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Gene: Ccdc88b MGI:1925567

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased fasting circulating glucose level Ccdc88bem1(IMPC)Tcp HOM Early adult 8.70×10-05
decreased lymphocyte cell number Ccdc88bem1(IMPC)Tcp HOM Early adult 9.76×10-07
polycystic kidney Ccdc88bem1(IMPC)Tcp HOM Early adult 0.00
decreased leukocyte cell number Ccdc88bem1(IMPC)Tcp HOM Early adult 2.40×10-07
enlarged lymph nodes Ccdc88bem1(IMPC)Tcp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

97 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Eye Morphology

Images Slit Lamp

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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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
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... OMIM:614493
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... OMIM:615897
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency 48
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid... OMIM:269840
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
RCAD (renal cysts and diabetes)
Diabetes mellitus, Multiple renal cysts DECIPHER:47
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Immunodeficiency 11A
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... OMIM:615206
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias... OMIM:212050
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia OMIM:300988
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis OMIM:247800
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... ORPHA:169079
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... OMIM:615607
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... ORPHA:444463
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Splenom... OMIM:263200
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Selective Igm Deficiency
Recurrent staphylococcal infections, Paraproteinemia, Sepsis, Recurrent cutaneous fungal infectio... ORPHA:331235
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... ORPHA:276
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Enlarged k... OMIM:615285
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Increased circulating IgE level, Recurrent upper respiratory ... ORPHA:277
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De... OMIM:616098
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infections, T lymphocytopen... ORPHA:572
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, T lymphocytopenia... OMIM:615518
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Absent microvilli on... OMIM:301000
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, Hepatosplenomegaly,... ORPHA:169160
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... OMIM:617056
Femoral-Facial Syndrome
Maternal diabetes, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney, Polycys... ORPHA:1988
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... OMIM:243700
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Recurrent respiratory infections, Decreased circulating total IgM, T lymphocytopenia... OMIM:619510
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... OMIM:231680
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir... OMIM:618986
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... OMIM:240500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... ORPHA:552
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, Increased circ... ORPHA:158061
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Asplenia, Splenomegaly, Pancreatic cysts, Ureteral atresia, Stage 5 chronic ... OMIM:208540
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic lymphatic leukem... OMIM:616005
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... OMIM:618108
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Kimura Disease
Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Ureteral duplication, Renal insufficiency, Hypoglycemia, Long-chain dica... OMIM:608836
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Thromboc... ORPHA:540
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... ORPHA:178320
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... OMIM:613011
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Orthostatic Hypotension 2
Hypoglycemia, Anemia, Decreased glomerular filtration rate OMIM:618182
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Recurrent viral infections, Recurrent upper respiratory tract... OMIM:209920
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Immunodeficiency 95
Lymphopenia OMIM:619773
Immunodeficiency 22
Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to... OMIM:615758
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria... ORPHA:26791
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Diabetes mellitus, Pancreatic cysts, Splenomegaly, Renal cyst, Polycystic kidney dysplasia, Splen... OMIM:610199
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia OMIM:214110
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ... OMIM:618935
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Mesangial hypercellularity, Podocyte foot... OMIM:617575
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia, Impaired Ig class switch recomb... OMIM:308230
Caroli Syndrome
Liver abscess, Abnormality of the kidney, Hypersplenism, Leukocytosis, Leukopenia, Polycystic kid... ORPHA:480520
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Sweet Syndrome
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt... ORPHA:3243
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun... OMIM:613179
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Hydronephrosis, Polycystic kid... ORPHA:2237
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Caroli Disease
Splenomegaly, Leukocytosis, Liver abscess, Polycystic kidney dysplasia ORPHA:53035
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Hypoplasia of the thymus, Polycys... ORPHA:84064
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Bone marrow hypoc... ORPHA:445038
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Recurrent urinary tract infections, Lymphopenia, Leukopenia OMIM:620210
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce... OMIM:301078
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Splenomegaly, Renal cyst, Hepatosplenomegaly, Polycystic kidney dysplasia, Renal cor... OMIM:614866
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Ataxia-Telangiectasia
Diabetes mellitus, Polycystic ovaries, Type II diabetes mellitus, Lymphopenia, Aplasia/Hypoplasia... ORPHA:100
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Pancreatic ... ORPHA:731
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the lymphat... ORPHA:54251
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, Renal cyst OMIM:605231
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia OMIM:606232
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin... ORPHA:97362
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Immunodeficiency 44
Lymphopenia OMIM:616636
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno... ORPHA:2686
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Joubert Syndrome 20
Renal cyst OMIM:614970
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Distal Deletion 12Q
Diabetes mellitus, Maturity-onset diabetes of the young, Ectopic kidney, Polycystic kidney dyspla... ORPHA:96149
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Lymphangiectasis, Renal cyst, Hyperinsulinemic hypoglycemia OMIM:602579
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... ORPHA:1834
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Asplenia, Splenomegaly, Abnormality ... OMIM:249000
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Coach Syndrome 1
Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stage 5 chronic ki... OMIM:216360
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
22Q11.2 Deletion Syndrome
Hypospadias, Abnormality of the tonsils, Splenomegaly, Renal hypoplasia, Hypoplasia of the thymus... ORPHA:567
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... ORPHA:464329
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia, Nephrotic s... ORPHA:93552
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia OMIM:616100
Ogden Syndrome
Global glomerulosclerosis, Maternal diabetes, Thrombocytopenia, Iron deficiency anemia, Polycysti... OMIM:300855
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Cystic Echinococcosis
Eosinophilia, Abscess, Hepatic cysts, Renal cyst, Ovarian cyst, Membranous nephropathy, Splenic c... ORPHA:400
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney OMIM:613730
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Hypoglycemia, Anemia, Leukopenia, Microphallus, ... OMIM:617053
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Roberts Syndrome
Long penis, Polycystic kidney dysplasia, Thrombocytopenia ORPHA:3103
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased u... ORPHA:760
Axial Osteomalacia
Renal cyst OMIM:109130
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, ... OMIM:300755
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Enlarged kidney, Cystic renal dysplasia, Hepatic cysts OMIM:615415
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:263520
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Femoral-Facial Syndrome
Renal agenesis, Abnormal renal collecting system morphology, Maternal diabetes, Polycystic kidney... OMIM:134780
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Legionnaires Disease
Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Bone marrow hypocellu... ORPHA:549
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... OMIM:615934
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Thrombocytopenia OMIM:619980
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral reflux, Lymphopen... OMIM:618460
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellitus, Renal hypoplasia/aplasia, U... ORPHA:261265
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:18
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly... OMIM:612541
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... OMIM:267010
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Hepatic cysts, Pancreatic cysts, Renal cyst, Abnormal spleen morphol... ORPHA:284
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of th... OMIM:102700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micropenis, Renal cyst, Renal hypoplasia, Polycystic kidney dysplasia OMIM:210710
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Extramedullary hematopoiesis, Renal cyst ORPHA:79303
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell carcinoma, Multiple renal cyst... ORPHA:2869
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... ORPHA:93111
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... ORPHA:125
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Renal artery aneurysm, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomeg... OMIM:615688
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Decreased proportion of CD3-positive T cells, Intestinal ly... ORPHA:90362
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Pearson Syndrome
Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuria, Diabetes mellitus, Splenomegaly,... ORPHA:699
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ... ORPHA:391487
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis, Leukemia OMIM:257300
Transketolase Deficiency
Type I diabetes mellitus, Increased level of ribose in urine, Renal cyst ORPHA:488618
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia, Maternal diabetes ORPHA:3404
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Bone marrow hyp... OMIM:127550
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... ORPHA:261494
Ataxia-Telangiectasia
Diabetes mellitus, Acute lymphoblastic leukemia, T lymphocytopenia, Glucose intolerance, Hypoplas... OMIM:208900
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Polycythemia OMIM:193300
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia ORPHA:1572
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Diabetes... OMIM:614162
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Fetal pyelectasis, Bilateral renal hypopl... ORPHA:49
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Thrombocytosis OMIM:212065
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia ORPHA:110
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Transient neutropenia, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Renal dysp... ORPHA:99776
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Long penis, Horseshoe kidney, Polycystic kidney dysplasia OMIM:268300
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia OMIM:200995
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Joubert Syndrome 14
Renal cyst OMIM:614424
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Lymphadenopathy, Hem... ORPHA:538
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Joubert Syndrome With Hepatic Defect
Splenomegaly, Nephropathy, Renal insufficiency, Multicystic kidney dysplasia ORPHA:1454
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst ORPHA:1692
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Hepatosplenom... OMIM:266920
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Wiskott-Aldrich Syndrome
Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytop... ORPHA:906
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality of the spleen... ORPHA:2538
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... ORPHA:369837
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Renal angiom... OMIM:613254
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangiomyomatosis OMIM:191100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Leukocytosis,... ORPHA:544482
D-Bifunctional Protein Deficiency
Splenomegaly, Renal cyst OMIM:261515
Joubert Syndrome 21
Splenomegaly, Hyperechogenic kidneys, Renal cyst OMIM:615636
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464311
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph... ORPHA:500095
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hypoglycemia, Neonatal hypoglycemia, Splenomegaly, Nephrolithiasis, Hyperca... ORPHA:116
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464306
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Polysplenia, Hydronephrosis OMIM:229850
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Histiocytoid Cardiomyopathy
Hypoglycemia, Renal cyst, Polycystic ovaries ORPHA:137675
Short-Rib Thoracic Dysplasia 12
Splenomegaly, Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Thrombocytopenia, Proximal renal tubular acidos... ORPHA:534
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Schinzel-Giedion Syndrome
Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, ... ORPHA:798
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Asplenia, Pancreatic cysts,... ORPHA:564
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Cranioectodermal Dysplasia 2
Splenomegaly, Renal insufficiency, Renal cyst, Polysplenia OMIM:613610
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... ORPHA:892
Pagod Syndrome
Abnormality of the spleen, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:991
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Bone marrow hypocellularity, Thrombocytopenia ORPHA:2308
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Hypospadias, Renal cyst OMIM:616975
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormality of the spleen, Renal cys... ORPHA:1606
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Hajdu-Cheney Syndrome
Splenomegaly, Multiple renal cysts, Hypospadias ORPHA:955
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis ORPHA:2750
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Proteus Syndrome
Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries, Long penis... ORPHA:744
Williams Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr... ORPHA:904
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Polysplenia, Nephroblastoma, ... OMIM:312870
Robinow Syndrome
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:97360
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Distal Deletion 15Q
Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias ORPHA:1596
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... ORPHA:3310
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:1308
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... ORPHA:709
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia ORPHA:2052
Branchiooculofacial Syndrome
Ectopic thymus tissue, Renal agenesis, Hypospadias, Renal cyst OMIM:113620
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... OMIM:107480
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter... ORPHA:199
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Asplenia, Chordee, Vesicouretera... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Asple... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Asplenia, Duplication of renal p... ORPHA:261552
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Renal dyspl... OMIM:308205
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Pmm2-Cdg
Proteinuria, Insulin resistance, Hyperinsulinemia, Nephrotic syndrome, Multiple renal cysts, Impa... ORPHA:79318
Pallister-Killian Syndrome
Hypospadias, Renal dysplasia, Renal cyst OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... OMIM:164210

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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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