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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 (487 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 IgG4 level, Obesity, Agammaglobulinemia, Arthritis, Decreased circulating t...	OMIM:300310
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity, Tall stature	OMIM:618406
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Failure to thrive, Clavicular sclerosis	OMIM:615198
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy	OMIM:618987
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:619707
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Immunodeficiency 24	Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ...	OMIM:615897
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:613502
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulatin...	OMIM:300400
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	OMIM:617765
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
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
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk...	OMIM:618944
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level	OMIM:613500
Immunodeficiency 62	Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,...	OMIM:618459
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Tal...	ORPHA:3152
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgE level, De...	ORPHA:98813
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:612692
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE...	OMIM:619824
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint stiffness, Reduced bone mineral density, Decreased circulating total IgM, Decreased circula...	OMIM:620210
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	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
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:618969
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Summitt Syndrome	Obesity, Craniosynostosis	OMIM:272350
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity, Joint stiffness	ORPHA:1078
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619281
Immunodeficiency 15B	Agammaglobulinemia, Failure to thrive, Decreased lymphocyte proliferation in response to mitogen,...	OMIM:615592
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Oligoarthritis, Decreased circulating total IgM, Decreased circulat...	OMIM:619510
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Schnitzler Syndrome	Arthritis, Increased bone mineral density, Increased circulating IgM level	ORPHA:37748
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre...	OMIM:607594
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Bone marrow hypocellularity, Hyperostosis craniali...	OMIM:231095
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:618394
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Increased susceptibility to fractures, Decreased circulating tot...	OMIM:619752
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Osteolysis	ORPHA:158014
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating antibody level, Arthritis, Decreased circulating total IgM, Decreased circu...	OMIM:616100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Failure to thrive, Absent isohemagglutinin level	OMIM:613501
Immunodeficiency 48	Failure to thrive, Panhypogammaglobulinemia	OMIM:269840
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:619705
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Small for gestational age	OMIM:300076
Mu-Heavy Chain Disease	Weight loss, Osteoporosis, Osteolysis, Increased circulating antibody level	ORPHA:100024
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Small for gestational age, Decreased circulating IgA level	OMIM:215250
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas...	OMIM:617241
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Immunodeficiency, Common Variable, 11	Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Failure to thrive, Decreased circulating antibody level, Decreased circulating total IgM, Reduced...	ORPHA:331206
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Fail...	OMIM:615758
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	OMIM:610163
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
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Arthritis, Failure to thrive, Panhypogammaglobulinemia, Failure to thrive secondary to recurrent ...	OMIM:601457
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating total IgM, Osteopetrosis, Decreased ci...	OMIM:612301
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Immunodeficiency 109 With Lymphoproliferation	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near...	OMIM:620282
Immunodeficiency 64 With Lymphoproliferation	Failure to thrive, Increased circulating IgA level, Increased circulating IgG level, Increased ci...	OMIM:618534
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Failure to thrive, Decreased circulating IgG level, Decreased ci...	OMIM:275350
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Obesity	ORPHA:2206
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM	OMIM:243700
Immunodeficiency 46	Failure to thrive, Decreased circulating antibody level	OMIM:616740
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Flexion contracture, Transient hypogammaglobulinemia of infancy	OMIM:251240
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Craniosynostosis	ORPHA:88643
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age	OMIM:256450
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul...	OMIM:308230
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu...	OMIM:259700
Primary Intestinal Lymphangiectasia	Weight loss, Decreased circulating antibody level, Decreased circulating total IgM, Decreased cir...	ORPHA:90362
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Joint hypermobility	OMIM:620065
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating ant...	ORPHA:221139
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Lambert Syndrome	Failure to thrive in infancy, Decreased circulating antibody level	ORPHA:1296
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:436159
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Failure to thrive, Decreased circulating IgG level, Decreased ci...	OMIM:620040
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Arthritis, Decreased circulating total IgM, Decreased specific antibody respon...	OMIM:614700
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age	OMIM:601820
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase...	ORPHA:77297
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Small for gestational age, Decreased circulating total IgM, Fail...	OMIM:607143
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis, Decreased body weight	OMIM:617306
Maternal Uniparental Disomy Of Chromosome 1	Epiphyseal stippling, Failure to thrive, Panhypogammaglobulinemia	ORPHA:251009
Immunodeficiency 52	Failure to thrive, Decreased circulating antibody level	OMIM:617514
Activated Pi3K-Delta Syndrome	Arthritis, Failure to thrive, Increased circulating IgM level, Decreased circulating antibody level	ORPHA:397596
Immunodeficiency 97 With Autoinflammation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619802
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Osteopetrosis	OMIM:615085
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Increased circulating ant...	ORPHA:77259
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Knee flexion contracture, Decreased circulating total IgM, Sclerosis of skull ...	OMIM:618162
Reticular Dysgenesis	Failure to thrive, Weight loss, Decreased circulating antibody level	ORPHA:33355
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir...	OMIM:240500
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level	OMIM:616873
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Osteoporosis, Absent isohemagglutinin...	OMIM:615468
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Failure to thrive in infancy, Partial IgA deficiency, Lack of T cell function, Decreased circulat...	ORPHA:35078
Spondyloepiphyseal Dysplasia Tarda	Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os...	ORPHA:93284
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Septic arthritis,...	OMIM:300755
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Immunodeficiency 47	Decreased circulating antibody level, Decreased circulating total IgA, Decreased circulating tota...	OMIM:300972
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Failure to thrive, Decreased ci...	OMIM:618108
Diastrophic Dysplasia	Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea...	ORPHA:1782
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
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
Immunodeficiency 27A	Increased circulating IgG level, Salmonella osteomyelitis, Increased circulating IgM level, Weigh...	OMIM:209950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Failure to thrive, Increased circulating IgE level, Decreased ...	OMIM:102700
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Obes...	ORPHA:3409
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level	OMIM:618982
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification	ORPHA:163649
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Failure...	OMIM:239000
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Failure to thrive, Abnormal circulating IgM level, Increased cir...	OMIM:618048
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
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Obesity, Decreased circulating total IgM, Joint hypermobility, Decr...	ORPHA:369837
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Failure to thrive	OMIM:619693
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,...	OMIM:308240
Macrocephaly/Autism Syndrome	Joint laxity, Large for gestational age, Obesity, Decreased circulating antibody level, Overgrowth	OMIM:605309
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Osteoporosis, Increased body weight	OMIM:615954
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Ataxia-Pancytopenia Syndrome	Abnormal platelet function, Decreased circulating antibody level	ORPHA:2585
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Craniosynostosis, Limited elbow movement, Increased circulating IgE level, Elbow flexion contract...	ORPHA:508533
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level	OMIM:301045
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Weight loss, Sclerosis of skull base, Increased c...	ORPHA:2905
Summitt Syndrome	Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity	ORPHA:3210
Riddle Syndrome	Weight loss, Arthritis, Decreased circulating total IgM, Decreased circulating IgG level, Decreas...	ORPHA:420741
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal natural killer cell physiology, Decreased circulating antibody level	OMIM:613101
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Multiple Myeloma	Osteopenia, Increased circulating IgA level, Decreased circulating antibody level, Weight loss, I...	ORPHA:29073
Pycnodysostosis	Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s...	ORPHA:763
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Failure to thrive, Decreased circulating IgG level, Juvenile rheumatoid arthritis, Decreased circ...	ORPHA:275
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea...	ORPHA:169160
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Arthritis, Decreased circulating total IgM, Rheumatoid arthritis, Decreased circulating IgG level...	ORPHA:183675
Selective Igm Deficiency	Paraproteinemia, Decreased circulating total IgM, Rheumatoid arthritis, Decreased specific antibo...	ORPHA:331235
Bloom Syndrome	Small for gestational age, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:125
Alpha-Heavy Chain Disease	Dysgammaglobulinemia	ORPHA:100025
Cernunnos-Xlf Deficiency	Decreased circulating antibody level	ORPHA:169079
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Obesity Due To Melanocortin 4 Receptor Deficiency	Childhood-onset truncal obesity, Obesity	ORPHA:71529
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Small for gestational age, Decr...	OMIM:210900
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis, Obesity	OMIM:610628
Roifman Syndrome	Hip contracture, Delayed proximal femoral epiphyseal ossification, Decreased T cell activation, D...	ORPHA:353298
Osteopathia Striata-Cranial Sclerosis Syndrome	Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular...	ORPHA:2780
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6...	OMIM:300853
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac...	ORPHA:3261
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:618116
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Epiphyseal stippling, Small for gestational age, Increased body weight	OMIM:274300
Xq28 (MECP2) duplication	Failure to thrive, Decreased circulating IgA level	DECIPHER:45
Pseudopseudohypoparathyroidism	Osteoporosis, Obesity	OMIM:612463
Werner Syndrome	Increased bone mineral density, Osteoporosis, Slender build, Joint stiffness	ORPHA:902
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Immunodeficiency 92	Osteomyelitis, Abnormal B cell proliferation, Partial absence of specific antibody response to te...	OMIM:619652
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Decreased circulating antibody level	ORPHA:1445
Ataxia-Telangiectasia	Failure to thrive, Decreased circulating antibody level	ORPHA:100
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis, Increased body weight	OMIM:615830
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level	OMIM:300635
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc...	OMIM:224300
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Failure to thrive	OMIM:618495
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:169154
Gaucher Disease Type 3	Increased bone mineral density, Increased circulating antibody level, Osteolysis, Increased susce...	ORPHA:77261
Autosomal Agammaglobulinemia	Agammaglobulinemia, Arthritis, Failure to thrive, Osteomyelitis	ORPHA:33110
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Osteomalacia, Weight loss, Decreased circulating total IgA, Arthritis, Decreased c...	OMIM:619381
Agammaglobulinemia 1, Autosomal Recessive	Agammaglobulinemia, Failure to thrive, Panhypogammaglobulinemia, Decreased circulating antibody l...	OMIM:601495
Secondary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulating IgA leve...	ORPHA:90363
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Decreased circulating antibody level	OMIM:617780
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level	OMIM:616576
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level	ORPHA:1116
Desmosterolosis	Increased bone mineral density, Failure to thrive, Osteopetrosis	ORPHA:35107
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Generalized joint laxity, Increased body weight	ORPHA:589905
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Failure to thrive, Decreased circulating IgA level	OMIM:242860
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Craniosynostosis, Decreased cir...	OMIM:620005
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Obesity	ORPHA:77296
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Increased circulating IgG level, Limited elbow flexion, Limited...	ORPHA:206594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Failure to thrive, ...	OMIM:600802
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia	OMIM:209920
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Weight loss, Increased circula...	ORPHA:449400
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density	ORPHA:1798
X-Linked Agammaglobulinemia	Osteomyelitis, Weight loss, Agammaglobulinemia, Arthritis, Failure to thrive	ORPHA:47
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymp...	ORPHA:276
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Panhyp...	ORPHA:33364
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased body weight	OMIM:614450
Senior-Loken Syndrome 9	Osteopenia, Obesity	OMIM:616629
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Osteomyelitis, Joint hypermobility, Decreased circulating IgA level	OMIM:618282
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis frontalis int...	ORPHA:79443
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased circulating antibody level, Abnormality of humoral immunity, D...	ORPHA:572
12Q14 Microdeletion Syndrome	Osteopoikilosis, Failure to thrive	ORPHA:94063
Pseudohypoparathyroidism Type 1B	Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis	ORPHA:94089
Wiskott-Aldrich Syndrome	Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ...	OMIM:301000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis	OMIM:618476
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ...	ORPHA:355
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Small for gestational age, Thickened cortex of long bones	OMIM:127000
Angiostrongyliasis	Stiff neck, Increased circulating IgA level, Increased circulating specific IgE antibody, Increas...	ORPHA:74
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis	OMIM:259720
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal synostosis, Ca...	ORPHA:90652
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Immunodeficiency 56	Failure to thrive, Panhypogammaglobulinemia	OMIM:615207
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia...	ORPHA:91139
Immunodeficiency 36 With Lymphoproliferation	Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:616005
Pseudopseudohypoparathyroidism	Ectopic ossification, Obesity	ORPHA:79445
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:619767
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ...	ORPHA:800
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
Perrault Syndrome 4	Disproportionate tall stature, Osteoporosis, Obesity	OMIM:615300
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Congenital Disorder Of Glycosylation, Type Iib	Recurrent fractures, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis	OMIM:259730
Thymoma	Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Weight loss, Decreased circula...	ORPHA:99867
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Obesity, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss	ORPHA:35687
Schimke Immunoosseous Dysplasia	Osteopenia, Abnormal immunoglobulin level, Small for gestational age, Decreased circulating antib...	OMIM:242900
Pseudohypoparathyroidism Type 1C	Ectopic ossification, Increased bone mineral density, Obesity	ORPHA:79444
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight	ORPHA:276608
Immunodeficiency 23	Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:615816
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Failure to thrive in infancy, Increased circulating IgA level	OMIM:617099
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Smith-Kingsmore Syndrome	Large for gestational age, Decreased circulating IgA level	OMIM:616638
Netherton Syndrome	Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Zika Virus Disease	Arthritis, Increased circulating IgM level	ORPHA:448237
Hereditary Folate Malabsorption	Failure to thrive, Decreased circulating antibody level	ORPHA:90045
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Contracture of the distal interphalangeal joint of the fingers, Fused cervical vertebrae, Decreas...	ORPHA:83617
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Reduced bone mineral density	ORPHA:935
Mgat2-Cdg	Osteopenia, Failure to thrive, Decreased circulating antibody level, Decreased lymphocyte prolife...	ORPHA:79329
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ...	ORPHA:89936
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets, Weight loss, Failure to thrive, Decreased circulating IgA level	OMIM:212750
Desmosterolosis	Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult...	OMIM:602398
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Decreased circulating IgG level, Bone marrow hypocellularity	OMIM:301078
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Failure to thrive, Increased circulating IgA level	OMIM:617388
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Decreased circulating antibody level	OMIM:619750
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Flexion contracture, Osteoporosis, Failure to thrive, Decreased circulating IgA level	OMIM:613327
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Failure to thrive in infancy, Decreased lymphocyte proliferation in response to anti-CD3, Increas...	OMIM:606367
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level, Joint stiffness	ORPHA:1493
Raine Syndrome	Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation	OMIM:259775
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:613011
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Decreased circulating IgA level	ORPHA:457485
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,...	ORPHA:542323
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Decrease...	ORPHA:540
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Increased body weight, Large for gestational age	ORPHA:263455
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Griscelli Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level	ORPHA:381
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level	OMIM:618165
Wilson Disease	Increased body weight, Weight loss, Arthritis, Pathologic fracture, Failure to thrive	ORPHA:905
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Osteopetrosis	ORPHA:3240
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Failure to thrive, Increased circulating IgA level, Joint stiffness	OMIM:615934
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Congenital Analbuminemia	Small for gestational age, Increased circulating antibody level, Obesity	ORPHA:86816
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Delayed ossification of carpal bones, Decreased circulating antibody level	OMIM:617425
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Failure to thrive, Joint h...	OMIM:617062
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi...	ORPHA:79474
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part...	OMIM:618986
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Decreased specific anti-polysaccharide antibody level, Impaired T cell function	OMIM:614576
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Osteoporosis, Obesity, Tall stature	ORPHA:91
Immunodeficiency 58	Decreased specific antibody response to vaccination, Decreased T cell activation, Failure to thri...	OMIM:618131
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Limited elbow extension, Failure to thrive in infancy, Decreased circulating IgA level, Camptodac...	OMIM:613385
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Decreased circulating IgG level, Flexion contracture, Failure to thrive, Decreased ci...	OMIM:212065
Primary Biliary Cholangitis	Increased circulating IgM level, Osteoporosis, Increased circulating IgA level	ORPHA:186
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Large for gestational age	OMIM:616026
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Sclerosteosis 1	Overgrowth, Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, ...	OMIM:269500
Smith-Magenis Syndrome	Increased body weight	OMIM:182290
Say-Barber-Miller Syndrome	Craniosynostosis, Elbow flexion contracture, Transient hypogammaglobulinemia of infancy, Decrease...	ORPHA:3132
Primary Hyperoxaluria	Generalized osteosclerosis, Failure to thrive, Recurrent fractures	ORPHA:416
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
Icf Syndrome	Decreased circulating antibody level	ORPHA:2268
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Autoimmune Hepatitis	Arthritis, Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Decreased circulating antibody level	OMIM:615952
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased circulating complement factor B concentration, Increased ci...	ORPHA:2298
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,...	OMIM:618213
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Mucopolysaccharidosis-Plus Syndrome	Increased circulating IgM level, Flexion contracture, Bone marrow hypocellularity	OMIM:617303
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Agammaglobulinemia, Decreased circulating antibody level	OMIM:243150
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Abdominal obesity, Osteoporosis, Increased body weight, Increased susceptibility to fractures	ORPHA:189427
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Decreased circulating antibody level, Joint hyperflexibility, Abno...	ORPHA:175
Distal Deletion 19P	Joint hyperflexibility, Decreased circulating antibody level	ORPHA:96129
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Pgm3-Cdg	Osteomyelitis, Increased circulating IgA level, Increased circulating IgE level, Increased circul...	ORPHA:443811
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Osteoporosis, Increased body weight, Abdominal obesity, Failure ...	ORPHA:398069
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level	OMIM:226300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati...	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
Ataxia-Telangiectasia	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgG2 level, Defective B...	OMIM:208900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Failure to thrive, Craniosynostosis, Decreased circulating antibody level	ORPHA:79396
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Delayed ossification of carpal bones, Laryngotracheomalacia, Decreased circulating Ig...	OMIM:271510
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Rheumatoid arthritis, Decreased circulating antibody level	ORPHA:227990
Monosomy 18Q	Failure to thrive, Slender build, Joint hypermobility, Decreased circulating IgA level	ORPHA:1600
Sotos Syndrome	Joint laxity, Overgrowth, Increased body weight, Tall stature	OMIM:117550
Lysinuric Protein Intolerance	Osteopenia, Osteoporosis, Decreased circulating antibody level, Abnormality of humoral immunity, ...	ORPHA:470
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Rheumatoid arthritis, Decreased circulating antibody level	ORPHA:227982
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Osteoporosis, Increased body weight	ORPHA:264580
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Failure to thrive in infancy, Joint sti...	ORPHA:904
Insulinoma	Increased body weight	ORPHA:97279
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Osteoporosis, Increased body weight	ORPHA:79240
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Septic arthritis, Panhypogammaglobulinemia	OMIM:307200
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve...	ORPHA:449432
Mannosidosis, Alpha B, Lysosomal	Decreased circulating antibody level	OMIM:248500
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Osteopetrosis, Failure to thrive, Recurrent fractures	ORPHA:2785
Japanese Encephalitis	Increased circulating IgM level, Stiff neck, Elbow flexion contracture, Increased circulating ant...	ORPHA:79139
Brucellosis	Osteomyelitis, Small for gestational age, Knee osteoarthritis, Weight loss, Arthritis, Sacroiliac...	ORPHA:1304
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Joint stiffness, Flexion contracture, Increased circulating IgM level, Bone marrow hypocellularit...	ORPHA:505248
Common Variable Immunodeficiency	Failure to thrive in infancy, Decreased circulating antibody level	ORPHA:1572
Good Syndrome	Decreased circulating antibody level	ORPHA:169105
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
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density	ORPHA:667
Tick-Borne Encephalitis	Increased circulating IgG level, Stiff neck, Abnormality of serum cytokine level, Increased circu...	ORPHA:297
Vici Syndrome	Decreased circulating IgG level, Failure to thrive, Decreased T cell activation, Cutaneous anergy...	OMIM:242840
Coccidioidomycosis	Osteomyelitis, Osteolysis, Arthritis, Increased circulating IgG level, Increased circulating IgM ...	ORPHA:228123
Trichohepatoenteric Syndrome 1	Failure to thrive, Small for gestational age, Decreased circulating antibody level	OMIM:222470
Primary Sclerosing Cholangitis	Osteopenia, Weight loss, Osteoporosis, Polyclonal elevation of IgM	ORPHA:171
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Decreased circulating antibody level	ORPHA:293978
Schinzel-Giedion Midface Retraction Syndrome	Sclerosis of skull base, Failure to thrive, Increased density of long bones, Thickened cortex of ...	OMIM:269150
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 IgM level, Weight loss, Increased circulating IgG4 level, Increased circula...	ORPHA:79078
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex, Large for gestational age	OMIM:612731
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Hennekam Syndrome	Camptodactyly of finger, Craniosynostosis, Decreased circulating antibody level	ORPHA:2136
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Failure to thrive, Increased circulating inter...	OMIM:256040
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Arthritis, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615688
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Primary Sjögren Syndrome	Decreased circulating antibody level, Arthritis, Decreased circulating complement C3 concentratio...	ORPHA:289390
Sponastrime Dysplasia	Joint laxity, Small for gestational age, Delayed epiphyseal ossification, Generalized joint laxit...	ORPHA:93357
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:223370
Leukocyte Adhesion Deficiency Type Ii	Failure to thrive, Small for gestational age, Abnormal isohemagglutinin level	ORPHA:99843
Igg4-Related Kidney Disease	Increased circulating IgG4 level, Increased circulating IgE level, Weight loss, Increased circula...	ORPHA:449395
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Failure to thrive in infancy, Decreased circulating antibody level	ORPHA:247598
Thrombocytopenia-Absent Radius Syndrome	Carpal synostosis, Fused cervical vertebrae, Decreased circulating antibody level	OMIM:274000
Syndromic Diarrhea	Small for gestational age, Panhypogammaglobulinemia	ORPHA:84064
Cushing Disease	Truncal obesity, Abdominal obesity, Osteoporosis, Increased body weight	ORPHA:96253
Whim Syndrome	Decreased circulating antibody level	ORPHA:51636
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Decreased circulating IgG level	OMIM:618278
Nijmegen Breakage Syndrome	Dysgammaglobulinemia	OMIM:251260
Hellp Syndrome	Increased body weight	ORPHA:244242
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Stiff neck, Increased circulating IgM level	ORPHA:99827
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Sagittal craniosynostosis, Hyperextensible hand joints, Secretory I...	ORPHA:500150
Cushing Syndrome Due To Ectopic Acth Secretion	Osteoporosis, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity	ORPHA:99889
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating IgG level, Increased circulating antibody level, Weight loss	ORPHA:91500
Viss Syndrome	Joint laxity, Generalized joint laxity, Increased circulating IgE level, Increased circulating Ig...	OMIM:619472
Yellow Fever	Increased circulating IgM level, Increased circulating interleukin 6 concentration	ORPHA:99829
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Flexion contracture, Decreased circulating antibody level, Camptodactyly, Right unicoronal synost...	ORPHA:261537
Mowat-Wilson Syndrome	Recurrent fractures, Flexion contracture, Decreased circulating antibody level, Decreased body we...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Flexion contracture, Decreased circulating antibody level, Camptodactyly, Right unicoronal synost...	ORPHA:261552
Carney Complex	Abdominal obesity, Increased body weight, Tall stature	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

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