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Gene: Defb1 MGI:1096878

Gene Summary

Name:

defensin beta 1

Synonyms:

mBD-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased locomotor activity	Defb1^em1(IMPC)Mbp	HOM	Early adult	1.94×10^-18
hyperactivity	Defb1^em1(IMPC)Mbp	HOM	Early adult	7.29×10^-06
abnormal behavior	Defb1^em1(IMPC)Mbp	HOM	Early adult	2.71×10^-16
decreased anxiety-related response	Defb1^em1(IMPC)Mbp	HOM	Early adult	6.36×10^-13
decreased thigmotaxis	Defb1^em1(IMPC)Mbp	HOM	Early adult	2.21×10^-16

Download data as: TSV XLS

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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.

Phenotype associated images not available

Human diseases caused by Defb1 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.

Human diseases associated with Defb1 (0 diseases)
Human diseases predicted to be associated with Defb1 (390 diseases)

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

The table below shows human diseases predicted to be associated to Defb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Enuresis, Nocturnal, 1	Enuresis nocturna	OMIM:600631
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Enuresis, Nocturnal, 2	Enuresis nocturna	OMIM:600808
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Human Coronavirus Sensitivity	Susceptibility to coronavirus 229e	OMIM:122460
Varicella, Severe Recurrent	Severe recurrent varicella	OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To	Tegumentary leishmaniasis susceptibility	OMIM:602068
Coxsackievirus B3 Susceptibility	Recurrent viral infections	OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Candidiasis, Familial, 4	Onychomycosis, Recurrent vulvovaginal candidiasis	OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Schizophrenia 15	Hyperactivity	OMIM:613950
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Recurrent bacterial skin infections	ORPHA:183713
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Spastic Paraplegia 41, Autosomal Dominant	Urinary urgency	OMIM:613364
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections	OMIM:608957
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Urinary bladder sphincter dysfunction	ORPHA:284282
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Spastic Paraplegia 27, Autosomal Recessive	Spastic/hyperactive bladder	OMIM:609041
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder	ORPHA:100997
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Immunodeficiency 51	Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca...	OMIM:613953
Vesicoureteral Reflux, X-Linked	Vesicoureteral reflux	OMIM:314550
Vesicoureteral Reflux 1	Vesicoureteral reflux	OMIM:193000
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Hartnup Disorder	Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Autosomal Recessive Spastic Paraplegia Type 27	Spastic/hyperactive bladder	ORPHA:101007
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Inability to walk, Irritability, Hyperactivity	OMIM:616657
Spastic Paraplegia 13, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:605280
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy	OMIM:605899
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic...	OMIM:618612
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Autosomal Dominant Spastic Paraplegia Type 4	Urinary urgency, Urinary bladder sphincter dysfunction	ORPHA:100985
Spastic Paraplegia 83, Autosomal Recessive	Urinary urgency	OMIM:619027
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Interstitial Cystitis	Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ...	ORPHA:37202
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre...	OMIM:613493
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti...	OMIM:613501
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Spastic Paraplegia 72, Autosomal Recessive	Urinary bladder sphincter dysfunction	OMIM:615625
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Spastic Paraplegia 19, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:607152
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia	OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Autosomal Spastic Paraplegia Type 72	Urinary bladder sphincter dysfunction	ORPHA:401849
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior	OMIM:239500
Spastic Paraplegia 12, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:604805
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec...	OMIM:300310
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors	OMIM:301107
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity	ORPHA:436151
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se...	OMIM:614868
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency	OMIM:618878
Autosomal Recessive Spastic Paraplegia Type 76	Functional abnormality of the bladder	ORPHA:488594
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Spastic Paraplegia 37, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:611945
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior	OMIM:620270
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro...	ORPHA:248111
Spastic Paraplegia 31, Autosomal Dominant	Urinary urgency	OMIM:610250
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior	OMIM:619470
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia	OMIM:613502
Autosomal Dominant Spastic Paraplegia Type 13	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:100994
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Ketamine-Induced Biliary Dilatation	Dysuria	ORPHA:293807
Griscelli Syndrome, Type 2	Recurrent bacterial infections	OMIM:607624
Spastic Paraplegia 8, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:600363
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis	OMIM:612692
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi...	OMIM:619827
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder	OMIM:300076
Specific Granule Deficiency 1	Recurrent bacterial infections	OMIM:245480
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Spastic Paraplegia 36, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:613096
Hyperlysinemia, Type I	Hyperactivity	OMIM:238700
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections	OMIM:193670
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior	OMIM:248510
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,...	OMIM:240500
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis	ORPHA:382
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior	OMIM:300983
Spastic Paraplegia 3, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:182600
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Spastic Paraplegia, Ataxia, And Mental Retardation	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:607565
Lennox-Gastaut Syndrome	Hyperactivity, Falls, Aggressive behavior	ORPHA:2382
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Intellectual Developmental Disorder, X-Linked 90	Enuresis	OMIM:300850
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections	OMIM:616873
Chromosome 3Q29 Deletion Syndrome	Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior	OMIM:612716
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder	OMIM:617028
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity	OMIM:300928
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation	OMIM:615516
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism...	OMIM:618718
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Small Cell Carcinoma Of The Bladder	Hematuria, Recurrent urinary tract infections, Dysuria	ORPHA:284400
Landau-Kleffner Syndrome	Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, Steppage gait, Attentio...	ORPHA:98818
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f...	ORPHA:83471
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Hyperactivity	OMIM:274270
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder	ORPHA:2571
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Recurrent ba...	OMIM:243700
Multiple Sclerosis, Susceptibility To	Urinary hesitancy, Urinary incontinence	OMIM:126200
Spastic Paraplegia 89, Autosomal Recessive	Functional abnormality of the bladder	OMIM:620379
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia	OMIM:615924
Immunodeficiency, Common Variable, 1	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,...	OMIM:607594
Morm Syndrome	Hyperactivity, Aggressive behavior	ORPHA:75858
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur...	ORPHA:2688
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections	ORPHA:169079
Parkinson Disease 6, Autosomal Recessive Early-Onset	Urinary urgency	OMIM:605909
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior	OMIM:620023
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Spastic Paraplegia 10, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:604187
Isolated Epispadias	Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence	ORPHA:93928
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo...	ORPHA:276
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Spastic Paraplegia 4, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:182601
Spastic Paraplegia 16, X-Linked	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:300266
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors	OMIM:619467
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida...	ORPHA:572
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia	ORPHA:500180
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia	ORPHA:411515
Paraparetic Variant Of Guillain-Barré Syndrome	Urinary bladder sphincter dysfunction	ORPHA:231445
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio...	ORPHA:911
Succinic Semialdehyde Dehydrogenase Deficiency	Self-injurious behavior, Hyperactivity, Ataxia, Aggressive behavior	OMIM:271980
Spinocerebellar Ataxia Type 25	Urinary urgency	ORPHA:101111
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613496
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec...	ORPHA:169090
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Chronic mu...	ORPHA:98813
Spastic Paraplegia 29, Autosomal Dominant	Urinary urgency, Urinary hesitancy, Urinary incontinence, Nocturia	OMIM:609727
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu...	OMIM:116920
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur...	OMIM:147060
Autosomal Recessive Spastic Paraplegia Type 48	Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:306511
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233710
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Broad-based gait, Aggressive behavior	ORPHA:457260
Autosomal Dominant Spastic Paraplegia Type 73	Urinary urgency, Urinary incontinence	ORPHA:444099
Spastic Paraplegia 30, Autosomal Dominant	Urinary bladder sphincter dysfunction	OMIM:610357
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado...	ORPHA:228360
Immunodeficiency 10	Recurrent bacterial infections, Recurrent infections	OMIM:612783
Specific Granule Deficiency 2	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis	OMIM:617475
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:206583
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233690
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence	ORPHA:2795
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:601495
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,...	ORPHA:331235
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent herpes, Recurrent...	ORPHA:183675
Neuromyelitis Optica Spectrum Disorder	Functional abnormality of the bladder	ORPHA:71211
Autosomal Dominant Spastic Paraplegia Type 36	Urinary urgency, Urinary incontinence	ORPHA:320365
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Urinary urgency	ORPHA:314603
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Enuresis	OMIM:613670
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre...	ORPHA:486
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Familial Renal Glucosuria	Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy	ORPHA:69076
Spastic Paraplegia 80, Autosomal Dominant	Urinary urgency	OMIM:618418
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections	OMIM:619693
Acquired Central Diabetes Insipidus	Pollakisuria	ORPHA:95626
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia	OMIM:275000
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re...	OMIM:610042
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i...	ORPHA:79233
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord...	OMIM:620242
Spastic Paraplegia 11, Autosomal Recessive	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:604360
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec...	OMIM:616005
Immunodeficiency 21	Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in...	OMIM:614172
Autosomal Dominant Spastic Paraplegia Type 41	Urinary urgency	ORPHA:320355
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking	ORPHA:100924
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis	OMIM:612840
Autosomal Dominant Spastic Paraplegia Type 8	Urinary urgency, Urinary incontinence	ORPHA:100989
Roussy-Lévy Syndrome	Urinary bladder sphincter dysfunction	ORPHA:3115
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t...	ORPHA:449291
Spinocerebellar Ataxia 42	Urinary urgency, Urinary incontinence	OMIM:616795
Immunodeficiency 12	Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf...	OMIM:615468
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Recurrent viral infections, Recurrent opportunistic infection...	OMIM:613179
Autosomal Dominant Spastic Paraplegia Type 3	Urinary urgency	ORPHA:100984
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Urinary urgency, Urinary incontinence	OMIM:612319
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent bacterial infections, Recurrent viral infections	OMIM:618048
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia, ...	OMIM:610217
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ...	OMIM:606367
Spastic Paraplegia 7, Autosomal Recessive	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:607259
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Low frustration tolerance, Abnormal temper tantrums, ...	ORPHA:163681
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Gait disturbance, Disinhibition, Attention deficit hyperactiv...	ORPHA:43
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Recurrent lower respiratory tra...	OMIM:308230
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren...	ORPHA:331206
Autosomal Recessive Spastic Paraplegia Type 15	Functional abnormality of the bladder	ORPHA:100996
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Xq28 (MECP2) duplication	Functional abnormality of the bladder	DECIPHER:45
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections	OMIM:603585
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Autosomal Dominant Spastic Paraplegia Type 37	Urinary urgency	ORPHA:171612
Spastic Paraplegia 15, Autosomal Recessive	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:270700
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:306400
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum	OMIM:300291
X-Linked Creatine Transporter Deficiency	Athetosis, Hyperactivity, Ataxia, Self-mutilation	ORPHA:52503
Omenn Syndrome	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections	OMIM:603554
Spastic Paraplegia 78, Autosomal Recessive	Urinary urgency	OMIM:617225
Foix-Alajouanine Syndrome	Neurogenic bladder, Functional abnormality of the bladder, Urinary retention, Urinary incontinence	ORPHA:79093
Autosomal Recessive Spastic Paraplegia Type 44	Urinary bladder sphincter dysfunction	ORPHA:320401
Immunodeficiency 23	Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in...	OMIM:615816
Central Diabetes Insipidus	Nocturia	ORPHA:178029
Spastic Ataxia 3, Autosomal Recessive	Urinary urgency, Neurogenic bladder	OMIM:611390
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Pure Autonomic Failure	Dysuria, Urinary incontinence	ORPHA:441
Histidinemia	Hyperactivity	ORPHA:2157
Autosomal Dominant Spastic Paraplegia Type 19	Urinary urgency	ORPHA:100999
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Spastic Paraplegia Type 2	Spastic/hyperactive bladder	ORPHA:99015
Spinocerebellar Ataxia 25	Urinary urgency	OMIM:608703
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Ataxia	OMIM:620047
Spastic Paraplegia Type 7	Urinary urgency	ORPHA:99013
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte concentration...	ORPHA:199343
Arachnoiditis	Urinary bladder sphincter dysfunction	ORPHA:137817
Pgm3-Cdg	Recurrent respiratory infections, Recurrent viral infections, Recurrent pneumonia, Sepsis, Recurr...	ORPHA:443811
Spinal Arteriovenous Metameric Syndrome	Urinary bladder sphincter dysfunction, Abnormality of the kidney	ORPHA:53721
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections	OMIM:244460
Hypocomplementemic Urticarial Vasculitis	Recurrent bacterial infections, Meningitis	ORPHA:36412
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Recurre...	ORPHA:221139
Hereditary Amyloidosis With Primary Renal Involvement	Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti...	ORPHA:85450
Autosomal Dominant Spastic Paraplegia Type 12	Urinary urgency, Urinary incontinence	ORPHA:100993
Porphyria, Acute Intermittent	Dysuria, Urinary retention, Urinary incontinence, Elevated urinary delta-aminolevulinic acid	OMIM:176000
Argininemia	Irritability, Hyperactivity, Spastic gait, Anorexia	OMIM:207800
Malakoplakia	Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy	ORPHA:556
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Recurrent bacterial infections, Recurrent abscess formation, Chronic oral ca...	OMIM:608233
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Urinary urgency	OMIM:601338
Spastic Paraplegia 26, Autosomal Recessive	Urinary urgency	OMIM:609195
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Gait dis...	OMIM:234200
Mirage Syndrome	Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis	OMIM:617053
Cln3 Disease	Urinary bladder sphincter dysfunction	ORPHA:228346
Distal Deletion 10Q	Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k...	ORPHA:96148
Spinocerebellar Ataxia 10	Urinary urgency, Urinary incontinence	OMIM:603516
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent bac...	OMIM:102700
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Urinary urgency	OMIM:619286
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ...	OMIM:612541
Hereditary Motor And Sensory Neuropathy, Type Iic	Urinary urgency, Urinary incontinence	OMIM:606071
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Autosomal Dominant Spastic Paraplegia Type 10	Urinary urgency, Spastic/hyperactive bladder	ORPHA:100991
Blepharophimosis-Impaired Intellectual Development Syndrome	Enuresis, Recurrent urinary tract infections, Hypospadias	OMIM:619293
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Autosomal Recessive Spastic Paraplegia Type 77	Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence	ORPHA:466722
Chédiak-Higashi Syndrome	Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i...	ORPHA:167
Postinfectious Vasculitis	Persistent human papillomavirus infection, Severe varicella zoster infection, Invasive fungal inf...	ORPHA:48435
Primary Ciliary Dyskinesia	Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections	ORPHA:244
Adrenoleukodystrophy	Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:300100
Alexander Disease Type Ii	Urinary bladder sphincter dysfunction	ORPHA:363722
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in...	ORPHA:51636
Spastic Paraplegia 20, Autosomal Recessive	Urinary urgency	OMIM:275900
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Urinary bladder sphincter dysfunction	ORPHA:52430
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Renal potassium wasting	OMIM:612780
Spastic Paraplegia 84, Autosomal Recessive	Urinary urgency	OMIM:619621
Spinocerebellar Ataxia Type 13	Urinary urgency, Urinary incontinence	ORPHA:98768
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic/hyperactive bladder	ORPHA:137898
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections	OMIM:248500
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Vici Syndrome	Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ...	OMIM:242840
Spinocerebellar Ataxia, Autosomal Recessive 7	Urinary urgency	OMIM:609270
Spinocerebellar Ataxia 2	Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:183090
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis	ORPHA:289483
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a...	OMIM:619743
Spinocerebellar Ataxia Type 42	Urinary urgency, Urinary incontinence	ORPHA:458803
Spastic Paraplegia 9A, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:601162
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney	ORPHA:459061
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections	OMIM:214500
Musculocontractural Ehlers-Danlos Syndrome	Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney	ORPHA:2953
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary urgency, Pollakisuria, Urinary incontinence	ORPHA:447753
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Nocturia, Renal potassium wasting	OMIM:263800
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation	ORPHA:99819
Urachal Cyst	Hematuria, Urachus fistula, Dysuria, Pyuria	ORPHA:488
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Recurrent bacterial infections	OMIM:615895
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Sepsis, Persistent EBV viremia, Severe cytomegalovirus infection, Rec...	OMIM:619573
Congenital-Onset Steinert Myotonic Dystrophy	Enuresis	ORPHA:589821
Spinocerebellar Ataxia Type 10	Urinary urgency	ORPHA:98761
Sickle Cell Disease	Recurrent bacterial infections	OMIM:603903
Adrenomyeloneuropathy	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary retention, Urinary incontinence	ORPHA:139399
Machado-Joseph Disease	Urinary bladder sphincter dysfunction	OMIM:109150
Immunodeficiency 47	Recurrent bacterial infections, Recurrent infections	OMIM:300972
Pelizaeus-Merzbacher Disease	Urinary urgency	OMIM:312080
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Urinary bladder sphincter dysfunction	ORPHA:64753
Perineural Cyst	Recurrent urinary tract infections, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:65250
Spastic Ataxia, Charlevoix-Saguenay Type	Urinary urgency	OMIM:270550
Spinocerebellar Ataxia 1	Urinary bladder sphincter dysfunction	OMIM:164400
Leukocyte Adhesion Deficiency	Recurrent urinary tract infections, Recurrent staphylococcal infections, BCGosis, Recurrent tonsi...	ORPHA:2968
Orthostatic Hypotension 1	Nocturia	OMIM:223360
Parkinson Disease, Late-Onset	Urinary urgency	OMIM:168600
Shwachman-Diamond Syndrome	Recurrent bacterial infections, Sepsis, Recurrent viral infections	ORPHA:811
Glycogen Storage Disease Ib	Recurrent bacterial infections	OMIM:232220
Multiple System Atrophy 1, Susceptibility To	Urinary urgency, Urinary incontinence	OMIM:146500
Tenorio Syndrome	Enuresis	OMIM:616260
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Parkinson Disease 1, Autosomal Dominant	Urinary urgency	OMIM:168601
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Nocturia	ORPHA:230
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Urinary bladder sphincter dysfunction	ORPHA:93256
Citrullinemia Type Ii	Enuresis	ORPHA:247585
Friedreich Ataxia	Urinary bladder sphincter dysfunction	ORPHA:95
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu...	ORPHA:358
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Arachnoid Cyst	Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:2356
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Recurrent bacterial infections	ORPHA:79259
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Adult-Onset Autosomal Dominant Leukodystrophy	Urinary urgency, Recurrent urinary tract infections, Urinary retention	ORPHA:99027
Superficial Siderosis	Functional abnormality of the bladder	ORPHA:247245
7Q11.23 Microduplication Syndrome	Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:96121
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Functional abnormality of the bladder, Renal artery stenosis, Renovascular hypertension	ORPHA:391487
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder	ORPHA:411602
Lysinuric Protein Intolerance	Recurrent bacterial infections	ORPHA:470
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections	ORPHA:2273
Acute Transverse Myelitis	Urinary bladder sphincter dysfunction, Urinary retention, Urinary incontinence	ORPHA:139417
Autosomal Dominant Progressive External Ophthalmoplegia	Nocturia	ORPHA:254892
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections	ORPHA:171
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r...	OMIM:619522
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Abnormality ...	ORPHA:79408
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Enuresis	ORPHA:369950
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Urethral sten...	OMIM:194050
Isolated Posterior Meningocele	Enuresis	ORPHA:268810
Parkinson Disease 14, Autosomal Recessive	Nocturia	OMIM:612953
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Urinary urgency, Micropenis, Pelvic kidney, Unilateral renal agenesis	OMIM:619503
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Enuresis	ORPHA:293987
Alström Syndrome	Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ...	ORPHA:64
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections	ORPHA:642

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 Defb1

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 Defb1.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Defb14^{tm1b(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Defb14^{tm1b(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Defb14^{tm1b(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Defb14^{tm1b(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Defb14^{tm1b(KOMP)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Defb1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Defb1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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