Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein tyrosine phosphatase, non-receptor type 13
Synonyms:
PTP-BL,  Ptpri,  PTPL1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Ptpn13 mutations

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

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

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

The table below shows human diseases predicted to be associated to Ptpn13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent bacterial infections, Recurrent p... OMIM:613500
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Decreased circulating IgG level, Recurrent bacterial infections OMIM:242870
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Macrosomia Adiposa Congenita
Large for gestational age, Eosinophilia, Obesity OMIM:248100
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Abdominal obesity OMIM:618160
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Narcolepsy Type 1
Obesity ORPHA:2073
Summitt Syndrome
Obesity OMIM:272350
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Recurrent ... OMIM:612692
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:613502
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Sepsis OMIM:267500
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Halothane Hepatitis
Eosinophilia, Obesity OMIM:234350
Wiskott-Aldrich Syndrome 2
Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent otitis media, Recurrent sinusitis, Impaired T cell function, Decr... OMIM:607594
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Immunodeficiency 61
Obesity OMIM:300310
Rafiq Syndrome
Obesity OMIM:614202
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Decreased specific anti-polysaccharide antibody level, Recurrent otitis med... OMIM:300853
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recu... OMIM:209920
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Increased circulating IgE level, Recurrent upper respiratory ... ORPHA:277
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Adiposis Dolorosa
Obesity OMIM:103200
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive ORPHA:261483
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Decrea... ORPHA:572
Retinitis Pigmentosa 71
Obesity OMIM:616394
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71526
Nephronophthisis 15
Obesity OMIM:614845
Trisomy 5P
Obesity ORPHA:1742
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Morbid Obesity And Spermatogenic Failure
Obesity OMIM:615703
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Obesity OMIM:605309
Biemond Syndrome Type 2
Obesity ORPHA:141333
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Mehmo Syndrome
Small for gestational age, Obesity OMIM:300148
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Truncal obesity, Obesity OMIM:618363
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Fryns Macrocephaly
Truncal obesity OMIM:600302
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Immunodeficiency 81
Impaired neutrophil chemotaxis, Impaired collagen-induced platelet aggregation, Recurrent infecti... OMIM:619374
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Clark-Baraitser Syndrome
Obesity OMIM:617752
Mehmo Syndrome
Obesity ORPHA:85282
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity OMIM:609734
Summitt Syndrome
Tall stature, Obesity ORPHA:3210
Temple Syndrome
Truncal obesity, Overweight, Small for gestational age OMIM:616222
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Growth Hormone Insensitivity Syndrome
Truncal obesity, Failure to thrive ORPHA:181393
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, Chronic oral candidiasis, Partial IgA deficiency, Lack of T c... ORPHA:35078
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Increased circula... OMIM:617241
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Chung-Jansen Syndrome
Obesity OMIM:617991
Retinopathy, Pigmentary, And Mental Retardation
Truncal obesity OMIM:268050
Baralle-Macken Syndrome
Obesity OMIM:619255
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Obesity ORPHA:166024
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity OMIM:615980
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Retinitis Pigmentosa
Obesity ORPHA:791
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity ORPHA:2928
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent otitis media, Panhypoga... OMIM:600802
Wagr Syndrome
Obesity ORPHA:893
Laurence-Moon Syndrome
Obesity ORPHA:2377
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity ORPHA:1035
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity ORPHA:480907
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Bardet-Biedl Syndrome 9
Truncal obesity, Obesity OMIM:615986
Mental Retardation, Autosomal Recessive 13
Truncal obesity OMIM:613192
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urina... OMIM:613179
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Microtriplication 11Q24.1
Obesity ORPHA:289522
Temple Syndrome
Small for gestational age, Obesity ORPHA:254516
Narcolepsy 7
Obesity OMIM:614250
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Atkin-Flaitz Syndrome
Tall stature, Obesity OMIM:300431
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity ORPHA:3085
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity OMIM:618822
Pseudopseudohypoparathyroidism
Obesity OMIM:612463
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity ORPHA:2234
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity ORPHA:254531
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Abdominal obesity OMIM:300869
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Megalencephaly
Truncal obesity ORPHA:2477
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Truncal obesity, Small for gestational age, Obesity ORPHA:96184
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity ORPHA:171839
Leptin Receptor Deficiency
Obesity OMIM:614963
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
48,Xxyy Syndrome
Tall stature, Obesity ORPHA:10
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Chromosome 16P13.3 Deletion Syndrome, Proximal
Polysplenia, Failure to thrive, Obesity OMIM:610543
Shox-Related Short Stature
Obesity ORPHA:314795
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity OMIM:615547
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Truncal obesity, Failure to thrive ORPHA:189427
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Sepsis, Abnormal serum interleukin level, Abnormality of tum... ORPHA:70578
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity OMIM:614613
Subaortic Stenosis-Short Stature Syndrome
Obesity ORPHA:3191
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Senior-Loken Syndrome 9
Obesity OMIM:616629
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Obesity OMIM:615630
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent bronchopulmonary infections, Pyoderma, Reduced delayed hypersensit... OMIM:242700
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity OMIM:617157
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity ORPHA:2180
Carpenter Syndrome
Polysplenia, Obesity ORPHA:65759
Intellectual Developmental Disorder, X-Linked 12
Truncal obesity, Small for gestational age, Increased body mass index OMIM:300957
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Obesity ORPHA:66628
Acute Lung Injury
Increased circulating interleukin 6, Sepsis, Abnormality of serum cytokine level, Abnormality of ... ORPHA:178320
Urban-Rogers-Meyer Syndrome
Obesity ORPHA:3409
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Obesity ORPHA:777
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:412035
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Obesity OMIM:600122
Vici Syndrome
Cutaneous anergy, Recurrent fungal infections, Decreased circulating IgG2 level, Recurrent viral ... OMIM:242840
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Obesity ORPHA:179494
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Momo Syndrome
Overgrowth, Large for gestational age, Tall stature, Obesity ORPHA:2563
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity OMIM:618430
Immunodeficiency 58
Recurrent upper respiratory tract infections, Helicobacter pylori infection, Decreased specific a... OMIM:618131
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Obesity OMIM:618620
Laron Syndrome
Truncal obesity ORPHA:633
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity OMIM:300354
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Obesity OMIM:194072
15Q24 Microdeletion Syndrome
Small for gestational age, Failure to thrive, Obesity ORPHA:94065
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Truncal obesity ORPHA:3041
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Small for gestational age, Failure to thrive ORPHA:73272
Perrault Syndrome 4
Disproportionate tall stature, Obesity OMIM:615300
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Obesity ORPHA:34527
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Failure to thrive, Obesity OMIM:612938
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Proportionate tall stature, Obesity ORPHA:404443
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Xp22.13P22.2 Duplication Syndrome
Truncal obesity ORPHA:284180
Radio-Tartaglia Syndrome
Obesity OMIM:619312
Man1B1-Cdg
Truncal obesity ORPHA:397941
Cohen Syndrome
Childhood-onset truncal obesity, Small for gestational age, Neutropenia, Leukopenia OMIM:216550
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Desbuquois Dysplasia 1
Obesity OMIM:251450
Pde4D Haploinsufficiency Syndrome
Obesity ORPHA:439822
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Obesity ORPHA:552
Helsmoortel-Van Der Aa Syndrome
Obesity OMIM:615873
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity ORPHA:819
Adiposis Dolorosa
Obesity ORPHA:36397
Pseudohypoparathyroidism, Type Ic
Obesity OMIM:612462
Wiskott-Aldrich Syndrome
Recurrent herpes, Recurrent pneumonia, Increased circulating IgE level, Decreased specific anti-p... OMIM:301000
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Recurrent... OMIM:600903
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98855
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
48,Xxxy Syndrome
Tall stature, Obesity ORPHA:96263
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Obesity OMIM:141750
Pseudohypoparathyroidism, Type Ia
Obesity OMIM:103580
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Recurrent infections, Decreased specific anti-polysaccharide antibody l... OMIM:614576
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
19P13.12 Microdeletion Syndrome
Obesity ORPHA:254346
X-Linked Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98853
Silver-Russell Syndrome
Cachexia, Failure to thrive in infancy, Obesity ORPHA:813
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Abdominal obesity OMIM:301039
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:603909
Joubert Syndrome 8
Obesity OMIM:612291
Chops Syndrome
Obesity OMIM:616368
Kennerknecht Syndrome
Abdominal obesity OMIM:600908
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Obesity ORPHA:398079
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Obesity ORPHA:251004
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Obesity OMIM:219090
Down Syndrome
Acute megakaryocytic leukemia, Obesity ORPHA:870
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Insulin-Like Growth Factor I, Resistance To
Truncal obesity, Decreased body weight OMIM:270450
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Small for gestational age, Obesity ORPHA:26793
Carpenter Syndrome 1
Polysplenia, Obesity OMIM:201000
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent respiratory infections, Recurrent in... OMIM:612132
Angelman Syndrome
Obesity OMIM:105830
Kohlschutter-Tonz Syndrome-Like
Overweight, Decreased body weight, Obesity OMIM:619229
8P23.1 Microdeletion Syndrome
Weight loss, Obesity ORPHA:251071
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity ORPHA:85293
Borjeson-Forssman-Lehmann Syndrome
Truncal obesity ORPHA:127
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Obesity OMIM:619326
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:261197
Bardet-Biedl Syndrome
Obesity ORPHA:110
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Obesity ORPHA:96147
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
2Q37 Microdeletion Syndrome
Obesity ORPHA:1001
Kleefstra Syndrome 1
Obesity OMIM:610253
Peripartum Cardiomyopathy
Anemia, Obesity ORPHA:563
Cohen Syndrome
Neutropenia, Failure to thrive in infancy, Obesity ORPHA:193
Congenital Analbuminemia
Small for gestational age, Obesity ORPHA:86816
Achondroplasia
Obesity ORPHA:15
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Obesity ORPHA:457059
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity OMIM:610489
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity OMIM:618493
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity ORPHA:2822
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Anemia, Lymphopenia OMIM:616541
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive in infancy, Obesity OMIM:176270
Septo-Optic Dysplasia Spectrum
Obesity ORPHA:3157
3Q29 Microduplication Syndrome
Obesity ORPHA:251038
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections ORPHA:30
Cushing Disease
Truncal obesity, Failure to thrive ORPHA:96253
Kleefstra Syndrome
Obesity ORPHA:261494
Monosomy 13Q34
Obesity ORPHA:96168
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity OMIM:219080
Schimke Immuno-Osseous Dysplasia
Recurrent infections, Impaired T cell function, Abnormal lymphocyte physiology, Bone marrow hypoc... ORPHA:1830
Angelman Syndrome
Obesity ORPHA:72
White-Sutton Syndrome
Obesity ORPHA:468678
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Failure to thrive, Obesity ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small for gestational age, Failure to thrive, Obesity ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small for gestational age, Failure to thrive, Obesity ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small for gestational age, Failure to thrive, Obesity ORPHA:177901
Bardet-Biedl Syndrome 1
Obesity OMIM:209900
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Failure to thrive, Abdominal obesity ORPHA:398069
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Anemia ORPHA:2637
Xylt1-Cdg
Truncal obesity ORPHA:370930
Lysinuric Protein Intolerance
Hemophagocytosis, Thrombocytopenia, Truncal obesity, Splenomegaly, Leukopenia, Anemia, Failure to... OMIM:222700
Prader-Willi-Like Syndrome
Small for gestational age, Failure to thrive, Obesity ORPHA:398073
Kallmann Syndrome
Obesity ORPHA:478
Sheehan Syndrome
Normochromic anemia, Obesity ORPHA:91355
Bloom Syndrome
Acute myeloid leukemia, Small for gestational age, Abdominal obesity, Acute lymphoblastic leukemi... ORPHA:125
7Q11.23 Microduplication Syndrome
Obesity ORPHA:96121
Aromatase Deficiency
Eunuchoid habitus, Tall stature, Obesity ORPHA:91
Alstrom Syndrome
Truncal obesity OMIM:203800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity ORPHA:369837
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Truncal obesity, Obesity OMIM:309585
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
Dysbetalipoproteinemia
Obesity ORPHA:412
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Decreased T cell activation, Inc... OMIM:618213
Ulnar-Mammary Syndrome
Obesity ORPHA:3138
Distal Monosomy 12Q
Proportionate tall stature, Failure to thrive in infancy, Obesity ORPHA:96149
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Obesity OMIM:250420
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity ORPHA:369950
Prader-Willi Syndrome Due To Translocation
Obesity ORPHA:177907
Pseudohypoparathyroidism Type 1C
Obesity ORPHA:79444
Thyrotoxic Periodic Paralysis
Weight loss, Obesity ORPHA:79102
Craniopharyngioma
Obesity ORPHA:54595
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity OMIM:210720
Prader-Willi Syndrome
Failure to thrive, Abdominal obesity ORPHA:739
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Kabuki Syndrome
Failure to thrive, Obesity ORPHA:2322
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity OMIM:619269
Pseudohypoparathyroidism Type 1A
Obesity ORPHA:79443
22Q11.2 Deletion Syndrome
Thrombocytopenia, Hypoplasia of the thymus, Failure to thrive, Splenomegaly, Obesity ORPHA:567
Myhre Syndrome
Small for gestational age, Obesity OMIM:139210
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity OMIM:618653
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Xq21 Microdeletion Syndrome
Obesity ORPHA:1435
Beckwith-Wiedemann Syndrome
Polycythemia, Tall stature, Splenomegaly, Large for gestational age, Obesity ORPHA:116
Orotic Aciduria
Impaired T cell function OMIM:258900
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy ORPHA:529962
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Meningioma
Obesity ORPHA:2495
Chronic Thromboembolic Pulmonary Hypertension
Myeloproliferative disorder, Obesity ORPHA:70591
Witteveen-Kolk Syndrome
Small for gestational age, Obesity OMIM:613406
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Adnp Syndrome
Truncal obesity ORPHA:404448
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Obesity ORPHA:444077
1P36 Deletion Syndrome
Abnormality of the spleen, Failure to thrive, Obesity ORPHA:1606
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity ORPHA:1772
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Acrodysostosis With Multiple Hormone Resistance
Obesity ORPHA:280651
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity ORPHA:293987
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Obesity ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Obesity ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Obesity ORPHA:99228
Monosomy X
Failure to thrive in infancy, Obesity ORPHA:99226
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Abdominal obesity OMIM:619321
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Failure to thrive, Obesity ORPHA:353281
Williams Syndrome
Failure to thrive in infancy, Obesity ORPHA:904
Partial Deletion Of The Short Arm Of Chromosome 7
Obesity ORPHA:261911
Monosomy 22Q13.3
Obesity ORPHA:48652
Ulnar-Mammary Syndrome
Obesity OMIM:181450
Digeorge Syndrome
Obesity OMIM:188400
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Failure to thrive, Obesity ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Failure to thrive, Obesity ORPHA:353284
Carpenter Syndrome 2
Obesity OMIM:614976
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Weight loss ORPHA:99889
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Obesity OMIM:309580
Rubinstein-Taybi Syndrome 1
Truncal obesity, Failure to thrive, Leukemia OMIM:180849
Williams-Beuren Syndrome
Failure to thrive in infancy, Obesity OMIM:194050
Chromosome 1P36 Deletion Syndrome
Obesity OMIM:607872
Cornelia De Lange Syndrome
Truncal obesity, Failure to thrive ORPHA:199
Primrose Syndrome
Truncal obesity OMIM:259050
Pallister-Killian Syndrome
Obesity OMIM:601803
Alström Syndrome
Splenomegaly, Truncal obesity, Hepatosplenomegaly, Obesity ORPHA:64

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 Ptpn13

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 Ptpn13.

No publications found that use IMPC mice or data for Ptpn13.

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MGI Allele Allele Type Produced
Ptpn13tm402802(L1L2_Bact_P) Targeting vectors

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