Gene Summary

Name:
coiled-coil domain containing 88B
Synonyms:
2610041P08Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
polycystic kidney Ccdc88bem1(IMPC)Tcp HOM Early adult 0.00
decreased leukocyte cell number Ccdc88bem1(IMPC)Tcp HOM Early adult 4.67×10-07
decreased fasting circulating glucose level Ccdc88bem1(IMPC)Tcp HOM   Early adult 2.24×10-05
enlarged lymph nodes Ccdc88bem1(IMPC)Tcp HOM Early adult 0.00
decreased lymphocyte cell number Ccdc88bem1(IMPC)Tcp HOM Early adult 6.97×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

97 Images

Gross Pathology and Tissue Collection

Images

10 Images

Eye Morphology

Images Slit Lamp

6 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Ccdc88b 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 Ccdc88b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Decreased proportion of CD3-positive T... OMIM:615615
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... OMIM:614493
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD4-positive helper T cells, Decreased circulating ... OMIM:312863
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte... OMIM:242870
Immunodeficiency 40
Lymphopenia OMIM:616433
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Recurrent gastroenteritis, Autoimmune hemolytic ane... OMIM:615607
RCAD (renal cysts and diabetes)
Multiple renal cysts, Diabetes mellitus DECIPHER:47
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent respiratory infections, Absence of CD8-positive T cells, Re... OMIM:608957
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Decreased proportion of CD4-positive helper T cells, Neonatal sepsis, Neutropenia,... ORPHA:169154
Immunodeficiency 8
Lymphopenia OMIM:615401
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibod... OMIM:300853
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,... ORPHA:169079
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Lymphocytosis, Decreased proportion of CD8-positive T cells, ... ORPHA:911
Immunodeficiency 50
Lymphopenia, Recurrent urinary tract infections, Neutropenia OMIM:300988
Immunodeficiency 19
Lymphopenia OMIM:615617
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Lymphopenia, Plasmacytosis OMIM:247800
Bardet-Biedl Syndrome 6
Hypospadias, Diabetes mellitus, Renal cyst OMIM:605231
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infections, Abnorma... ORPHA:276
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Recurrent otitis media, Increased circulating IgG level, Recurre... OMIM:618982
Immunodeficiency 13
T lymphocytopenia, Recurrent upper respiratory tract infections, Lymphopenia, Decreased proportio... OMIM:615518
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Decreased cir... OMIM:617514
Campomelia, Cumming Type
Polysplenia, Polycystic kidney dysplasia OMIM:211890
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... OMIM:263200
Selective Igm Deficiency
Cutaneous abscess, Decreased specific antibody response to vaccination, Recurrent urinary tract i... ORPHA:331235
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Increased circulating IgE level, Recurrent... ORPHA:277
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helper T cells, ... ORPHA:572
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... OMIM:145001
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating I... OMIM:300400
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Recurrent en... ORPHA:331206
Immunodeficiency 25
Recurrent herpes, T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE l... OMIM:610163
Femoral-Facial Syndrome
Maternal diabetes, Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Rena... ORPHA:1988
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Nephropathy, Renal cyst, Chronic kidney disease,... OMIM:617056
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chr... OMIM:613095
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Hypogly... OMIM:231680
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Polycystic kidney dysplasia OMIM:608776
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, Recurrent bacterial skin infections, Recurren... ORPHA:217390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Transcobalamin Deficiency
Acute kidney injury, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, Methylmalonic acid... ORPHA:859
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Mu-Heavy Chain Disease
Nephropathy, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia OMIM:600666
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Absent natural killer cells, Chronic oral ... ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Recurrent upper respiratory tra... OMIM:600802
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia OMIM:617866
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:275
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hypoketotic hypoglyce... ORPHA:157
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Polysplenia, Renal dysplasia, Ureteral atresia, Asplenia, Polycystic kidney dysp... OMIM:208540
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Nonketotic hypoglycemia, Hydronephrosis, Polycystic kidney dysplasia, Long-chain... OMIM:608836
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Sepsis, Abnormal serum interleukin level, Abnormality of tum... ORPHA:70578
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Splenic cyst, Renal cyst, Polycystic kidney dysplasia, Splenomegaly, Diabetes mellitus OMIM:610199
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recu... OMIM:209920
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Increased serum interferon-gamma level, Decreased circulating antibody level, A... ORPHA:540
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Acute Lung Injury
Increased circulating interleukin 6, Sepsis, Abnormality of serum cytokine level, Abnormality of ... ORPHA:178320
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hypoketotic hypoglyce... ORPHA:228308
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Renal steatosis, Renal dysplasia,... OMIM:113650
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Glutaric aciduria, 3-Methylglutaric aciduria, Hypoglycemia, Polycystic kidney dys... ORPHA:26791
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Polycystic kidney dysplasia, Aminoaciduria OMIM:214110
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Chronic oral candidia... OMIM:150550
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hypospadias, Renal cyst, Polycystic kidney dysplasia OMIM:614091
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gr... OMIM:618935
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Pgm3-Cdg
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Neutropenia, Increased ci... ORPHA:443811
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis, Nephropathy ORPHA:3033
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Caroli Syndrome
Leukocytosis, Liver abscess, Thrombocytopenia, Polycystic kidney dysplasia, Leukopenia, Hypersple... ORPHA:480520
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Trisomy 17P
Urethral valve, Urethral stenosis, Hydronephrosis, Polycystic kidney dysplasia, Hypoplasia of penis ORPHA:261290
Caroli Disease
Leukocytosis, Liver abscess, Polycystic kidney dysplasia, Splenomegaly ORPHA:53035
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Granulomatous Slack Skin
Abnormality of the lymph nodes, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Distal Tetrasomy 15Q
Horseshoe kidney, Nephroblastoma, Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the... ORPHA:314588
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Lymphopenia, Hypoglycemia, Stage 5 chronic kidney disease, Ne... OMIM:617575
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Sweet Syndrome
Abnormal serum interleukin level, Leukocytosis, Chronic lymphatic leukemia, Abnormality of tumor ... ORPHA:3243
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Diabetes mellitus OMIM:614162
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Syndromic Diarrhea
Thrombocytosis, Renal hypoplasia, Lymphopenia, Increased mean platelet volume, Hypoplasia of the ... ORPHA:84064
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Liver abscess, Anemia, Neutrophilia, Abnormality of the lymphatic syst... ORPHA:54251
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Reticulocytopenia, Leukopenia, Hypospadias, Macrocytic anemia OMIM:612528
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:243910
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Neutropenia, Renal cyst, Infection associated neutropenia, Renal insuffici... ORPHA:445038
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Thrombocytopenia, Oligu... ORPHA:731
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease, Anemia OMIM:266920
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Phelan-Mcdermid Syndrome
Polycystic kidney dysplasia, Vesicoureteral reflux, Abnormality of the kidney OMIM:606232
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst OMIM:617874
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Anemia, Splenomegaly, Hepatosplenomegaly, Abnormality... OMIM:612840
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Maturity-onset diabetes of the young, Glucose intolerance, Decreased n... OMIM:137920
Cyclic Neutropenia
Recurrent tonsillitis, Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, ... ORPHA:2686
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Recurrent respiratory infections OMIM:615758
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Ataxia-Telangiectasia
Lymphopenia, Diabetes mellitus, Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus ORPHA:100
Short Rib-Polydactyly Syndrome
Nephronophthisis, Urogenital sinus anomaly, Polycystic kidney dysplasia, Hypospadias, Abnormality... ORPHA:1505
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Hemochromatosis, Type 3
Lymphopenia, Neutropenia, Anemia OMIM:604250
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Vesicoureteral reflux, Ectopic kidney, Polycystic kidney dy... ORPHA:96149
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Renal cyst, Ureteral agenesis OMIM:236500
Tuberous Sclerosis Complex
Renal angiomyolipoma, Renal cell carcinoma, Chronic kidney disease, Renal cyst, Stage 5 chronic k... ORPHA:805
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Abnormality of the ureter, Asplenia, Polycystic kidn... OMIM:249000
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis OMIM:614175
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
15q26 overgrowth syndrome
Horseshoe kidney, Vesicoureteral reflux, Duplication of renal pelvis, Hydronephrosis, Polycystic ... DECIPHER:81
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Hy... ORPHA:1834
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Decreased specific antibody response to va... ORPHA:221139
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Hematuria, Lymphopenia, Abnormality of the urinary system, Dar... ORPHA:93552
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Joubert Syndrome 20
Renal cyst OMIM:614970
22Q11.2 Deletion Syndrome
Multiple renal cysts, Renal hypoplasia, Hypoplasia of the thymus, Thrombocytopenia, Vesicouretera... ORPHA:567
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Vici Syndrome
Cutaneous anergy, Recurrent fungal infections, Decreased proportion of CD4-positive helper T cell... OMIM:242840
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Asplenia, Enlarged kidney OMIM:615415
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly, Lymphadenopathy OMIM:616100
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydronephrosis, Polycystic kidney dysplasia, Hydroureter OMIM:236700
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts ORPHA:1166
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Polycystic kidney dysplasia, Abnormality of the ureter OMIM:200980
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis OMIM:615287
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Splenome... OMIM:216360
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell m... OMIM:242900
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased prop... ORPHA:760
Mirage Syndrome
Microphallus, Lymphopenia, Recurrent urinary tract infections, Hypoglycemia, Thrombocytopenia, Le... OMIM:617053
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Recurrent bronchitis, Decreased proportion o... OMIM:208900
Prune Belly Syndrome
Urogenital sinus anomaly, Hydroureter, Recurrent urinary tract infections, Abnormality of the ure... ORPHA:2970
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Floating-Harbor Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Congenital posterior ... ORPHA:2044
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Abnormal lymphatic vessel morphology, Abnormal spleen morp... ORPHA:464329
Simpson-Golabi-Behmel Syndrome, Type 2
Micropenis, Multicystic kidney dysplasia OMIM:300209
Roberts Syndrome
Thrombocytopenia, Polycystic kidney dysplasia, Long penis ORPHA:3103
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Abnormal proportion of naive CD4... ORPHA:1830
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:263520
Axial Osteomalacia
Renal cyst OMIM:109130
Femoral-Facial Syndrome
Maternal diabetes, Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Rena... OMIM:134780
Legionnaires Disease
Hematuria, Lymphopenia, Splenomegaly, Renal insufficiency, Bone marrow hypocellularity, Lymphaden... ORPHA:549
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperplasia, Anemia, Leukop... OMIM:615934
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst, Hepatosplenomegaly, Splenomegaly OMIM:614866
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Cystic Echinococcosis
Peritoneal abscess, Membranous nephropathy, Splenic cyst, Renal cyst, Abscess, Eosinophilia ORPHA:400
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
Distal Renal Tubular Acidosis
Hypocitraturia, Hemolytic anemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal pota... ORPHA:18
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormality of the urethra, ... ORPHA:2973
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Renal artery aneurysm, Thrombocytosis, Leukocytosis, Lymphopenia, Pancytopenia, Type I diabetes m... OMIM:615688
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Renal hypoplasia, Lymphopenia, Unilateral renal agenesis, Ectopic kidney, Ane... OMIM:616541
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Anemia, Splenomegaly, Lymphadenopathy OMIM:617591
Secondary Intestinal Lymphangiectasia
Abnormality of the lymphatic system, Lymphopenia ORPHA:90363
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Nephrotic syndrome, Heavy prote... ORPHA:255249
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hypercalciuria, Nephrocalcinosis, Renal cyst OMIM:615398
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Bloom Syndrome
Recurrent herpes, Recurrent tonsillitis, Recurrent gastroenteritis, Decreased circulating total I... ORPHA:125
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Multicystic kidney dy... ORPHA:93111
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasia/aplasia, Diabetes mellitus, U... ORPHA:261265
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Trisomy 13
Displacement of the urethral meatus, Multiple renal cysts, Hydronephrosis, Abnormality of the ureter ORPHA:3378
Joubert Syndrome 14
Renal cyst OMIM:614424
Ulbright-Hodes Syndrome
Renal hypoplasia, Abnormal penis morphology, Maternal diabetes, Polycystic kidney dysplasia ORPHA:3404
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Cystic renal dysplasia, Unilateral renal agenesis, Asplenia, Pelvic kidney, Spl... OMIM:156810
Meckel Syndrome, Type 7
Hepatosplenomegaly, Multiple glomerular cysts, Stage 5 chronic kidney disease, Multicystic kidney... OMIM:267010
Pearson Syndrome
Lacticaciduria, Reticulocytosis, Neutropenia, Glycosuria, Pancytopenia, Thrombocytopenia, Renal c... ORPHA:699
Peutz-Jeghers Syndrome
Multiple renal cysts, Renal cell carcinoma, Anemia, Abnormality of the ureter ORPHA:2869
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Horseshoe kidney, Long penis, Polycystic kidney dysplasia, Hypospadias OMIM:268300
Polysyndactyly With Cardiac Malformation
Renal cyst OMIM:263630
Transketolase Deficiency
Type I diabetes mellitus, Increased level of ribose in urine, Renal cyst ORPHA:488618
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Splenomegaly, Lymphadenopathy ORPHA:1572
Alveolar Echinococcosis
Cutaneous abscess, Abnormal spleen morphology, Renal cyst, Anemia, Abnormality of bladder morphol... ORPHA:284
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Tubulointerstitial fibrosis, Lymphopenia, Neutrop... OMIM:607944
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Renovascular hypertension, Autoimmune hemolytic anemia, Lymphopenia,... ORPHA:391487
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Hydronephrosis OMIM:618454
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Proteinuria OMIM:212065
Kleefstra Syndrome
Vesicoureteral reflux, Renal cyst, Hydronephrosis, Hypospadias, Renal insufficiency, Micropenis, ... ORPHA:261494
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Vacterl/Vater Association
Renal agenesis, Multicystic kidney dysplasia, Abnormality of the urethra, Ectopic kidney, Hydrone... ORPHA:887
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:127550
Penile Agenesis
Unilateral renal hypoplasia, Maternal diabetes, Hydroureter, Bilateral renal agenesis, Cystic ren... ORPHA:49
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Recurrent urinary tract infections OMIM:300755
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureteral obstruction, Aplasia/Hypoplasia of the bladder, Hydroureter, Renal tubular epit... ORPHA:79404
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Renal cyst OMIM:608091
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Recurrent urinary tract infections, Unilateral renal... OMIM:614527
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Membranoproliferative glomerulonephritis, Abscess, Eo... OMIM:615816
Mosaic Trisomy 9
Multiple renal cysts, Horseshoe kidney, Renal dysplasia, Asplenia, Hydronephrosis, Hypoplasia of ... ORPHA:99776
Avian Influenza
Thrombocytopenia, Lymphopenia, Acute kidney injury, Leukopenia ORPHA:454836
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Fusariosis
Lung abscess, Lymphopenia, Granuloma, Neutropenia, Abnormality of the spleen, Brain abscess, Abno... ORPHA:228119
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Renal hypoplasia, Thrombocytopenia, Vesicoureteral reflux, Renal cyst,... OMIM:122470
Mosaic Trisomy 1
Penile hypospadias, Micropenis, Renal cortical cysts, Renal cyst ORPHA:1692
Trisomy 1Q
Congenital megaureter, Hydronephrosis, Multicystic kidney dysplasia ORPHA:261344
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Polysplenia, Enlarged kidney OMIM:200995
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Pallister-Hall Syndrome
Hydroureter, Renal hypoplasia, Renal dysplasia, Renal cyst, Ectopic kidney, Hydronephrosis, Dista... OMIM:146510
Lymphangioleiomyomatosis
Renal neoplasm, Multiple renal cysts, Abnormal urinary color, Hematuria, Renal angiomyolipoma, Pu... ORPHA:538
Trisomy 20P
Multiple renal cysts, Abnormality of the ureter, Abnormal localization of kidney, Hydronephrosis,... ORPHA:261318
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome ORPHA:110
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Abnormal penis morphology, Abnormality of the urinary system, Multic... ORPHA:2461
Hennekam Syndrome
Horseshoe kidney, Lymphopenia, Ectopic kidney, Pulmonary lymphangiectasia, Splenomegaly, Lymphang... ORPHA:2136
Meckel Syndrome, Type 6
Renal cyst OMIM:612284
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Renal cyst, Hypospadias, Leukemia, Micropenis OMIM:257300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Renal dysplasia, Renal ... ORPHA:369837
Zellweger Syndrome
Hypospadias, Hydronephrosis, Multicystic kidney dysplasia ORPHA:912
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Abnormality of the lymphatic system, Lymphopenia ORPHA:90362
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2115
Joubert Syndrome 1
Renal cyst, Nephropathy OMIM:213300
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Bifid ureter, Renal dysplasia, Nephroblastoma, Renal cyst OMIM:617107
Tuberous Sclerosis 1
Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Renal insuf... OMIM:600740
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Nephroblastoma, Renal hamartoma, Renal cyst, Renal insufficiency, Nephrocalcinosi... ORPHA:99880
Campomelia, Cumming Type
Multiple renal cysts, Multicystic kidney dysplasia ORPHA:1318
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Nephropathy, Glo... ORPHA:906
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia OMIM:220500
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:308205
Parathyroid Carcinoma
Hypercalciuria, Nephroblastoma, Renal hamartoma, Renal cyst, Renal insufficiency, Nephrocalcinosi... ORPHA:143
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Microgastria-Limb Reduction Defect Syndrome
Crossed fused renal ectopia, Horseshoe kidney, Renal agenesis, Multicystic kidney dysplasia, Rena... ORPHA:2538
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Thrombocytopenia, Increased circulating interleukin 6, Abnormalit... ORPHA:544482
Radio-Renal Syndrome
Renal hypoplasia/aplasia, Renal dysplasia, Renal agenesis, Multicystic kidney dysplasia ORPHA:3015
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2075
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Chronic neutropenia, Multicystic kidney dysplas... ORPHA:500095
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadias, Micropenis ORPHA:464311
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Neonatal hypoglycemia, Enlarged kidney, Congenital megaureter, Polycythemia... ORPHA:116
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Whim Syndrome
Lymphadenitis, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia ORPHA:51636
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Tuberous Sclerosis 2
Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:613254
Simpson-Golabi-Behmel Syndrome
Hydroureter, Polysplenia, Hypoglycemia, Multicystic kidney dysplasia, Splenomegaly, Hydronephrosi... ORPHA:373
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Primary Sjögren Syndrome
Decreased proportion of CD4-positive helper T cells, Lymphopenia, Normocytic anemia, Thrombocytop... ORPHA:289390
Von Hippel-Lindau Syndrome
Polycythemia, Multiple renal cysts, Renal cell carcinoma OMIM:193300
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Mckusick-Kaufman Syndrome
Glandular hypospadias, Urogenital sinus anomaly, Multicystic kidney dysplasia, Hydronephrosis, Ur... ORPHA:2473
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadias, Micropenis ORPHA:464306
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1001
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Renal cyst, Renal insufficiency, Nephritis, Proteinuria OMIM:208500
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
D-Bifunctional Protein Deficiency
Renal cyst, Splenomegaly OMIM:261515
Fryns Syndrome
Renal agenesis, Polysplenia, Renal cyst, Hydronephrosis, Hypospadias, Ureteral duplication OMIM:229850
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Cranioectodermal Dysplasia 2
Renal insufficiency, Polysplenia, Renal cyst, Splenomegaly OMIM:613610
Fryns Syndrome
Hypospadias, Vesicoureteral reflux, Hydronephrosis, Multicystic kidney dysplasia ORPHA:2059
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Joubert Syndrome With Hepatic Defect
Renal insufficiency, Splenomegaly, Nephropathy, Multicystic kidney dysplasia ORPHA:1454
Schinzel-Giedion Syndrome
Myeloid leukemia, Abnormality of the ureter, Renal cyst, Hydronephrosis, Nephroblastoma, Hypospad... ORPHA:798
Neuromuscular Oculoauditory Syndrome
Multiple renal cysts, Reduced renal corticomedullary differentiation OMIM:618733
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Multicystic kidney dysplasia, Hydroureter ORPHA:2241
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Anemia ORPHA:935
Smith-Lemli-Opitz Syndrome
Renal hypoplasia, Unilateral renal agenesis, Ureteropelvic junction obstruction, Renal cyst, Hydr... OMIM:270400
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Pagod Syndrome
Renal hypoplasia/aplasia, Abnormality of the spleen, Multicystic kidney dysplasia ORPHA:991
Histiocytoid Cardiomyopathy
Renal cyst, Hypoglycemia ORPHA:137675
Focal Dermal Hypoplasia
Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia ORPHA:2092
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Multiple renal cysts, Hematuria, Oligosacchariduria, Aminoacidu... ORPHA:534
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Splenomegaly, Cystic renal dysplasia OMIM:269860
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Hemifacial Microsomia
Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicoureteral reflux, Ectopic ... OMIM:164210
Meckel Syndrome
Urethral atresia, Accessory spleen, Multicystic kidney dysplasia, Asplenia, Ureteral duplication ORPHA:564
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst ORPHA:480536
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Vesicoureteral reflux, Renal cyst OMIM:616975
Jacobsen Syndrome
Bone marrow hypocellularity, Thrombocytopenia, Hydronephrosis, Multicystic kidney dysplasia ORPHA:2308
1P36 Deletion Syndrome
Renal cyst, Hydronephrosis, Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Abnormal... ORPHA:1606
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst OMIM:117650
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Nephroblastoma, Multicystic kidney dysplasia ORPHA:1052
Hajdu-Cheney Syndrome
Hypospadias, Renal cyst OMIM:102500
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Polysplenia, Nephroblastoma, Duplication of renal pelvis, Renal cyst, Splenomega... OMIM:312870
Von Hippel-Lindau Disease
Elevated urinary catecholamines, Polycythemia, Multiple renal cysts, Renal cell carcinoma ORPHA:892
Hajdu-Cheney Syndrome
Hypospadias, Multiple renal cysts, Splenomegaly ORPHA:955
Proteus Syndrome
Long penis, Thymus hyperplasia, Neoplasm of the thymus, Renal cyst, Splenomegaly, Lymphangioma ORPHA:744
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Ureteropelvic junction obstruction... ORPHA:818
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Orofaciodigital Syndrome Type 1
Renal insufficiency, Hydronephrosis, Proteinuria, Multicystic kidney dysplasia ORPHA:2750
Williams Syndrome
Multiple renal cysts, Renal hypoplasia, Renovascular hypertension, Recurrent urinary tract infect... ORPHA:904
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Micropenis, Renal cyst OMIM:210710
Robinow Syndrome
Multicystic kidney dysplasia, Micropenis, Webbed penis, Hydronephrosis ORPHA:97360
Townes-Brocks Syndrome 1
Renal hypoplasia, Urethral valve, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral r... OMIM:107480
Charge Syndrome
Horseshoe kidney, Renal hypoplasia, Lymphopenia, Aplasia/Hypoplasia of the thymus, Hydronephrosis... OMIM:214800
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Townes-Brocks Syndrome
Multiple renal cysts, Renal hypoplasia, Urethral valve, Vesicoureteral reflux, Ectopic kidney, Hy... ORPHA:857
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hypoplasia of penis ORPHA:1507
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Distal Monosomy 15Q
Hypospadias, Multicystic kidney dysplasia, Micropenis, Abnormal localization of kidney ORPHA:1596
Tetrasomy 9P
Multiple renal cysts, Horseshoe kidney, Recurrent urinary tract infections, Renal dysplasia, Hydr... ORPHA:3310
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis, Hypoplasia of penis ORPHA:93271
C Syndrome
Renal hypoplasia/aplasia, Horseshoe kidney, Multicystic kidney dysplasia ORPHA:1308
Branchiooculofacial Syndrome
Hypospadias, Renal agenesis, Renal cyst, Ectopic thymus tissue OMIM:113620
Fraser Syndrome
Urethral atresia, Renal hypoplasia, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias ORPHA:2052
Peters Plus Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hypospadias, Renal hypoplasia/aplasia, Ureteral dup... ORPHA:709
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Chordee, Micropenis, Multicystic kidney dysplasia, Urinary incontinence, Vesicoureteral reflux, H... ORPHA:261537
Mowat-Wilson Syndrome
Chordee, Micropenis, Renal duplication, Multicystic kidney dysplasia, Urinary incontinence, Vesic... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Micropenis, Multicystic kidney dysplasia, Urinary incontinence, Vesicoureteral reflux, D... ORPHA:261552
Genitopatellar Syndrome
Multicystic kidney dysplasia, Micropenis, Hydronephrosis OMIM:606170
Cornelia De Lange Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypoplasia of penis, Hy... ORPHA:199
Pallister-Killian Syndrome
Hypospadias, Renal dysplasia, Renal cyst OMIM:601803
Pmm2-Cdg
Abnormal renal tubule morphology, Multiple renal cysts, Hyperinsulinemia, Insulin resistance, Imp... ORPHA:79318

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 Ccdc88b

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 Ccdc88b.

No publications found that use IMPC mice or data for Ccdc88b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ccdc88btm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ccdc88bem1(IMPC)Tcp Inter-exon deletion Mice

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