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Gene: Upf3b MGI:1915384

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Gene Summary

Name:
UPF3 regulator of nonsense transcripts homolog B (yeast)
Synonyms:
RENT3B,  5730594O13Rik,  UPF3X

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 lymphocyte cell number Upf3bem1(IMPC)Tcp HEM Early adult 9.32×10-09
abnormal sternum morphology Upf3bem1(IMPC)Tcp HEM Early adult 0.00
hyperactivity Upf3bem1(IMPC)Tcp HOM Early adult 1.26×10-09
decreased freezing behavior Upf3bem1(IMPC)Tcp HOM Early adult 1.00×10-08
decreased leukocyte cell number Upf3bem1(IMPC)Tcp HEM Early adult 7.59×10-09
increased vertical activity Upf3bem1(IMPC)Tcp HOM Early adult 7.43×10-05
small kidney Upf3bem1(IMPC)Tcp HEM Early adult 0.00
increased fasting circulating glucose level Upf3bem1(IMPC)Tcp HOM Early adult 6.02×10-05
increased fasting circulating glucose level Upf3bem1(IMPC)Tcp HEM Early adult 2.87×10-06
increased neutrophil cell number Upf3bem1(IMPC)Tcp HOM Early adult 5.88×10-06
abnormal stomach morphology Upf3bem1(IMPC)Tcp HOM Early adult 0.00
small thymus Upf3bem1(IMPC)Tcp HEM Early adult 0.00
hyperactivity Upf3bem1(IMPC)Tcp HEM Early adult 3.77×10-13
decreased lymphocyte cell number Upf3bem1(IMPC)Tcp HOM Early adult 1.51×10-05
small thymus Upf3bem1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

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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 Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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Histopathology

Images

8 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

7 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

7 Images

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Human diseases caused by Upf3b mutations

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

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

The table below shows human diseases associated to Upf3b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lujan-Fryns Syndrome
Macroorchidism, High palate, Attention deficit hyperactivity disorder ORPHA:776
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate OMIM:300676

The table below shows human diseases predicted to be associated to Upf3b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gastroenteritis OMIM:615615
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Gastroesophageal reflux, Attention deficit hyperactivity disorder OMIM:615401
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
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
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Glo... OMIM:234500
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hyperlysinemia, Type I
Hyperactivity, Anemia OMIM:238700
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Malabsorption, Leukopenia, Athetosis, Irritabilit... OMIM:229050
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Attention deficit hyperactivity diso... ORPHA:281090
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis OMIM:247800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Gastroesophageal reflux, Compulsive behaviors, Attention deficit hyperactivity dis... OMIM:619927
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... ORPHA:444463
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia, Abnormal urine carbohydrate level ORPHA:2056
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Hyperglycemia, Glucose intolerance OMIM:307500
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor... ORPHA:2494
Narcolepsy 3
Narcolepsy OMIM:609039
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Narcolepsy 1
Narcolepsy OMIM:161400
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Narcolepsy, Head tremor, Mental deterioration, Memory impairment ORPHA:314404
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Memory impairment, Narcolepsy, Dementia OMIM:604121
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Gastroesophageal reflux, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... ORPHA:248111
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Narrow palate, Recurrent hand flapping, Self-m... OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, Colitis, B lymphocy... OMIM:619281
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Gastric varix, Hepatocellular carcinoma OMIM:613490
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia OMIM:222100
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility OMIM:266265
Immunodeficiency 95
Lymphopenia OMIM:619773
Narcolepsy 7
Narcolepsy OMIM:614250
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms ORPHA:391307
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia... ORPHA:2688
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Pyloric stenosis ORPHA:664
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell ... ORPHA:760
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... OMIM:243150
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior, ... OMIM:620023
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Noonan Syndrome 12
11 pairs of ribs, Decreased response to growth hormone stimulation test, Proximal placement of th... OMIM:618624
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Increased fecal coproporphyrin 3, Abnormal erythrocyte enzyme level, Abnormal fear-... ORPHA:100924
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Sandal gap, Cryptorchidism, Polyphagia, Self-injurious behavi... ORPHA:228402
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Malabsorption OMIM:152800
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Fg Syndrome 3
Cryptorchidism, Hyperactivity, Pyloric stenosis OMIM:300406
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, Neoplasm of the stoma... ORPHA:44890
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Attention deficit hype... OMIM:620141
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Polydipsia, Postaxial polydactyly, Postaxial hand polydactyly, P... OMIM:615986
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Self-injurious behavior, Irrit... ORPHA:449291
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Esophageal varix, Anemia, Leukopenia, G... ORPHA:64743
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Depression, High palate, Gastroesophageal reflux, ... OMIM:620242
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Hypospadias, Hyperactivity, Cryptorchidism, Short metatarsal... OMIM:614613
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Goiter OMIM:275000
Ataxia-Telangiectasia
Diabetes mellitus, Ataxia, Polycystic ovaries, Gait disturbance, Type II diabetes mellitus, Lymph... ORPHA:100
Metachromatic Leukodystrophy
Ataxia, Abnormal stomach morphology, Abnormal gallbladder morphology, Tip-toe gait, Gait disturba... ORPHA:512
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center ORPHA:277
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c OMIM:618858
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly, Ulcerativ... OMIM:618935
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Immunodeficiency 85 And Autoimmunity
Villous atrophy, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphope... OMIM:619510
Griscelli Syndrome
Ataxia, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Lymphadenopathy, Leukopenia, ... ORPHA:381
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... OMIM:617600
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Anorexia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:169160
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci... OMIM:262190
Immunodeficiency 44
Lymphopenia OMIM:616636
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... OMIM:615710
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes OMIM:610582
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Pgm3-Cdg
Hemolytic anemia, Lactose intolerance, Abnormal proportion of CD8-positive T cells, Eosinophilia,... ORPHA:443811
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cognitive impairment, Dystonia ORPHA:309246
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Thickened ribs, Aggressive behavior, Heparan sulfate excretion in urine, Splenomegaly OMIM:252920
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Myeloprol... ORPHA:3226
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c OMIM:606176
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Trisomy 18P
Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Attention deficit hyperactivity ... ORPHA:1715
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nep... ORPHA:69076
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splenomegaly, Lymph... OMIM:616100
Reni Syndrome
Diffuse mesangial sclerosis, Hypoglycemia, Proteinuria, Cryptorchidism, Stage 5 chronic kidney di... OMIM:617575
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Enterocolitis, Lymphadenopathy, D... ORPHA:2686
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response OMIM:300607
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Malabsorption ORPHA:1116
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Ataxia, Ileus, Athetosis, Self-mutilation ORPHA:52503
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level, ... OMIM:619767
Mirage Syndrome
Hypoglycemia, Rocker bottom foot, Hypospadias, Cryptorchidism, Thrombocytopenia, Radial club hand... OMIM:617053
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer, Splenomegaly... ORPHA:98849
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Staphylococcal Necrotizing Pneumonia
Diabetes mellitus, Neutrophilia, Leukocytosis, Leukopenia, Addictive alcohol use ORPHA:36238
Niemann-Pick Disease Type C
Axial dystonia, Dystonia, Progressive neurologic deterioration, Tremor, Narcolepsy, Dementia, Cog... ORPHA:646
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia ORPHA:1302
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Lymphade... ORPHA:331206
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Fasting hypoglycemia, Hyperglycemia, A... ORPHA:2298
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Hypoglycemia, Supernumerary nipple, Aggressive behavior, Pyloric stenosis, Unsteady gait,... ORPHA:457279
Icf Syndrome
Abnormality of neutrophils, Protruding tongue, Malabsorption, Macroglossia, Lymphopenia, Anemia ORPHA:2268
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph... OMIM:250250
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
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
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Bilateral cryptorchidism, Pyloric stenosis, Neutropenia, Meckel diverticulum OMIM:616395
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
High palate, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia, Addictive alcohol use ORPHA:1930
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Exaggerated startle response, Agyria, Hydrocephalus, Lissencephaly, Holoprosenceph... OMIM:253800
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Chronic Granulomatous Disease
Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal lymphadenopat... ORPHA:379
Ataxia-Telangiectasia
Diabetes mellitus, Ataxia, Inability to walk, Acute lymphoblastic leukemia, T lymphocytopenia, Ch... OMIM:208900
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow grea... OMIM:617425
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Thrombocytopenia, Stage... OMIM:242900
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Melena, Leukopenia, Dysphagia, Lymphopenia, Thrombocytopenia ORPHA:319218
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell ... ORPHA:276
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Ataxia, Splenomegaly, Leukocytosis, Esophageal varix, Lymphadenopathy, Hepatospleno... OMIM:615688
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Narrow greater sciatic notch, Abnormal repetitive mannerisms, Short phalanx of... ORPHA:508533
Immunodeficiency 23
Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Esophageal stricture, High palate, Neutropenia, ... OMIM:615816
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypoplasia, Thrombocyt... OMIM:612541
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresia, Rectal atre... ORPHA:2538
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Insulin resistance,... OMIM:616541
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopen... ORPHA:508542
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenome... OMIM:613179
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Dysmetria, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphope... OMIM:619708
Autoimmune Lymphoproliferative Syndrome
Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... ORPHA:3261
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... ORPHA:90362
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Diabetes... OMIM:614162
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response OMIM:617864
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormal lymph node morphology, Abnormal testis morph... ORPHA:54251
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Dysgyria OMIM:620327
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Geographic tongue, Furrowed tongue OMIM:614204
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Villous atrophy, Autoimmune thrombocytopenia, Esophageal carcinoma, ... ORPHA:391487
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Autoimmune thrombocytopenia, Short iliac bones, Metaphyseal sclerosis, Met... OMIM:607944
Adult-Onset Still Disease
Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Bone marrow hypocellularity ORPHA:829
Familial Gestational Hyperthyroidism
Goiter, Hyperactivity, Agitation, Thyroid hyperplasia ORPHA:99819
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypoc... OMIM:127550
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Maternal diabetes, Pyloric stenosis, Gastrointestinal ... ORPHA:1199
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Dystonia, Memory impairment, Laryngea... ORPHA:845
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Hyperactivity, Agitation, Thyroid hyperplasia ORPHA:424
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Abnormal cortical gyration, Cognitive impairment OMIM:617527
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Postaxial polydactyly, Renal hypoplasia, Renal cyst, Dysphagia, Neutropenia... OMIM:618460
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Phonic tics, Depression, Choreoathetosis, Gait d... OMIM:234200
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy, Anemia, Finger swelling, Lymphopenia, Thrombocytopenia OMIM:617591
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Whim Syndrome
Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, ... ORPHA:51636
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90363
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia ORPHA:293173
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Hypersplenism, Splenomegaly, Celiac disease, Hematemes... OMIM:301068
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
African Trypanosomiasis
Tremor, Narcolepsy, Myelopathy, Choreoathetosis, Delirium ORPHA:3385
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... ORPHA:1572
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Malabsorption, Thrombocytopenia, Leukocy... ORPHA:3260
Muir-Torre Syndrome
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Colon cancer, Adenoma se... ORPHA:587
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Hydrocephalus OMIM:617281
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Hematemesis, Thrombocytopeni... ORPHA:906
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Abnormal cortical gyration, Dystonia ORPHA:521426
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Aganglionic megacolon, Anemia, Malabsorption ORPHA:935
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Inflammation of t... ORPHA:3243
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Simplified gyral pattern OMIM:615574
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Reticulocytosis, Hypoglycemia, Anorexia, Aggressive be... ORPHA:99826
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Histidinemia
Hyperactivity ORPHA:2157
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Abnormal fear-induced be... ORPHA:353281
Lujan-Fryns Syndrome
Macroorchidism, High palate, Attention deficit hyperactivity disorder ORPHA:776
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes... ORPHA:99889
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Polydipsia, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:93111
Craniorachischisis
Bifid sternum ORPHA:63260
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Anorexia, Orchitis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hem... ORPHA:99827
Familial Mediterranean Fever
Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Crohn's disease OMIM:249100
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal... ORPHA:353277
Williams Syndrome
Colonic diverticula, Ataxia, Peptic ulcer, Malabsorption, Cryptorchidism, Rectal prolapse, Abnorm... ORPHA:904
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia ORPHA:438213
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate OMIM:300676

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.

Phenotype Allele Zygosity Sex Life Stage
Sciatic nerve - MPATH pathological process term hyperplasia Upf3bem1(IMPC)Tcp HEM Early adult
Sciatic nerve - MPATH pathological process term hyperplasia Upf3bem1(IMPC)Tcp HOM Early adult
Sciatic nerve - MPATH pathological process term atrophy Upf3bem1(IMPC)Tcp HEM Early adult
Sciatic nerve - MPATH pathological process term atrophy Upf3bem1(IMPC)Tcp HOM Early adult

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 Upf3b.

No publications found that use IMPC mice or data for Upf3b.

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
Upf3btm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Upf3btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Upf3btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Upf3btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Upf3bem1(IMPC)Tcp Exon Deletion Mice

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