrophy, Hypertrophic cardiomyopathy ORPHA:391428
Leigh Syndrome
Neutropenia, Anemia ORPHA:506
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Shawl scrotum, Testicular atrophy, Elevated circulating follicle... OMIM:305400
Isolated Right Ventricular Hypoplasia
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... ORPHA:439
Cohen Syndrome
Neutropenia ORPHA:193
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Hypothyroidism, Cardiomegaly OMIM:617713
Khan-Khan-Katsanis Syndrome
Neutropenia, Lymphopenia, Anemia OMIM:618460
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Hepatosplenomegaly, Micropenis, Pulmonic stenosis, Atrial septal defect, V... OMIM:602782
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Hepatome... ORPHA:96191
Toxic Epidermal Necrolysis
Thrombocytopenia, Neutropenia, Anemia ORPHA:537
Glycogen Storage Disease Ib
Splenomegaly, Neutropenia OMIM:232220
Rothmund-Thomson Syndrome
Leukemia, Neutropenia, Aplastic anemia, Anemia ORPHA:2909
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Omenn Syndrome
Leukocytosis, Anemia, Abnormal lymphocyte morphology, Eosinophilia, Splenomegaly ORPHA:39041
Trichothiodystrophy
Neutropenia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Anemia ORPHA:33364
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... ORPHA:1457
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating total IgM, Decreased ... ORPHA:331235
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Abnormal autonomic nervous system physiology, Impotence, Orthostatic hypotension ... OMIM:105210
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Granulomatosis, Impaired oxidative burst, Granuloma, Rectal abscess, Splenomegaly OMIM:306400
Rothmund-Thomson Syndrome Type 1
Leukemia, Neutropenia, Aplastic anemia, Anemia ORPHA:221008
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Impotence, Orthostatic hypotension, Cardiomegaly OMIM:268800
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Leukocytosis, Splenomegaly ORPHA:829
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level ORPHA:723
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Eosinophilia, B lymphocytopenia, Abnormally low T cell recept... OMIM:602450
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... ORPHA:911
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Ventricular septal defect, Atriove... OMIM:306955
Rothmund-Thomson Syndrome Type 2
Leukemia, Neutropenia, Aplastic anemia, Anemia ORPHA:221016
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Neutropenia, Anemia ORPHA:175
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Cryptorchidism, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepat... OMIM:130650
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly ORPHA:99931
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukocytosis, Leukopenia ORPHA:36238
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... OMIM:157640
Sickle Cell Disease
Hepatomegaly, Priapism, Cholelithiasis, Cardiomegaly, Splenomegaly OMIM:603903
Craniofaciofrontodigital Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, Bicuspid aortic... ORPHA:363705
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatosplenomegaly, Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibo... ORPHA:228426
Kikuchi-Fujimoto Disease
Leukopenia, Anemia, Thrombocytopenia, Lymphocytosis, Splenomegaly, Neutropenia ORPHA:50918
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Pearson Syndrome
Hypoplastic spleen, Reticulocytosis, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancy... ORPHA:699
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Optic atrophy OMIM:619259
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Cirrhotic Cardiomyopathy
Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... ORPHA:57777
Woodhouse-Sakati Syndrome