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
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... OMIM:615615
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight 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
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Candidiasis, Familial, 1
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
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, Obesity, Eosinophilia OMIM:248100
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia,... OMIM:613501
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Narcolepsy Type 1
Obesity ORPHA:2073
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Summitt Syndrome
Obesity OMIM:272350
Reticular Dysgenesis
Lack of T cell function, Sepsis, Impaired T cell function OMIM:267500
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... OMIM:607271
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607594
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... OMIM:240500
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Halothane Hepatitis
Obesity, Eosinophilia OMIM:234350
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections OMIM:614493
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity ORPHA:171706
Immunodeficiency 61
Obesity OMIM:300310
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD69 upregulation upon TCR activ... OMIM:300853
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:209920
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Recurrent upper respiratory tract infections, Recurrent opportunistic in... ORPHA:277
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Adiposis Dolorosa
Obesity OMIM:103200
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Central Precocious Puberty
Increased body weight, Obesity, Overgrowth ORPHA:759
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections OMIM:242850
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Morm Syndrome
Truncal obesity ORPHA:75858
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71526
Immunodeficiency 96
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Trisomy 5P
Obesity ORPHA:1742
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Recurrent pro... ORPHA:572
Nephronophthisis 15
Obesity OMIM:614845
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Morbid Obesity And Spermatogenic Failure
Obesity OMIM:615703
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Macrocephaly/Autism Syndrome
Obesity, Lymphopenia, Splenomegaly OMIM:605309
Mehmo Syndrome
Obesity, Small for gestational age OMIM:300148
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Biemond Syndrome Type 2
Obesity ORPHA:141333
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Truncal obesity OMIM:618363
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Fryns Macrocephaly
Truncal obesity OMIM:600302
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Mehmo Syndrome
Obesity ORPHA:85282
Summitt Syndrome
Obesity, Tall stature ORPHA:3210
Bardet-Biedl Syndrome 21
Obesity, Overweight OMIM:617406
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k... OMIM:619374
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Temple Syndrome
Overweight, Truncal obesity, Small for gestational age OMIM:616222
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity OMIM:609734
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Growth Hormone Insensitivity Syndrome
Failure to thrive, Truncal obesity ORPHA:181393
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... OMIM:617241
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Chung-Jansen Syndrome
Obesity OMIM:617991
Baralle-Macken Syndrome
Obesity OMIM:619255
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Retinopathy, Pigmentary, And Mental Retardation
Truncal obesity OMIM:268050
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... OMIM:600802
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Clark-Baraitser Syndrome
Obesity OMIM:617752
Retinitis Pigmentosa
Obesity ORPHA:791
Rafiq Syndrome
Obesity, Truncal obesity OMIM:614202
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Laurence-Moon Syndrome
Obesity ORPHA:2377
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity ORPHA:480907
Wagr Syndrome
Obesity ORPHA:893
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity ORPHA:2928
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Temple Syndrome
Obesity, Small for gestational age ORPHA:254516
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial infections, Impair... OMIM:613179
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity OMIM:615986
Microtriplication 11Q24.1
Obesity ORPHA:289522
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity ORPHA:1035
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Obesity, Eunuchoid habitus ORPHA:2234
Pseudopseudohypoparathyroidism
Obesity OMIM:612463
Narcolepsy 7
Obesity OMIM:614250
Atkin-Flaitz Syndrome
Obesity, Tall stature OMIM:300431
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity OMIM:618822
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity ORPHA:3085
Thymic Aplasia
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Recurren... ORPHA:83471
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity ORPHA:254531
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age OMIM:300869
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Polysplenia, Obesity OMIM:610543
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Obesity, Truncal obesity, Small for gestational age ORPHA:96184
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Megalencephaly
Truncal obesity ORPHA:2477
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity ORPHA:171839
Combined Oxidative Phosphorylation Deficiency 54
Obesity OMIM:619737
Leptin Receptor Deficiency
Obesity OMIM:614963
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:601859
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Pyoderma, Reduced delayed hypersensitivity, Recurrent pneu... OMIM:242700
48,Xxyy Syndrome
Obesity, Tall stature ORPHA:10
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity OMIM:615812
Shox-Related Short Stature
Obesity ORPHA:314795
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Schaaf-Yang Syndrome
Obesity, Failure to thrive in infancy OMIM:615547
Carpenter Syndrome
Obesity, Polysplenia ORPHA:65759
Obesity Due To Congenital Leptin Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity OMIM:614613
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Splenomegaly OMIM:615630
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Truncal obesity, Small for gestational age OMIM:300957
Senior-Loken Syndrome 9
Obesity OMIM:616629
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells ORPHA:179494
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity OMIM:617157
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Subaortic Stenosis-Short Stature Syndrome
Obesity ORPHA:3191
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Urban-Rogers-Meyer Syndrome
Obesity ORPHA:3409
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
X-Linked Non-Syndromic Intellectual Disability
Obesity, Small for gestational age ORPHA:777
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity ORPHA:2180
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Obesity OMIM:618620
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity OMIM:615980
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:412035
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Obesity OMIM:600122
Vici Syndrome
Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec... OMIM:242840
15Q24 Microdeletion Syndrome
Failure to thrive, Obesity, Small for gestational age ORPHA:94065
Immunodeficiency 58
Onychomycosis, Recurrent upper respiratory tract infections, Helicobacter pylori infection, Decre... OMIM:618131
Joubert Syndrome 37
Obesity OMIM:619185
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Momo Syndrome
Large for gestational age, Overgrowth, Obesity, Tall stature ORPHA:2563
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity OMIM:300055
Perrault Syndrome 4
Obesity, Disproportionate tall stature OMIM:615300
Laron Syndrome
Truncal obesity ORPHA:633
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity OMIM:300354
Morgagni-Stewart-Morel Syndrome
Obesity ORPHA:77296
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Obesity OMIM:194072
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Truncal obesity ORPHA:3041
Tatton-Brown-Rahman Syndrome
Obesity, Myeloid leukemia, Proportionate tall stature ORPHA:404443
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Liver abscess ORPHA:69663
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Truncal obesity, Small for gestational age ORPHA:73272
Mody
Large for gestational age, Elevated hemoglobin A1c, Overweight, Obesity ORPHA:552
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Obesity ORPHA:163681
Radio-Tartaglia Syndrome
Obesity OMIM:619312
Luscan-Lumish Syndrome
Obesity, Overgrowth OMIM:616831
Cohen Syndrome
Leukopenia, Small for gestational age, Childhood-onset truncal obesity, Neutropenia OMIM:216550
Smith-Magenis Syndrome
Obesity, Failure to thrive in infancy ORPHA:819
Desbuquois Dysplasia 1
Obesity OMIM:251450
Pde4D Haploinsufficiency Syndrome
Obesity ORPHA:439822
Xp22.13P22.2 Duplication Syndrome
Truncal obesity ORPHA:284180
Man1B1-Cdg
Truncal obesity ORPHA:397941
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Momo Syndrome
Obesity, Overgrowth OMIM:157980
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Recurrent infect... OMIM:614576
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Pseudohypoparathyroidism, Type Ic
Obesity OMIM:612462
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
19P13.12 Microdeletion Syndrome
Obesity ORPHA:254346
Helsmoortel-Van Der Aa Syndrome
Obesity OMIM:615873
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Abdominal obesity, Disproportionate tall stature OMIM:301039
48,Xxxy Syndrome
Obesity, Tall stature ORPHA:96263
Joubert Syndrome 8
Obesity OMIM:612291
Adiposis Dolorosa
Obesity ORPHA:36397
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Bdv Syndrome
Obesity OMIM:619326
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Pseudohypoparathyroidism, Type Ia
Obesity OMIM:103580
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98855
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:603909
Silver-Russell Syndrome
Obesity, Failure to thrive in infancy, Cachexia ORPHA:813
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Kennerknecht syndrome
Abdominal obesity OMIM:600908
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
Carpenter Syndrome 1
Obesity, Polysplenia OMIM:201000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Obesity, Overweight, Small for gestational age ORPHA:26793
Down Syndrome
Obesity, Acute megakaryocytic leukemia ORPHA:870
X-Linked Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:261
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Episodic hemolytic anemia ORPHA:251004
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98853
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Obesity OMIM:219090
Bardet-Biedl Syndrome
Obesity ORPHA:110
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
White-Sutton Syndrome
Failure to thrive, Obesity OMIM:616364
Angelman Syndrome
Obesity OMIM:105830
Insulin-Like Growth Factor I, Resistance To
Decreased body weight, Truncal obesity OMIM:270450
Kohlschutter-Tonz Syndrome-Like
Obesity, Decreased body weight, Overweight OMIM:619229
Borjeson-Forssman-Lehmann Syndrome
Truncal obesity ORPHA:127
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Obesity ORPHA:398079
Peripartum Cardiomyopathy
Obesity, Anemia ORPHA:563
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:261197
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Obesity ORPHA:96147
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Achondroplasia
Obesity ORPHA:15
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
2Q37 Microdeletion Syndrome
Obesity ORPHA:1001
Kleefstra Syndrome 1
Obesity OMIM:610253
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastrointestinal tr... OMIM:612132
Cohen Syndrome
Obesity, Failure to thrive in infancy, Neutropenia ORPHA:193
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Congenital Analbuminemia
Obesity, Small for gestational age ORPHA:86816
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity OMIM:618493
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Obesity ORPHA:457059
Septo-Optic Dysplasia Spectrum
Obesity ORPHA:3157
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight ORPHA:2822
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Lymphopenia, Truncal obesity OMIM:616541
Monosomy 13Q34
Obesity ORPHA:96168
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections ORPHA:30
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity OMIM:219080
Bardet-Biedl Syndrome 1
Abdominal obesity, Obesity, Truncal obesity OMIM:209900
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Obesity OMIM:612469
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity OMIM:610475
Prader-Willi Syndrome
Abdominal obesity, Obesity, Failure to thrive in infancy OMIM:176270
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Angelman Syndrome
Obesity ORPHA:72
Kleefstra Syndrome
Obesity ORPHA:261494
Chops Syndrome
Obesity, Splenomegaly OMIM:616368
3Q29 Microduplication Syndrome
Obesity ORPHA:251038
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function, Recurrent ... ORPHA:1830
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... OMIM:618213
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Impaired T cell function OMIM:201100
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Obesity, Small for gestational age ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Obesity, Small for gestational age ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Obesity, Small for gestational age ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Obesity, Small for gestational age ORPHA:177901
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
White-Sutton Syndrome
Obesity ORPHA:468678
Prader-Willi-Like Syndrome
Failure to thrive, Obesity, Small for gestational age ORPHA:398073
Xylt1-Cdg
Truncal obesity ORPHA:370930
Lysinuric Protein Intolerance
Failure to thrive, Hemophagocytosis, Splenomegaly, Leukopenia, Truncal obesity, Anemia, Thrombocy... OMIM:222700
Bloom Syndrome
Abdominal obesity, Abnormal proportion of CD8-positive T cells, Small for gestational age, Absces... ORPHA:125
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Increased body weight, Failure to thrive ORPHA:398069
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Anemia, Truncal obesity ORPHA:2637
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity OMIM:610489
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Increased body weight ORPHA:189427
Kallmann Syndrome
Obesity ORPHA:478
Sheehan Syndrome
Obesity, Normochromic anemia ORPHA:91355
7Q11.23 Microduplication Syndrome
Obesity ORPHA:96121
Dysbetalipoproteinemia
Obesity ORPHA:412
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Alstrom Syndrome
Truncal obesity OMIM:203800
Aromatase Deficiency
Obesity, Eunuchoid habitus, Tall stature ORPHA:91
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Truncal obesity ORPHA:466950
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity ORPHA:369837
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189439
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity, Hepatosplenomegaly OMIM:301066
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Prader-Willi Syndrome Due To Translocation
Obesity ORPHA:177907
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Obesity OMIM:250420
Ulnar-Mammary Syndrome
Obesity ORPHA:3138
Distal Monosomy 12Q
Obesity, Failure to thrive in infancy, Proportionate tall stature ORPHA:96149
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity ORPHA:369950
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Thrombocytopenia, Truncal obesity, Splenomegaly OMIM:301072
Bardet-Biedl Syndrome 20
Obesity OMIM:619471
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive ORPHA:739
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity OMIM:210720
Cushing Disease
Abdominal obesity, Lymphopenia, Leukocytosis, Truncal obesity, Increased body weight, Decreased e... ORPHA:96253
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Obesity, Failure to thrive, Decreased body weight, Overweight OMIM:619475
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Pseudohypoparathyroidism Type 1C
Obesity ORPHA:79444
Craniopharyngioma
Obesity ORPHA:54595
22Q11.2 Deletion Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Obesity, Thrombocytopenia ORPHA:567
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity OMIM:619269
Kabuki Syndrome
Failure to thrive, Obesity ORPHA:2322
Pseudohypoparathyroidism Type 1A
Obesity ORPHA:79443
Partial Deletion Of The Short Arm Of Chromosome 7
Obesity ORPHA:261911
White-Kernohan Syndrome
Obesity OMIM:619426
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity OMIM:618653
Xq21 Microdeletion Syndrome
Obesity ORPHA:1435
Orotic Aciduria
Impaired T cell function OMIM:258900
Myhre Syndrome
Obesity, Small for gestational age OMIM:139210
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Chronic Thromboembolic Pulmonary Hypertension
Myeloproliferative disorder, Obesity ORPHA:70591
Beckwith-Wiedemann Syndrome
Tall stature, Splenomegaly, Polycythemia, Large for gestational age, Obesity ORPHA:116
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Adnp Syndrome
Truncal obesity ORPHA:404448
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Truncal obesity ORPHA:529962
Meningioma
Obesity ORPHA:2495
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Obesity ORPHA:444077
1P36 Deletion Syndrome
Obesity, Failure to thrive, Abnormality of the spleen ORPHA:1606
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Leukocytosis OMIM:619321
Rubinstein-Taybi Syndrome 1
Failure to thrive, Small for gestational age, Accessory spleen, Truncal obesity, Leukemia OMIM:180849
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity ORPHA:1772
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
Obesity, Failure to thrive in infancy ORPHA:99413
Turner Syndrome
Obesity, Failure to thrive in infancy ORPHA:881
Mosaic Monosomy X
Obesity, Failure to thrive in infancy ORPHA:99228
Monosomy X
Obesity, Failure to thrive in infancy ORPHA:99226
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Lymphopenia, Leukocytosis, Truncal obesity, Increased body weight, Weight loss... ORPHA:99889
Monosomy 22Q13.3
Obesity ORPHA:48652
Williams Syndrome
Obesity, Failure to thrive in infancy ORPHA:904
Digeorge Syndrome
Splenomegaly, Hypoplasia of the thymus, Obesity, Anemia, Thrombocytopenia OMIM:188400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Failure to thrive, Obesity ORPHA:353281
Ulnar-Mammary Syndrome
Obesity OMIM:181450
Chromosome 1P36 Deletion Syndrome, Distal
Obesity OMIM:607872
Witteveen-Kolk Syndrome
Obesity, Small for gestational age OMIM:613406
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Failure to thrive, Obesity ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Failure to thrive, Obesity ORPHA:353277
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Obesity OMIM:309580
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Carpenter Syndrome 2
Obesity OMIM:614976
Williams-Beuren Syndrome
Obesity, Failure to thrive in infancy OMIM:194050
Cornelia De Lange Syndrome
Failure to thrive, Truncal obesity ORPHA:199
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359
Pallister-Killian Syndrome
Obesity OMIM:601803
Primrose Syndrome
Truncal obesity OMIM:259050
Alström Syndrome
Obesity, Hepatosplenomegaly, Truncal obesity, Splenomegaly 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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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