Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Hdac6 MGI:1333752

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

histone deacetylase 6

Synonyms:

mHDA2, Sfc6

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Hdac6 mutations

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

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

Human diseases associated with Hdac6 (2 diseases)
Human diseases predicted to be associated with Hdac6 (499 diseases)

The table below shows human diseases associated to Hdac6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia		Decreased skull ossification	OMIM:300863
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type			ORPHA:163966

The table below shows human diseases predicted to be associated to Hdac6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Specific Language Impairment 2	Deficit in phonologic short-term memory	OMIM:606712
Specific Language Impairment 1	Deficit in phonologic short-term memory	OMIM:606711
7q11.23 duplication syndrome	Short attention span	DECIPHER:43
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant	Dementia, Cognitive impairment	OMIM:618564
Immunodeficiency 61	Decreased circulating total IgM, Obesity, Decreased circulating IgG2 level, Decreased circulating...	OMIM:300310
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:613494
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity, Increased bone mineral density	OMIM:618406
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Caspase 8 Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Reduced CD95...	OMIM:607271
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteosclerotic Metaphyseal Dysplasia	Clavicular sclerosis, Failure to thrive, Increased bone mineral density	OMIM:615198
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:618987
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:619707
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:613502
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul...	OMIM:300400
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,...	OMIM:613493
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM	OMIM:613500
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Sclerosteosis	Tall stature, Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone minera...	ORPHA:3152
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir...	OMIM:618944
Immunodeficiency 62	Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,...	OMIM:618459
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Osteopenia, Failure to thrive, Increased circulating IgE level, ...	ORPHA:98813
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:612692
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Melorheostosis	Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti...	ORPHA:2485
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Immunodeficiency 18	Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ...	OMIM:615615
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Joint stiffness, Joint hypermobility, Decreased circulating tota...	OMIM:620210
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu...	ORPHA:2790
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency 70	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Flynn-Aird Syndrome	Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral...	OMIM:136300
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level	OMIM:242870
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti...	OMIM:240500
Osteopetrosis, Autosomal Dominant 2	Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long ...	OMIM:166600
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone	ORPHA:564003
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Craniosynostosis, Increased bone mineral density	ORPHA:178377
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Joint stiffness, Obesity	ORPHA:1078
Mueller-Weiss Syndrome	Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A...	ORPHA:566943
Immunodeficiency 14B, Autosomal Recessive	Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ...	OMIM:619281
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Failure to thrive in infancy, Decreased circulating IgA level, O...	OMIM:619510
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Decreased circulating total IgM	OMIM:617638
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros...	OMIM:607634
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Schnitzler Syndrome	Increased bone mineral density, Increased circulating IgM level, Arthritis	ORPHA:37748
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Immunodeficiency 11A	Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife...	OMIM:615206
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Bone marrow hypocellularity, Increased bone mineral density, Hyperostosis craniali...	OMIM:231095
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Immunodeficiency 112	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620449
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:607594
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	OMIM:619752
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Osteomyelitis, Complete or near-complete absence of specific ant...	OMIM:301081
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:618394
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min...	ORPHA:210110
Immunodeficiency 96	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619774
Immunodeficiency 102	Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir...	OMIM:301082
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Osteolysis	ORPHA:158014
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Decreased circulating IgA level, Arthritis, Decreased circulatin...	OMIM:616100
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Failure to thrive, Absent isohemagglutinin level	OMIM:613501
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul...	OMIM:144750
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia	OMIM:619705
Mu-Heavy Chain Disease	Osteoporosis, Weight loss, Osteolysis, Increased circulating antibody level	ORPHA:100024
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Small for gestational age	OMIM:300076
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Increased circulating IgE level, Reduced delayed hypersensitivity, ...	OMIM:617241
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Small for gestational age, Generalized bone demineralization	OMIM:215250
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l...	OMIM:612301
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul...	OMIM:615513
Immunodeficiency 22	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased ci...	OMIM:615758
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu...	ORPHA:331206
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgA level...	OMIM:612783
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to po...	ORPHA:70593
Immunodeficiency 9	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:612782
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618261
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Arthritis, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl...	OMIM:601457
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Failure to thrive	OMIM:615767
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Immunodeficiency 64 With Lymphoproliferation	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu...	OMIM:618534
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:620282
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level, Failure to thrive	OMIM:617744
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity, Osteoarthritis	ORPHA:2206
Immunodeficiency 46	Decreased circulating antibody level, Failure to thrive	OMIM:616740
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Flexion contracture, Transient hypogammaglobulinemia of infancy	OMIM:251240
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Obesity	ORPHA:88643
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Immunodeficiency 52	Decreased circulating IgA level, Defective T cell proliferation, Failure to thrive, Decreased cir...	OMIM:617514
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial o...	OMIM:259700
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Failure to thrive, Abnormal c...	OMIM:308230
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age	OMIM:256450
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Small for gestational age, Increased bone mineral density	OMIM:616943
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Decreased circulating IgA level, Weight loss, Decreased circulat...	ORPHA:90362
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Failure to thrive, Increased circulating IgE level, Osteomyelitis, Decreased circulating total Ig...	OMIM:243700
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased sp...	OMIM:614700
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:275350
Majeed Syndrome	Failure to thrive, Osteomyelitis, Increased susceptibility to fractures, Synovitis, Cachexia, Wei...	ORPHA:77297
Otopalatodigital Syndrome Type 1	Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma...	ORPHA:90650
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Joint hypermobility, Decreased body weight, Limitation of knee mo...	OMIM:614856
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating tota...	ORPHA:221139
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620040
Lambert Syndrome	Failure to thrive in infancy, Decreased circulating antibody level	ORPHA:1296
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:436159
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Joint hypermobility	OMIM:620065
Chondrodysplasia, Blomstrand Type	Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis	OMIM:215045
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Camurati-Engelmann Disease	Bone marrow hypocellularity, Slender build, Sclerosis of skull base, Cortical thickening of long ...	OMIM:131300
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Limitation of joint mobility, Failure to thrive, Osteoarthritis of the distal...	ORPHA:93284
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis, Decreased body weight	OMIM:617306
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased ci...	OMIM:607143
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age	OMIM:601820
Immunodeficiency 48	Failure to thrive, Panhypogammaglobulinemia	OMIM:269840
Maternal Uniparental Disomy Of Chromosome 1	Epiphyseal stippling, Failure to thrive, Panhypogammaglobulinemia	ORPHA:251009
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Failure to thrive, Arthritis, Decreased circulating antibody level	ORPHA:397596
Immunodeficiency 97 With Autoinflammation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619802
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Sclerosis of skull base, Delayed pubic bone ossification, Knee flexion contrac...	OMIM:618162
Reticular Dysgenesis	Weight loss, Failure to thrive, Decreased circulating antibody level	ORPHA:33355
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Failure to thrive	OMIM:615085
Immunodeficiency 43	Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp...	OMIM:241600
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618108
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Complete or near-complete absence of ...	OMIM:615468
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Septic arthritis, Decreased circulating IgA level, Agammaglobuli...	OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ...	ORPHA:35078
Immunodeficiency 47	Decreased circulating total IgG, Failure to thrive, Chronic decreased circulating total IgG, Join...	OMIM:300972
Immunodeficiency 27A	Increased circulating IgG level, Weight loss, Salmonella osteomyelitis, Increased circulating IgM...	OMIM:209950
Diastrophic Dysplasia	Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger	ORPHA:628
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Increased b...	ORPHA:1782
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o...	ORPHA:85188
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Increased circulating IgG level	OMIM:618982
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Osteomyelitis, Generalized osteosclerosis, Arthritis, Osteoarthritis, R...	ORPHA:53
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level	OMIM:619846
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level	OMIM:617006
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Failure to thrive, Increased circulating IgE level, Decreased circulating IgA level, Decreased ci...	OMIM:102700
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Increased circulating IgE level, Obesity, Osteoporosis, Recurrent fractu...	ORPHA:3409
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification	ORPHA:163649
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Failure to thrive, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent...	OMIM:239000
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas...	OMIM:259710
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level	OMIM:616873
Pseudopseudohypoparathyroidism	Obesity, Ectopic ossification	ORPHA:79445
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Proteasome-Associated Autoinflammatory Syndrome 2	Abnormal circulating IgM level, Increased circulating IgG level, Increased circulating IgA level,...	OMIM:618048
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Macrocephaly/Autism Syndrome	Obesity, Large for gestational age, Joint hypermobility, Overgrowth, Decreased circulating antibo...	OMIM:605309
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Obesity, Decreased circulating IgA level, Joint hypermobility, Decreased circulating ...	ORPHA:369837
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant...	OMIM:613496
Immunodeficiency 115 With Autoinflammation	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir...	OMIM:620632
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased body weight, Osteoporosis, Abdominal obesity	OMIM:615954
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Failure to thrive	OMIM:619693
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Pseudohypoparathyroidism Type 1B	Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis	ORPHA:94089
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:601859
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Ataxia-Pancytopenia Syndrome	Decreased circulating antibody level, Abnormal platelet function	ORPHA:2585
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre...	ORPHA:508533
Summitt Syndrome	Tall stature, Obesity, Craniosynostosis, Camptodactyly of finger	ORPHA:3210
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level	OMIM:301045
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Riddle Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Weight loss, Arthritis, Decreas...	ORPHA:420741
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Pycnodysostosis	Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized...	ORPHA:763
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Decreased circulating antibody level, Dysgammaglobulinemia, Redu...	OMIM:308240
Multiple Myeloma	Osteopenia, Pathologic fracture, Tall stature, Weight loss, Increased circulating IgA level, Incr...	ORPHA:29073
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Decreased circulatin...	ORPHA:3261
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Decreased circulating antibody level, Abnormal natural killer cell physiology	OMIM:613101
Poems Syndrome	Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Increased circulating an...	ORPHA:2905
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Rheumatoid arthr...	ORPHA:183675
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:618116
Alpha-Heavy Chain Disease	Dysgammaglobulinemia	ORPHA:100025
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu...	ORPHA:169160
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Abdominal obesity, Decreased ci...	ORPHA:125
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis, Obesity	OMIM:610628
Cernunnos-Xlf Deficiency	Decreased circulating antibody level	ORPHA:169079
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased body weight, Epiphyseal stippling, Small for gestational age	OMIM:274300
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Juvenile rheumatoid arthritis, Decreased circulating IgG level, Decreased circulating IgA level, ...	ORPHA:275
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:210900
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Childhood-onset truncal obesity	ORPHA:71529
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper...	ORPHA:2780
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased specific ...	OMIM:300853
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Xq28 (MECP2) duplication	Decreased circulating IgA level, Failure to thrive	DECIPHER:45
Werner Syndrome	Osteoporosis, Slender build, Joint stiffness, Increased bone mineral density	ORPHA:902
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Pseudopseudohypoparathyroidism	Osteoporosis, Obesity	OMIM:612463
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Osteopenia, Osteoporosis	OMIM:615830
Roifman Syndrome	Decreased circulating antibody level, Delayed proximal femoral epiphyseal ossification, Hip contr...	ORPHA:353298
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level	OMIM:300635
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Ataxia-Telangiectasia	Decreased circulating antibody level, Failure to thrive	ORPHA:100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Failure to thrive	OMIM:618495
Ring Chromosome 21 Syndrome	Decreased circulating antibody level, Fused thoracic vertebrae	ORPHA:1445
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture...	OMIM:224300
Autosomal Agammaglobulinemia	Agammaglobulinemia, Osteomyelitis, Failure to thrive, Arthritis	ORPHA:33110
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati...	ORPHA:169154
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures, Increased circ...	ORPHA:77261
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Osteo...	OMIM:619381
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level	OMIM:616576
Selective Igm Deficiency	Paraproteinemia, Rheumatoid arthritis, Decreased specific antibody response to vaccination, Decre...	ORPHA:331235
Secondary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:90363
Agammaglobulinemia 1, Autosomal Recessive	Agammaglobulinemia, Decreased circulating antibody level, Failure to thrive, Panhypogammaglobulin...	OMIM:601495
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level	ORPHA:1116
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Decreased circulating antibody level	OMIM:617780
Desmosterolosis	Increased bone mineral density, Osteopetrosis, Failure to thrive	ORPHA:35107
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight, Generalized joint hypermobility	ORPHA:589905
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Increased circulating IgM level, Failure to thrive	OMIM:242860
Mhc Class Ii Deficiency 1	Agammaglobulinemia, Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia	OMIM:209920
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620005
Dysostosis, Stanescu Type	Increased bone mineral density, Massively thickened long bone cortices	ORPHA:1798
Morgagni-Stewart-Morel Syndrome	Osteoporosis, Obesity, Hyperostosis frontalis interna, Osteoarthritis	ORPHA:77296
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu...	ORPHA:276
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Failure to thrive, Decreased lymphocyte proliferation in response to anti-CD3, ...	OMIM:600802
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Limitation of movement at ankles, Limited hip movement, Limited ...	ORPHA:206594
X-Linked Agammaglobulinemia	Failure to thrive, Osteomyelitis, Agammaglobulinemia, Weight loss, Arthritis	ORPHA:47
Trichothiodystrophy	Osteopenia, Panhypogammaglobulinemia, Multiple joint contractures, Increased bone mineral density...	ORPHA:33364
Kenny-Caffey Syndrome, Type 2	Thickened cortex of long bones, Small for gestational age, Increased bone mineral density	OMIM:127000
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body weight, Increased body mass index	OMIM:614450
12Q14 Microdeletion Syndrome	Osteopoikilosis, Failure to thrive	ORPHA:94063
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Osteomyelitis, Decreased circulating IgA level, Joint hypermobility	OMIM:618282
Senior-Loken Syndrome 9	Osteopenia, Obesity	OMIM:616629
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:603909
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Failure to thrive, Decreased circulating IgA l...	OMIM:620376
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Failu...	ORPHA:572
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Craniofacial osteosclerosis, Increased skull ossification, Diaphyseal sclerosis	OMIM:618476
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ...	OMIM:301000
Gaucher Disease	Osteopenia, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, Increased circulatin...	ORPHA:355
Angiostrongyliasis	Stiff neck, Increased circulating specific IgE antibody, Increased circulating IgA level, Increas...	ORPHA:74
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Osteopetrosis, Cranial hyperostosis, Decreased osteoclast count	OMIM:259720
Pseudohypoparathyroidism Type 1A	Ectopic ossification, Obesity, Reduced bone mineral density, Increased bone mineral density, Abno...	ORPHA:79443
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Failure to thrive, Camptodactyly of finger, Carpal synostosis, Increa...	ORPHA:90652
Immunodeficiency 114, Folate-Responsive	Increased circulating IgE level, Decreased circulating IgG level	OMIM:620603
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:619767
Immunodeficiency 56	Failure to thrive, Panhypogammaglobulinemia	OMIM:615207
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Immunodeficiency 67	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:607676
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level	OMIM:616005
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Schwartz-Jampel Syndrome	Shoulder flexion contracture, Joint stiffness, Hip contracture, Decreased body weight, Wrist flex...	ORPHA:800
Erdheim-Chester Disease	Increased bone mineral density, Weight loss, Osteolysis, Osteomyelitis	ORPHA:35687
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level	OMIM:615122
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Immunodeficiency 23	Failure to thrive, Increased circulating IgE level, Joint hypermobility, Increased circulating Ig...	OMIM:615816
Perrault Syndrome 4	Osteoporosis, Obesity, Disproportionate tall stature	OMIM:615300
Osteopetrosis, Autosomal Recessive 3	Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis	OMIM:259730
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight	ORPHA:276608
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Osteoporosis, Obesity, Reduced bone mineral density, Recurrent fractures	ORPHA:2235
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m...	ORPHA:2658
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Elevated circulating C-reactive protein concentration, Abnormal circulating interleukin concentra...	ORPHA:85435
Thymoma	Rheumatoid arthritis, Abnormal lymphocyte physiology, Weight loss, Decreased circulating antibody...	ORPHA:99867
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level, Recurrent fractures	OMIM:606056
Alg12-Cdg	Failure to thrive, Abnormal circulating IgM level, Complete or near-complete absence of specific ...	ORPHA:79324
Schimke Immunoosseous Dysplasia	Abnormal immunoglobulin level, Decreased circulating antibody level, Small for gestational age, O...	OMIM:242900
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Increased circulating IgA level, Increased circulating IgM level	OMIM:617099
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Failure to thrive	OMIM:256500
Smith-Kingsmore Syndrome	Large for gestational age, Decreased circulating IgA level	OMIM:616638
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat...	ORPHA:542323
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Reduced bone mineral density	ORPHA:935
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Osteo...	ORPHA:79329
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Obesity, Ectopic ossification	ORPHA:79444
Hereditary Folate Malabsorption	Decreased circulating antibody level, Failure to thrive	ORPHA:90045
Desmosterolosis	Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita, Fa...	OMIM:602398
Zika Virus Disease	Increased circulating IgM level, Arthritis	ORPHA:448237
X-Linked Hypophosphatemia	Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios...	ORPHA:89936
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Failure to thrive, Contracture of the distal interphalangeal joint of t...	ORPHA:83617
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Myelofibrosis	OMIM:301078
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Failure to thrive, Decreased circulating IgA level, Osteoporosis, Flexion contracture	OMIM:613327
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level, Failure to thrive	OMIM:617388
Celiac Disease, Susceptibility To, 1	Rickets, Failure to thrive, Decreased circulating IgA level, Weight loss, Osteoporosis	OMIM:212750
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Decreased circulating antibody level	OMIM:619750
Raine Syndrome	Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation	OMIM:259775
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Decreased circulating IgA level	ORPHA:457485
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Vici Syndrome	Decreased circulating IgG level, Joint stiffness, Decreased circulating IgG2 level	ORPHA:1493
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion...	ORPHA:540
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:613011
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Increased body weight, Large for gestational age, Hypophosphatemic rickets	ORPHA:263455
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Joint stiffness, Increased circulating IgA level, Failure to thrive	OMIM:615934
Wilson Disease	Failure to thrive, Pathologic fracture, Increased body weight, Weight loss, Arthritis	ORPHA:905
Griscelli Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level	ORPHA:381
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level	OMIM:618165
Congenital Analbuminemia	Obesity, Small for gestational age, Increased circulating antibody level	ORPHA:86816
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Failure to thrive, Panhypogammaglobulinemia	OMIM:602450
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level, Delayed ossification of carpal bones	OMIM:617425
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased lymphocyte proliferati...	OMIM:618986
Atypical Werner Syndrome	Limitation of joint mobility, Failure to thrive, Sclerosis of hand bone, Decreased body weight, O...	ORPHA:79474
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Failure to thrive in infancy, Decreased circulating IgA level, Camptodactyly, Limited elbow exten...	OMIM:613385
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Increased bone mineral density	ORPHA:50945
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density	OMIM:620558
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Joint hyperm...	OMIM:617062
Aromatase Deficiency	Delayed epiphyseal ossification, Osteopenia, Tall stature, Obesity, Eunuchoid habitus, Osteoporosis	ORPHA:91
Immunodeficiency 58	Decreased T cell activation, Decreased specific antibody response to vaccination, Failure to thri...	OMIM:618131
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Osteopenia, Failure to thrive, Decreased circulating IgA level, ...	OMIM:212065
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Rickets	OMIM:616026
Sclerosteosis 1	Overgrowth, Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cr...	OMIM:269500
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration	ORPHA:319552
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Failure to thrive, Increased circulating IgE level, Decreased T cell activation, Defective T cell...	OMIM:618213
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Elbow flexion contracture, Knee flexion contracture, Transient h...	ORPHA:3132
Smith-Magenis Syndrome	Increased body weight	OMIM:182290
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures, Failure to thrive	ORPHA:416
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Icf Syndrome	Decreased circulating antibody level	ORPHA:2268
Autoimmune Hepatitis	Increased circulating IgG level, Arthritis, Increased circulating antibody level	ORPHA:2137
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Abnormality of body weight, Decreased bo...	ORPHA:2298
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration	ORPHA:85410
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Autoimmune Polyendocrinopathy Type 4	Rheumatoid arthritis, Osteopenia, Decreased circulating antibody level	ORPHA:227990
Cartilage-Hair Hypoplasia	Failure to thrive, Limited elbow extension, Joint hypermobility, Abnormal bone ossification, Decr...	ORPHA:175
Distal Deletion 19P	Decreased circulating antibody level, Joint hypermobility	ORPHA:96129
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Decreased circulating antibody level	OMIM:615952
Pgm3-Cdg	Bone marrow hypocellularity, Failure to thrive, Increased circulating IgE level, Osteomyelitis, I...	ORPHA:443811
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level	OMIM:226300
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Agammaglobulinemia, Decreased circulating antibody level	OMIM:243150
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Osteoporosis, Increased susceptibility to fractures, Abdominal obesity	ORPHA:189427
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Flexion contracture, Increased circulating IgM level	OMIM:617303
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Failure to thrive, Increased body weight, Abdominal obesity, Osteoporosis, Flexion co...	ORPHA:398069
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Failure to thrive in infancy, Panhypogammaglobulinemia, Abnormal circulating interleukin concentr...	ORPHA:79124
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Flexion contracture, Small for gestational age	OMIM:601675
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Decreased circulating antibody level, Failure to thrive	ORPHA:79396
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Osteopenia, Limited elbow extension, Laryngotracheomalacia, Dela...	OMIM:271510
Sotos Syndrome	Increased body weight, Tall stature, Joint hypermobility, Overgrowth	OMIM:117550
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Osteopenia, Decreased circulating antibody level	ORPHA:227982
Monosomy 18Q	Slender build, Decreased circulating IgA level, Failure to thrive, Joint hypermobility	ORPHA:1600
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Hyperbilirubinemia, Increased serum bile acid con...	ORPHA:69665
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Decreased c...	OMIM:208900
Lysinuric Protein Intolerance	Osteopenia, Abnormality of humoral immunity, Failure to thrive, Pathologic fracture, Reduced circ...	ORPHA:470
Insulinoma	Increased body weight	ORPHA:97279
Williams Syndrome	Synostosis of joints, Osteopenia, Failure to thrive in infancy, Obesity, Joint stiffness, Joint h...	ORPHA:904
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Increased body weight, Osteoporosis, Failure to thrive	ORPHA:264580
Primary Biliary Cholangitis	Osteoporosis, Increased circulating IgA level, Increased circulating IgM level	ORPHA:186
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Increased body weight, Osteoporosis	ORPHA:79240
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Japanese Encephalitis	Stiff neck, Increased circulating IgM level, Elbow flexion contracture, Increased circulating ant...	ORPHA:79139
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Joint stiffness, Flexion contractur...	ORPHA:505248
Common Variable Immunodeficiency	Failure to thrive in infancy, Decreased circulating antibody level	ORPHA:1572
Mannosidosis, Alpha B, Lysosomal	Decreased circulating antibody level	OMIM:248500
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Septic arthritis, Panhypogammaglobulinemia	OMIM:307200
Brucellosis	Hip osteoarthritis, Failure to thrive, Sacroiliac arthritis, Osteomyelitis, Knee osteoarthritis, ...	ORPHA:1304
Good Syndrome	Decreased circulating antibody level	ORPHA:169105
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Recurrent fractures, Osteopetrosis, Failure to thrive	ORPHA:2785
Cowden Syndrome 1	Decreased circulating antibody level	OMIM:158350
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Decreased circulating antibody level	OMIM:616084
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating antibody level, Failure to thrive	ORPHA:293978
Autosomal Recessive Malignant Osteopetrosis	Craniosynostosis, Osteopetrosis, Reduced bone mineral density, Recurrent fractures	ORPHA:667
Coccidioidomycosis	Osteomyelitis, Arthritis, Increased circulating IgG level, Increased circulating IgM level, Osteo...	ORPHA:228123
Tick-Borne Encephalitis	Stiff neck, Increased circulating IgG level, Increased circulating IgM level, Abnormal circulatin...	ORPHA:297
Primary Sclerosing Cholangitis	Osteoporosis, Osteopenia, Weight loss, Polyclonal elevation of IgM	ORPHA:171
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Failure to thrive, Decreased circulating IgG2 ...	OMIM:242840
Trichohepatoenteric Syndrome 1	Decreased circulating antibody level, Small for gestational age, Failure to thrive	OMIM:222470
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Schinzel-Giedion Midface Retraction Syndrome	Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones, Failure...	OMIM:269150
Faciocardiomelic Syndrome	Osteopenia, Large for gestational age, Thin bony cortex	OMIM:612731
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Weight loss, Increased circulating IgA level, Increased circula...	ORPHA:79078
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Failure to thrive, Increased circulating inter...	OMIM:256040
Hennekam Syndrome	Craniosynostosis, Decreased circulating antibody level, Camptodactyly of finger	ORPHA:2136
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Igg4-Related Kidney Disease	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449395
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level, Arthritis	OMIM:615688
Primary Sjögren Syndrome	Reduced circulating complement concentration, Decreased circulating antibody level, Increased cir...	ORPHA:289390
Sponastrime Dysplasia	Delayed epiphyseal ossification, Ivory epiphyses of the phalanges of the hand, Limited elbow exte...	ORPHA:93357
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:223370
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Failure to thrive in infancy, Decreased circulating antibody level	ORPHA:247598
Syndromic Diarrhea	Small for gestational age, Panhypogammaglobulinemia	ORPHA:84064
Thrombocytopenia-Absent Radius Syndrome	Decreased circulating antibody level, Fused cervical vertebrae, Carpal synostosis	OMIM:274000
Whim Syndrome	Decreased circulating antibody level	ORPHA:51636
Cushing Disease	Increased body weight, Osteoporosis, Truncal obesity, Abdominal obesity	ORPHA:96253
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive	OMIM:618278
Nijmegen Breakage Syndrome	Dysgammaglobulinemia	OMIM:251260
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Failure to thrive in infancy, Secretory IgA deficiency, Joint hy...	ORPHA:500150
Hellp Syndrome	Increased body weight	ORPHA:244242
Crimean-Congo Hemorrhagic Fever	Stiff neck, Increased circulating IgG level, Increased circulating IgM level	ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion	Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Osteoporosis	ORPHA:99889
Viss Syndrome	Failure to thrive, Increased circulating IgE level, Decreased circulating IgA level, Generalized ...	OMIM:619472
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating IgG level, Weight loss, Increased circulating antibody level	ORPHA:91500
Yellow Fever	Increased circulating interleukin 6 concentration, Increased circulating IgM level	ORPHA:99829
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Failure to thrive, Right unicoronal synostosis, Camptodactyly, Flexion contracture, Decreased cir...	ORPHA:261537
Mowat-Wilson Syndrome	Decreased body weight, Camptodactyly, Flexion contracture, Decreased circulating antibody level, ...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Failure to thrive, Right unicoronal synostosis, Camptodactyly, Flexion contracture, Decreased cir...	ORPHA:261552
Carney Complex	Increased body weight, Tall stature, Abdominal obesity	ORPHA:1359
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Decreased skull ossification	OMIM:300863
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type		ORPHA:163966

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 Hdac6

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 Hdac6.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Hdac6 regulates Tip60-p400 function in stem cells.	eLife (December 2013)	Hdac6^{tm1a(EUCOMM)Wtsi}	PMC3843111

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
Hdac6^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Hdac6^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Hdac6^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Hdac6^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us