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Gene: Serpini2 MGI:1915181

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
serine (or cysteine) peptidase inhibitor, clade I, member 2
Synonyms:
1810006A24Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Serpini2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Serpini2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B lymp... OMIM:619164
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Short stature, Steatorrhea, Neutropenia OMIM:618752
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux... OMIM:608971
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, T lymphocytopenia, B lympho... OMIM:619313
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Failure to th... OMIM:612714
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Failure to thrive, Abnormal natu... OMIM:615617
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Celiac disease, Neutrope... OMIM:615952
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Chronic diarrhea, T lym... OMIM:300400
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorpt... ORPHA:309108
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... OMIM:617241
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Wolcott-Rallison Syndrome
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Short stature, Jaundice, Neutropenia,... ORPHA:1667
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, L... OMIM:603554
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Short stature, Hyperechogenic pancreas, Diarrhea, Steatorrhea, H... OMIM:617941
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Absence of lymph node germinal center, Diarrhea, T lymphocytopenia, B lymphocytopeni... ORPHA:277
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly OMIM:616622
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Gastroesophageal reflux OMIM:615401
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Short stature, Ste... OMIM:260400
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Jaundice, Extrahepat... ORPHA:1333
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Failure to thrive OMIM:613501
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Hyperechogenic pancreas, Pa... OMIM:617052
Johanson-Blizzard Syndrome
Diabetes mellitus, Short stature, Malabsorption, Abnormality of the pancreas, Anteriorly placed a... ORPHA:2315
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Diarrhea, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infectio... OMIM:601457
Mirage Syndrome
Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Cryptorchidism, Esophageal str... OMIM:617053
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Immunodeficiency 57 With Autoinflammation
Gastritis, Perianal abscess, Diarrhea, T lymphocytopenia, Inflammation of the large intestine, B ... OMIM:618108
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... OMIM:243150
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Chron... OMIM:300972
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Neutropenia, Lymphadenopathy, B lymphocy... OMIM:150550
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Villous atrophy... OMIM:557000
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Macronodular cir... OMIM:620005
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati... OMIM:619418
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Growth delay, T lymphocytopenia,... OMIM:619510
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i... ORPHA:397596
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic horm... OMIM:609981
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Hepatosplenomegaly, T lymphocytopenia... OMIM:242700
Immunodeficiency 36 With Lymphoproliferation
Short stature, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Chronic lymphatic leukemia, Grow... OMIM:616005
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Failure to thrive OMIM:269840
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen, Dysphagia ORPHA:89844
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... ORPHA:543
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Decreased proportion of class-switched memory B cells, Growth delay, Inflammatio... OMIM:615767
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Diarrhea, Neutropenia in presence of anti-neutropil antibodies, Decre... OMIM:607594
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pan... ORPHA:456312
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Cleft palate, Leukopenia... OMIM:620210
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Short stature, Anterior pituitary hypoplasia, D... OMIM:619004
Immunodeficiency 95
Lymphopenia OMIM:619773
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Severe short stature, B lymphocytopenia OMIM:619851
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Gracile Bone Dysplasia
Short stature, Asplenia, Hypoplastic spleen, Failure to thrive, Ankyloglossia OMIM:602361
Immunodeficiency 70
Celiac disease, Colitis, B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:618969
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Monocytosis, Inflammation of the large intestine, C... OMIM:619281
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... OMIM:301078
Immunodeficiency 9
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to... OMIM:612782
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia ORPHA:3204
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Rauch-Steindl Syndrome
Hepatomegaly, Short stature, Postnatal growth retardation, Chronic constipation, Intrauterine gro... OMIM:619695
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Weight loss, Growth delay, Iron deficiency anemia, Colitis, Steatorrhea, Exocrine pancr... ORPHA:309031
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla... OMIM:615935
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Anal canal squamous carcinoma ORPHA:217390
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... OMIM:619375
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... OMIM:606367
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Steatorrhea, Macroglossia, High palate, Hypoplastic... OMIM:618268
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop... OMIM:612541
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Malabsorption, Cryptorchidism, Hypohidrosis, Exocrine pancreatic insuffici... ORPHA:452
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Intrauterine growth retardat... OMIM:615966
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic diarrhea, T ly... OMIM:615607
Ataxia-Telangiectasia
Failure to thrive, Diabetes mellitus, Female hypogonadism, Short stature, Chronic diarrhea, Acute... OMIM:208900
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation... OMIM:616263
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Malabsorption, Cirrhosis, Failure to thrive, Exocrine pancreatic insuffi... OMIM:616539
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Anal fissure, Perianal abscess, Spl... OMIM:618935
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Small for gestational age, Gastritis, Increased mean platelet volu... ORPHA:84064
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Biliary cirrhosis, Hepatosplenome... OMIM:219700
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Malabsorption OMIM:152800
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Immunodeficiency 40
Hepatomegaly, Rectal fistula, Chronic diarrhea, Eosinophilic granuloma, Growth delay, T lymphocyt... OMIM:616433
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Protruding tongue, Malabsorption, Diarrhea, Macroglossia, T lymphocytopenia, Failu... OMIM:242860
Ataxia-Telangiectasia
Lymphopenia, Diabetes mellitus, Short stature, Abnormal testis morphology, Polycystic ovaries, Ty... ORPHA:100
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Failure to thrive, Decreased proport... OMIM:618048
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Villous atrophy, Short stature, Splenomegaly, Secretory diarrhea... OMIM:616050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, High palate, Diarrhea, B lymphocytopenia OMIM:614069
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count, Chronic diarrhea OMIM:615592
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Diarrhea, Hepatitis, Hepatosplenomegaly, Protracted diarrhea, Failure to thrive sec... ORPHA:169160
Immunodeficiency 44
Lymphopenia OMIM:616636
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Chronic neutropenia, Villous atrop... OMIM:614700
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lymphocytosis, Vo... OMIM:619991
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... OMIM:167800
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of class-switched... OMIM:619652
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Hypoplasia... OMIM:214110
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di... OMIM:619705
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Noonan Syndrome 12
Anteriorly placed anus, Lymphopenia, Decreased response to growth hormone stimulation test, Throm... OMIM:618624
Cystinosis, Nephropathic
Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Short stature, Oral-pharyngeal dys... OMIM:219800
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... OMIM:611926
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Hepatomegaly, Jaundice, Di... ORPHA:276
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Growth delay... OMIM:614034
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Colitis, Decreased basophil cou... OMIM:618394
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Growth delay, H... OMIM:618500
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... OMIM:613011
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen... OMIM:616100
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Atypical or prolonge... ORPHA:83471
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Diarrhea, Lymphadenopat... OMIM:617827
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Malabsorption ORPHA:1116
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Vomiting,... OMIM:617780
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellulari... OMIM:615190
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Intestinal malrotation, Hepatitis, Bloody diarrhea, Intestinal atres... ORPHA:436252
Hypoglossia With Situs Inversus
Asplenia, Microglossia, High palate, Polysplenia OMIM:612776
Acitretin/Etretinate Embryopathy
High palate, Hypoplasia of the thymus, Median cleft palate ORPHA:40366
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Esophageal varix, Growth delay, H... OMIM:617341
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Lactose intolerance, Abnormal proportion of CD8-positive T c... ORPHA:443811
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Protracted diarrhea OMIM:610163
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Recurrent tonsilliti... ORPHA:2686
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Large for gestational age, Splenomegaly, Cryptorchidism,... ORPHA:116
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... OMIM:603909
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level, ... OMIM:619767
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, T lymphocytopenia, Short stature, Autoimmune thrombocytopenia, Abnormality of th... ORPHA:391487
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... ORPHA:2688
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Hematemesis, Thrombocytopeni... ORPHA:906
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Intestinal malrotation, Neonatal insulin-dependent ... ORPHA:2255
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Increased T cell count, Chronic diarrhea,... ORPHA:98813
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Isolated Anencephaly
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... ORPHA:227990
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ... OMIM:616084
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid... ORPHA:227982
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Diarrhea, Hepatitis, Melena, Leukopenia, Vomitin... ORPHA:319218
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Intrauterine growth r... OMIM:601186
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Small for gestational age, Hypergonadotropic hypogonadism, Short statur... ORPHA:2959
Lethal Congenital Contracture Syndrome 10
Narrow palate, Macroglossia, High palate, Hypoplasia of the thymus, Intrauterine growth retardation OMIM:617022
Pancreatic insufficiency, combined exocrine
Anal atresia, Exocrine pancreatic insufficiency OMIM:260450
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, High palate, Ly... OMIM:605309
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Chronic diarrhea, Weight loss, Abnormal lymphatic vessel morphology, Growth ... ORPHA:90362
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature, Duodenal atresia ORPHA:3004
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Johanson-Blizzard Syndrome
Anteriorly placed anus, Hepatic fibrosis, Hypothyroidism, Hepatomegaly, Short stature, Portal hyp... OMIM:243800
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... OMIM:613179
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Neutro... OMIM:616395
Icf Syndrome
Short stature, Abnormality of neutrophils, Protruding tongue, Malabsorption, Macroglossia, Lympho... ORPHA:2268
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Diarrhea, Acute lymphoblastic leukemia, Mo... ORPHA:486
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, B lymphocytopenia, Rectal abscess, Neutropenia, Failure to thrive OMIM:601495
Orofaciodigital Syndrome Type 1
Hamartoma of tongue, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Lobulated tongu... ORPHA:2750
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Failure to thrive, Thrombocytop... OMIM:617591
Sneddon Syndrome
Lymphopenia OMIM:182410
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, Decreased resp... ORPHA:293978
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str... ORPHA:1572
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Pyloric stenosis, Jaundice, Hypothyroidism, Aplasia/Hypoplasia of the pancreas... ORPHA:93111
Cystic Fibrosis
Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the liver, Gastroesophageal reflux... ORPHA:586
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Eosinophilic infiltration of the esophagus, Growth delay, Decreased proportion of C... OMIM:243700
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Chronic diarrhea, T lymphocytopenia, Lymph node ... OMIM:300755
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Abnormality of thyroid physiology, Short stature, T... ORPHA:1830
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, B lymp... ORPHA:508542
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Short stature, Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Diar... OMIM:307200
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Short stature ORPHA:391307
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Decreased ... OMIM:240300
Legionnaires Disease
Splenomegaly, Jaundice, Diarrhea, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lympho... ORPHA:549
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
High palate, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Perianal abscess, Diarrhea, Weight loss, Iron deficiency anemia, Inflammation ... OMIM:301074
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... OMIM:619381
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Mild postnatal growth... OMIM:224120
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Exocrine pancreatic insufficiency ORPHA:508498
Alagille Syndrome 1
Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ducts, Papillary thyro... OMIM:118450
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Growth delay, Hypoplasia... OMIM:613177
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... ORPHA:760
Glycogen Storage Disease Ixc
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct proliferation, ... OMIM:613027
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Maturity-onset diabetes of the young, Biliary tract abnormality, Pancreatic hy... OMIM:137920
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Infancy onset short-trunk short stature... ORPHA:508488
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga... OMIM:250250
Vici Syndrome
Failure to thrive, Postnatal growth retardation, Cleft palate, Dysphagia, Leukopenia, T lymphocyt... OMIM:242840
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Recurrent aphthous stomatitis, Neutropenia OMIM:614868
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Anal stenosis, Short stature, Diarrhea, Cleft palate, T lymphocytope... OMIM:251260
Autoimmune Lymphoproliferative Syndrome
Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg... ORPHA:3261
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... ORPHA:288
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... ORPHA:210122
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Fa... OMIM:615934
Fraser Syndrome 2
Rectal atresia, Hypoplasia of the thymus, Intestinal malrotation, Anal atresia OMIM:617666
Reni Syndrome
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Lymphopenia, Hypothyroidism OMIM:617575
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... ORPHA:79303
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Gastroesophageal reflux, Hypothyroidism, Hypoparathyroidism, Hyperthyro... ORPHA:567
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Po... ORPHA:83617
Spondyloenchondrodysplasia With Immune Dysregulation
Short stature, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymp... OMIM:607944
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Elevated circulating thyroid-s... OMIM:242900
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Digeorge Syndrome
Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Splenomegal... OMIM:188400
Treacher-Collins Syndrome
Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glossoptosis, Abnormality of the adrenal... ORPHA:861
Eec Syndrome
Short stature, Decreased response to growth hormone stimulation test, Xerostomia, Cleft palate, H... ORPHA:1896
Immunodeficiency 22
Abscess, Diarrhea, Protracted diarrhea, Anemia, Decreased proportion of CD4-positive helper T cel... OMIM:615758
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Hepatic cysts, Disproportionate short stature, Lymphopenia, Anal atresia OMIM:617425
Acute Radiation Syndrome
Diarrhea, Vomiting, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... OMIM:127550
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hamartomatous polyposis, Ovar... OMIM:158350
Gaisböck Syndrome
Diabetes mellitus, Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin ... ORPHA:90041
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Eosinophilia, Abscess, Esophageal stricture, High palate, Ne... OMIM:615816
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Hyperparathyroidism, Anemia OMIM:620366
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Diarrhea, Increased body... ORPHA:79240
Generalized Pustular Psoriasis
Overweight, Leukocytosis, Obesity, Lymphopenia, Geographic tongue ORPHA:247353
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Pediatric Systemic Lupus Erythematosus
Diarrhea, Lymphadenopathy, Leukopenia, Vomiting, Microangiopathic hemolytic anemia, Lymphopenia, ... ORPHA:93552
Avian Influenza
Diarrhea, Hepatitis, Leukopenia, Vomiting, Lymphopenia, Thrombocytopenia ORPHA:454836
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus, Cleft palate OMIM:619123
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Short stature, Cryptorchidism, Truncal obesity, Disproportionate short-limb sh... OMIM:616541
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Short stat... OMIM:616113
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Esophageal varix, He... OMIM:615688
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr... ORPHA:228119
Microsporidiosis
Brain abscess, Cholangitis, Cachexia, Nausea, Abnormality of the spleen, Abnormality of the parat... ORPHA:2552
Isotretinoin-Like Syndrome
Postnatal growth retardation, Cleft palate, Gastroesophageal reflux, Intrauterine growth retardat... ORPHA:2306
Primary Ciliary Dyskinesia
Asplenia, Intestinal malrotation, Polysplenia ORPHA:244
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hyperhidrosis, Hepatosplenomegaly, High palate ORPHA:96123
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis... OMIM:613471
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Diarrhea, Abnormal T cell subset distribution, Gastroesophageal reflux, B lymphocytopenia, Decrea... ORPHA:221139
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Disproportionate short stature, Hyper... ORPHA:508533
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism, Velopharyngeal insufficiency, High palate, Gastroesophageal r... OMIM:617746
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Intestinal malrotation, Polysplenia OMIM:605376
Noonan Syndrome 14
Short stature, High, narrow palate, Cryptorchidism, Hyperhidrosis, Lymphopenia OMIM:619745
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Mosaic Trisomy 9
Intestinal malrotation, Asplenia, Cryptorchidism, Cleft palate, High palate, Abnormal liver lobul... ORPHA:99776
Whim Syndrome
Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, ... ORPHA:51636
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Intestinal malrotation, Cryptorchidism, B lymphocyt... ORPHA:79324
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia, Absent uvula, ... OMIM:619708
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Tracheoesophageal fistula, High ... OMIM:164280
Lujo Hemorrhagic Fever
Leukocytosis, Fulminant hepatitis, Diarrhea, Hyperhidrosis, Leukopenia, Vomiting, Dysphagia, Lymp... ORPHA:319213
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, High palate, Intestinal malrotation, Short stature OMIM:619657
Hennekam Syndrome
Mild postnatal growth retardation, Malabsorption, Splenomegaly, Pyloric stenosis, Pulmonary lymph... ORPHA:2136
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Malabsorption, Celiac disease, Chronic diarrhea, I... ORPHA:90363
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Short stature, Cryptorchidism, Dysphagia, Hypoplasia of the thymus, In... OMIM:264090
Khan-Khan-Katsanis Syndrome
Lymphopenia, Short stature, Dysphagia, Neutropenia, Intrauterine growth retardation, Failure to t... OMIM:618460
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Cryptorchidism... ORPHA:564
Truncus Arteriosus
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... ORPHA:99889
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Short stature, Hypothyroidism, Congenit... OMIM:620186
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Nausea, Orchitis, Jaundice, Diarrhea, Neutrophilia in presence of i... ORPHA:99826
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Parotitis, Xerostomia, Biliary cirrhosis, Thyroiditi... ORPHA:289390
Meckel Syndrome, Type 1
Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Adrenal hypop... OMIM:249000
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Posteriorly placed anus, Biliary atresia, Abdominal situs inversus, Polys... OMIM:306955
Tetraamelia Syndrome 1
Asplenia, Anal atresia, Adrenal gland agenesis, Cleft palate OMIM:273395
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage... OMIM:265380
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism, High palate, Short stature ORPHA:221120
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Asplenia, Abdominal situs inversus, Intrauterine growth retardation, Abdo... OMIM:270100
Charge Syndrome
Hypoparathyroidism, Anal stenosis, Hypogonadotropic hypogonadism, Decreased response to growth ho... OMIM:214800
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... ORPHA:744
Mowat-Wilson Syndrome
Aganglionic megacolon, Short stature, Bowel incontinence, Asplenia, Pyloric stenosis, Cryptorchid... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Short stature, Bowel incontinence, Asplenia, Pyloric stenosis, Cryptorchid... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Short stature, Bowel incontinence, Asplenia, Pyloric stenosis, Cryptorchid... ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Serpini2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Serpini2.

No publications found that use IMPC mice or data for Serpini2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Serpini2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Serpini2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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