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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 (489 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
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Alzheimer Disease 10	Dementia, Memory impairment	OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant	Cognitive impairment, Dementia	OMIM:618564
Schizophrenia 19	Cognitive impairment	OMIM:617629
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 lev...	OMIM:300310
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:613494
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
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, Tall stature, Obesity	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
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Failure to thrive	OMIM:615198
Caspase 8 Deficiency	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:607271
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini...	OMIM:613493
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Decreased circulating antibody level, Agammaglobulinemia	OMIM:616911
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Buschke-Ollendorff Syndrome	Flexion contracture, Osteopoikilosis, Joint stiffness	OMIM:166700
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619707
Immunodeficiency 24	Decreased circulating IgG2 level, Partial absence of specific antibody response to tetanus vaccin...	OMIM:615897
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:613502
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Severe Combined Immunodeficiency, X-Linked	Decreased circulating total IgM, Decreased circulating IgA level, Reduced natural killer cell act...	OMIM:300400
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, Decreased circulating IgA level, Decreased circulating Ig...	OMIM:606843
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
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
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating IgE level, Decreased circulating total IgM, Decreased circulating IgG level...	OMIM:618944
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgA level, Agammaglobulinemia	OMIM:613500
Immunodeficiency 62	Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,...	OMIM:618459
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Sclerosteosis	Craniofacial hyperostosis, Tall stature, Abnormal cortical bone morphology, Increased bone minera...	ORPHA:3152
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig...	OMIM:605258
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Failure to thrive, Ecto...	ORPHA:2485
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	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:612692
Van Buchem Disease	Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis	OMIM:239100
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating total IgM, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM	OMIM:300636
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Reduced bone mineral density, Decreased circulating total IgM, Joint stiffness, 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	Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones, Joint stiff...	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
Immunodeficiency 70	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo...	ORPHA:2790
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
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Flynn-Aird Syndrome	Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Osteopetrosis, Autosomal Dominant 2	Generalized osteosclerosis, Bone marrow hypocellularity, Osteopetrosis, Recurrent fractures, Mand...	OMIM:166600
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Thickened cortex of bones, Joint stiffness, Arthritis	ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Craniosynostosis, Increased bone mineral density	ORPHA:178377
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia	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
Summitt Syndrome	Craniosynostosis, Obesity	OMIM:272350
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Joint stiffness, Obesity	ORPHA:1078
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619281
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Immunodeficiency 15B	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ...	OMIM:615592
Mueller-Weiss Syndrome	Knee osteoarthritis, Sclerosis of foot bone, Joint stiffness, Arthritis, Limitation of movement a...	ORPHA:566943
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Oligoarthritis, Failure to thrive in infancy, Decreased circulat...	OMIM:619510
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures	OMIM:166740
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones	OMIM:607634
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Decreased circulating total IgM	OMIM:617638
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ...	OMIM:614069
Schnitzler Syndrome	Increased bone mineral density, Arthritis, Increased circulating IgM level	ORPHA:37748
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
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, Decreased circulating IgA level...	OMIM:607594
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Bone marrow hypocellularity, Hyperostosis cranialis interna, Myel...	OMIM:231095
Immunodeficiency 11	Reduced antigen-specific T cell proliferation, Decreased circulating antibody level, Agammaglobul...	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
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:618394
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level...	OMIM:619752
Immunodeficiency 102	Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Partial absen...	OMIM:301082
Rosaï-Dorfman Disease	Osteolysis, Dysgammaglobulinemia	ORPHA:158014
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Immunodeficiency 96	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619774
Craniodiaphyseal Dysplasia, Autosomal Dominant	Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis	OMIM:122860
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating IgA level, Arthritis, Decreased circulatin...	OMIM:616100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Agammaglobulinemia 3, Autosomal Recessive	Absent isohemagglutinin level, Failure to thrive, Agammaglobulinemia	OMIM:613501
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia	OMIM:619705
Immunodeficiency 48	Panhypogammaglobulinemia, Failure to thrive	OMIM:269840
Immunoneurologic Disorder, X-Linked	Small for gestational age, Decreased circulating IgG2 level	OMIM:300076
Mu-Heavy Chain Disease	Osteoporosis, Osteolysis, Increased circulating antibody level, Weight loss	ORPHA:100024
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture	OMIM:620366
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level	OMIM:619773
Intermediate Osteopetrosis	Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormality of bone mineral ...	ORPHA:210110
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Caffey Disease	Calvarial hyperostosis, Increased circulating antibody level, Cortical thickening of long bone di...	ORPHA:1310
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Agammaglobulinemia 7, Autosomal Recessive	Panhypogammaglobulinemia, Agammaglobulinemia	OMIM:615214
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Decreased circulating IgA level, Generalized bone demineralization	OMIM:215250
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Increased circulating IgE level, Failure to thrive in infancy, Increas...	OMIM:617241
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgA level, Failure to thrive, Decreased ci...	OMIM:615758
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Failure to thrive	OMIM:615767
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating total IgM, Decreased circulating IgA level, Failure to thrive, Reduced anti...	ORPHA:331206
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Immunodeficiency 25	Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve...	OMIM:610163
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618261
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Arthritis, Failure...	OMIM:601457
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal trabecular bone morpho...	OMIM:612301
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
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	Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG level...	OMIM:618534
Paget Disease Of Bone 3	Patchy osteosclerosis, Osteolysis, Fractures of the long bones	OMIM:167250
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:275350
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM	OMIM:243700
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Obesity	ORPHA:2206
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level	OMIM:193670
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Decreased circulating IgA level, Failure to thrive	OMIM:617744
Immunodeficiency 46	Decreased circulating antibody level, Failure to thrive	OMIM:616740
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Flexion contracture, Transient hypogammaglobulinemia of infancy	OMIM:251240
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Non Rare In Europe: Buschke-Ollendorff Syndrome	Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Hyperostosis, Arthritis, Recurrent...	ORPHA:1306
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age	OMIM:256450
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Obesity	ORPHA:88643
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	ORPHA:90362
Immunodeficiency With Hyper-Igm, Type 1	Impaired Ig class switch recombination, Increased circulating IgA level, Decreased circulating Ig...	OMIM:308230
Osteopetrosis, Autosomal Recessive 1	Craniosynostosis, Increased bone mineral density, Pathologic fracture, Calvarial osteosclerosis, ...	OMIM:259700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Large for gestational age, Obesity	OMIM:240900
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased l...	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
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Reduced bone mineral density, Osteoporosis, Limitation of knee mo...	OMIM:614856
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma...	ORPHA:90650
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	OMIM:614700
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Small for gestational age, Decreased circulating IgA level, Fail...	OMIM:607143
Majeed Syndrome	Increased bone mineral density, Cachexia, Failure to thrive, Osteomyelitis, Increased susceptibil...	ORPHA:77297
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age	OMIM:601820
Camurati-Engelmann Disease	Diaphyseal sclerosis, Increased bone mineral density, Slender build, Cortical thickening of long ...	OMIM:131300
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Decreased body weight, Osteopetrosis	OMIM:617306
Maternal Uniparental Disomy Of Chromosome 1	Panhypogammaglobulinemia, Epiphyseal stippling, Failure to thrive	ORPHA:251009
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Joint hypermobility, Overweight	OMIM:620065
Immunodeficiency 52	Decreased circulating antibody level, Failure to thrive	OMIM:617514
Immunodeficiency 97 With Autoinflammation	Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ...	OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating total IgM, Failure to thrive in infancy, Partial IgA deficiency, Decreased ...	ORPHA:35078
Immunodeficiency 43	Abnormal circulating IgM level, Decreased circulating IgG level, Abnormal circulating IgA level, ...	OMIM:241600
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Failure to thrive	OMIM:615085
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Knee flexion contracture, Elbow contracture, Delayed pubic bone ...	OMIM:618162
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Decreased circulating IgA level, Impaired T cell function, Parti...	OMIM:240500
Gaucher Disease Type 1	Increased bone mineral density, Osteolysis, Increased circulating antibody level, Pathologic frac...	ORPHA:77259
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level	OMIM:616873
Reticular Dysgenesis	Decreased circulating antibody level, Weight loss, Failure to thrive	ORPHA:33355
Spondyloepiphyseal Dysplasia Tarda	Increased bone mineral density, Knee osteoarthritis, Stiff knee, Abnormal epiphyseal ossification...	ORPHA:93284
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Decreased circulating antibody level, Agammaglobulinemia	OMIM:616910
Immunodeficiency 47	Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG...	OMIM:300972
Immunodeficiency 12	Absent isohemagglutinin level, Osteoporosis, Decreased lymphocyte proliferation in response to an...	OMIM:615468
Agammaglobulinemia, X-Linked	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgE, Sept...	OMIM:300755
Albers-Schönberg Osteopetrosis	Generalized osteosclerosis, Osteoarthritis, Arthritis, Osteomyelitis, Recurrent fractures, Mandib...	ORPHA:53
Diastrophic Dysplasia	Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Joint hyperflexibility	ORPHA:628
Immunodeficiency 27A	Increased circulating IgG level, Salmonella osteomyelitis, Weight loss, Increased circulating IgM...	OMIM:209950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating total IgM, Decreased circulating IgG2 level, Increased circulating IgE leve...	OMIM:102700
Dysosteosclerosis	Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Increased bone mineral density, ...	ORPHA:1782
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618108
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level	OMIM:617006
Metaphyseal Dysplasia, Braun-Tinschert Type	Increased bone mineral density, Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of pr...	ORPHA:85188
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased circulating antibody level, Absent specific antibody response	OMIM:619846
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Flexion contracture of toe, Increased circulating IgE level, Osteoporosi...	ORPHA:3409
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level	OMIM:618982
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification	ORPHA:163649
Immunodeficiency, Common Variable, 6	Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r...	OMIM:613496
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Non Rare In Europe: Central Precocious Puberty	Obesity, Overgrowth, Increased body weight	ORPHA:759
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,...	OMIM:618048
Paget Disease Of Bone 5, Juvenile-Onset	Increased bone mineral density, Osteoporosis, Ankylosis, Osteopenia, Failure to thrive, Recurrent...	OMIM:239000
Osteopetrosis, Autosomal Recessive 2	Diaphyseal sclerosis, Osteopetrosis, Osteomyelitis, Recurrent fractures, Cranial hyperostosis, Ma...	OMIM:259710
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA 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
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Craniosynostosis, Decreased circulating total IgM, Decreased circulating IgA level, Osteopenia, J...	ORPHA:369837
Macrocephaly/Autism Syndrome	Overgrowth, Joint laxity, Decreased circulating antibody level, Large for gestational age, Obesity	OMIM:605309
Mogs-Cdg	Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ...	ORPHA:79330
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Reduced natural killer cell activity, Abnormal circulating IgG l...	OMIM:300291
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Agammaglobulinemia	OMIM:619693
Immunodeficiency 89 And Autoimmunity	Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin...	OMIM:619632
Lymphoproliferative Syndrome, X-Linked, 1	Reduced natural killer cell activity, Increased circulating IgM level, Decreased circulating IgG ...	OMIM:308240
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis, Abdominal obesity, Increased body weight	OMIM:615954
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit...	OMIM:601859
Ataxia-Pancytopenia Syndrome	Decreased circulating antibody level, Abnormal platelet function	ORPHA:2585
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Poems Syndrome	Sclerosis of foot bone, Sclerosis of hand bone, Increased circulating antibody level, Sclerosis o...	ORPHA:2905
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level	OMIM:301045
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Craniosynostosis, Decreased circulating total IgM, Increased circulating IgE level, Decreased cir...	ORPHA:508533
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Thin bony cortex, Increased bone mineral density, Osteopenia	ORPHA:85184
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Arthritis, Decreased circulatin...	ORPHA:420741
Summitt Syndrome	Craniosynostosis, Tall stature, Camptodactyly of finger, Obesity	ORPHA:3210
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal natural killer cell physiology, Decreased circulating antibody level	OMIM:613101
Multiple Myeloma	Increased circulating IgA level, Pathologic fracture, Osteopenia, Increased circulating IgG level...	ORPHA:29073
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Pathologic fracture, Osteomyelitis leading to amputation due to slow healing fractures, Osteopeni...	OMIM:112250
Pycnodysostosis	Generalized osteosclerosis, Coronal craniosynostosis, Increased bone mineral density, Overweight,...	ORPHA:763
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating total IgM, Decreased circulating IgA level, Arthritis, Decreased circulatin...	ORPHA:183675
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Juvenile rheumatoid arthritis, Decreased circulating IgG level, Decreased circulating IgA level, ...	ORPHA:275
Selective Igm Deficiency	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	ORPHA:331235
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea...	ORPHA:169160
Cernunnos-Xlf Deficiency	Decreased circulating antibody level	ORPHA:169079
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis, Obesity	OMIM:610628
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, Decreased circulating IgA level...	OMIM:210900
Roifman Syndrome	Delayed proximal femoral epiphyseal ossification, Decreased circulating antibody level, Hip contr...	ORPHA:353298
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Decreased circulating total IgM, Decreased specific anti-polysac...	ORPHA:3261
Bloom Syndrome	Small for gestational age, Decreased circulating total IgM, Decreased circulating IgA level, Decr...	ORPHA:125
Osteopathia Striata-Cranial Sclerosis Syndrome	Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ...	ORPHA:2780
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:618116
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD69 upregulation upon TCR activation, Decreased specific anti-polysaccharide antibody ...	OMIM:300853
Alpha-Heavy Chain Disease	Dysgammaglobulinemia	ORPHA:100025
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Epiphyseal stippling, Increased body weight	OMIM:274300
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
Xq28 (MECP2) duplication	Decreased circulating IgA level, Failure to thrive	DECIPHER:45
X-Linked Lymphoproliferative Disease	Increased circulating IgA level, Decreased circulating total IgM, Bone marrow hypocellularity, De...	ORPHA:2442
Ataxia-Telangiectasia	Decreased circulating antibody level, Failure to thrive	ORPHA:100
Immunodeficiency 92	Partial absence of specific antibody response to tetanus vaccine, Abnormal B cell proliferation, ...	OMIM:619652
Ring Chromosome 21 Syndrome	Decreased circulating antibody level, Fused thoracic vertebrae	ORPHA:1445
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteoporosis, Osteopenia, Increased body weight	OMIM:615830
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level	OMIM:300635
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Dysosteosclerosis	Sclerosis of hand bone, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased susceptib...	OMIM:224300
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Failure to thrive	OMIM:618495
Autosomal Agammaglobulinemia	Failure to thrive, Osteomyelitis, Arthritis, Agammaglobulinemia	ORPHA:33110
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures, Increased circ...	ORPHA:77261
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgM, Decreased circulating total IgA, Osteomalacia, Decreased circula...	OMIM:619381
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Increased circulating antibody level, Increased circulating IgE ...	ORPHA:169154
Autosomal Recessive Hypophosphatemic Rickets	Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Enthesitis, Hypopho...	ORPHA:289176
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Panhypogammaglobulinemia, Failure to thrive, Agammaglobulin...	OMIM:601495
Secondary Intestinal Lymphangiectasia	Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating tota...	ORPHA:90363
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Decreased circulating antibody level	OMIM:617780
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Abnormality of B cell physiology, Cutaneous anergy, Decreased lymphocyte proliferation in respons...	OMIM:600802
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level	OMIM:616576
Desmosterolosis	Increased bone mineral density, Osteopetrosis, Failure to thrive	ORPHA:35107
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level	ORPHA:1116
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Failure to thrive, Increased circulating IgM level	OMIM:242860
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Generalized joint laxity, Increased body weight	ORPHA:589905
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Craniosynostosis, Decreased circulating total IgM, Decreased circulating IgG level, Decreased cir...	OMIM:620005
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Limitation of movement at ankles, Limited hip movement, Limited ...	ORPHA:206594
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE...	ORPHA:449400
Bare Lymphocyte Syndrome, Type Ii	Cutaneous anergy, Panhypogammaglobulinemia, Failure to thrive, Agammaglobulinemia	OMIM:209920
Dysostosis, Stanescu Type	Increased bone mineral density, Massively thickened long bone cortices	ORPHA:1798
X-Linked Agammaglobulinemia	Arthritis, Failure to thrive, Osteomyelitis, Agammaglobulinemia, Weight loss	ORPHA:47
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Decreased circulating IgA level, Failure to thrive, Increased circ...	ORPHA:276
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased body weight	OMIM:614450
Trichothiodystrophy	Craniosynostosis, Increased bone mineral density, Osteopenia, Panhypogammaglobulinemia, Multiple ...	ORPHA:33364
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Increased circulating IgE level, Joint hypermobility, Decreased circulating IgA level, Osteomyelitis	OMIM:618282
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoporosis, Osteoarthritis, Obesity	ORPHA:77296
Senior-Loken Syndrome 9	Osteopenia, Obesity	OMIM:616629
12Q14 Microdeletion Syndrome	Osteopoikilosis, Failure to thrive	ORPHA:94063
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Failure to thrive, Panhypogammaglobulinemia, Decreased lymphocyt...	ORPHA:572
Pseudohypoparathyroidism Type 1A	Hyperostosis frontalis interna, Increased bone mineral density, Reduced bone mineral density, Abn...	ORPHA:79443
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification	OMIM:618476
Angiostrongyliasis	Increased circulating IgA level, Stiff neck, Increased circulating specific IgE antibody, Increas...	ORPHA:74
Gaucher Disease	Increased bone mineral density, Osteolysis, Joint stiffness, Increased circulating antibody level...	ORPHA:355
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Small for gestational age, Thickened cortex of long bones	OMIM:127000
Pseudohypoparathyroidism Type 1B	Diaphyseal sclerosis, Increased bone density with cystic changes, Increased bone mineral density	ORPHA:94089
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Monoclonal immunoglobulin M...	ORPHA:91139
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Camptodactyly of finger, Synostosis of carpal bones, Failure to t...	ORPHA:90652
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level	OMIM:616005
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count	OMIM:259720
Wiskott-Aldrich Syndrome	Increased circulating IgA level, Decreased circulating total IgM, Decreased specific anti-polysac...	OMIM:301000
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Immunodeficiency 56	Panhypogammaglobulinemia, Failure to thrive	OMIM:615207
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit...	OMIM:603909
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
Lymphoproliferative Syndrome 2	Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen	OMIM:615122
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level, Decreased circulating IgA level, Recurrent fractures	OMIM:606056
Schwartz-Jampel Syndrome	Increased bone mineral density, Arthrogryposis multiplex congenita, Joint stiffness, Flexion cont...	ORPHA:800
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Osteopetrosis, Autosomal Recessive 3	Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis	OMIM:259730
Thymoma	Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Rheumatoid arthritis, Decrease...	ORPHA:99867
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Failure to thrive in infancy, Increased circulating IgM level	OMIM:617099
Schimke Immunoosseous Dysplasia	Decreased circulating antibody level, Abnormal immunoglobulin level, Small for gestational age, O...	OMIM:242900
Perrault Syndrome 4	Osteoporosis, Disproportionate tall stature, Obesity	OMIM:615300
Alg12-Cdg	Camptodactyly, Partial absence of specific antibody response to Haemophilus influenzae type b (Hi...	ORPHA:79324
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Obesity, Reduced bone mineral density, Osteoporosis, Recurrent fractures	ORPHA:2235
Erdheim-Chester Disease	Increased bone mineral density, Osteolysis, Osteomyelitis, Weight loss	ORPHA:35687
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Facial hypero...	ORPHA:2658
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight	ORPHA:276608
Immunodeficiency 23	Increased circulating IgE level, Failure to thrive, Increased circulating IgG level, Increased ci...	OMIM:615816
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Ectopic ossification, Obesity	ORPHA:79444
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Large for gestational age	OMIM:616638
Mgat2-Cdg	Osteopenia, Failure to thrive, Impaired platelet aggregation, Decreased circulating IgG level, De...	ORPHA:79329
Zika Virus Disease	Arthritis, Increased circulating IgM level	ORPHA:448237
X-Linked Hypophosphatemia	Rickets, Generalized osteosclerosis, Reduced bone mineral density, Craniosynostosis, Enthesitis, ...	ORPHA:89936
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Decreased circulating total IgM, Contracture of the distal interphalang...	ORPHA:83617
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Agammaglobulinemia	ORPHA:935
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Failure to thrive	OMIM:256500
Hereditary Folate Malabsorption	Decreased circulating antibody level, Failure to thrive	ORPHA:90045
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Desmosterolosis	Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand, Fa...	OMIM:602398
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Myelofibrosis	OMIM:301078
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Decreased circulating antibody level	OMIM:619750
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Increased circulating IgG level, Failure to thrive	OMIM:617388
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Lipodystrophy, Congenital Generalized, Type 4	Osteoporosis, Decreased circulating IgA level, Osteopenia, Failure to thrive, Flexion contracture	OMIM:613327
Celiac Disease, Susceptibility To, 1	Rickets, Osteoporosis, Decreased circulating IgA level, Failure to thrive, Weight loss	OMIM:212750
Raine Syndrome	Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita	OMIM:259775
Vici Syndrome	Decreased circulating IgG level, Joint stiffness, Decreased circulating IgG2 level	ORPHA:1493
Thymic Tumor	Dysgammaglobulinemia	ORPHA:100100
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Failure t...	OMIM:606367
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Large for gestational age	ORPHA:457485
Lymphoproliferative Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level	OMIM:613011
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent...	ORPHA:542323
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat...	ORPHA:540
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Griscelli Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level	ORPHA:381
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level	OMIM:618165
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hypophosphatemic rickets, Increased body weight	ORPHA:263455
Wilson Disease	Pathologic fracture, Arthritis, Failure to thrive, Increased body weight, Weight loss	ORPHA:905
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgA level, Increased circulating IgG level, Joint stiffness, Failure to thrive	OMIM:615934
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Osteopetrosis	ORPHA:3240
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia, Failure to thrive	OMIM:602450
Congenital Analbuminemia	Small for gestational age, Increased circulating antibody level, Obesity	ORPHA:86816
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Delayed ossification of carpal bones, Decreased circulating antibody level	OMIM:617425
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG level, Joint hyperm...	OMIM:617062
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Pathologic fracture	OMIM:259900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Dec...	OMIM:618986
Atypical Werner Syndrome	Increased bone mineral density, Reduced bone mineral density, Sclerosis of hand bone, Progressive...	ORPHA:79474
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Failure to thrive	OMIM:614576
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Immunodeficiency 58	Decreased circulating antibody level, Failure to thrive, Decreased specific antibody response to ...	OMIM:618131
Aromatase Deficiency	Eunuchoid habitus, Osteoporosis, Osteopenia, Delayed epiphyseal ossification, Tall stature, Obesity	ORPHA:91
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Limited elbow extension, Camptodactyly, Failure to thrive in infancy, Decreased circulating IgA l...	OMIM:613385
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgA level, Osteopenia, Failure to thrive, Decreased circulating IgG level, ...	OMIM:212065
Primary Biliary Cholangitis	Increased circulating IgA level, Osteoporosis, Increased circulating IgM level	ORPHA:186
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Say-Barber-Miller Syndrome	Craniosynostosis, Knee flexion contracture, Impaired neutrophil chemotaxis, Decreased circulating...	ORPHA:3132
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Large for gestational age	OMIM:616026
Sclerosteosis 1	Facial palsy secondary to cranial hyperostosis, Overgrowth, Sclerotic scapulae, Cortically dense ...	OMIM:269500
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
Icf Syndrome	Decreased circulating antibody level	ORPHA:2268
Smith-Magenis Syndrome	Increased body weight	OMIM:182290
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Primary Hyperoxaluria	Generalized osteosclerosis, Failure to thrive, Recurrent fractures	ORPHA:416
Insulin-Resistance Syndrome Type B	Increased circulating IgA level, Osteoarthritis, Increased circulating IgG level, Abnormality of ...	ORPHA:2298
Cleidocranial Dysplasia 1	Increased bone mineral density, Increased susceptibility to fractures, Delayed pubic bone ossific...	OMIM:119600
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Decreased circulating antibody level	OMIM:615952
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgE level, Failure to thrive, Increased circulating IgG level, Defective T ...	OMIM:618213
Autoimmune Hepatitis	Increased circulating IgG level, Arthritis, Increased circulating antibody level	ORPHA:2137
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Osteoporosis, Abdominal obesity, Increased susceptibility to fractures, Increased body weight	ORPHA:189427
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Distal Deletion 19P	Decreased circulating antibody level, Joint hyperflexibility	ORPHA:96129
Mucopolysaccharidosis-Plus Syndrome	Flexion contracture, Bone marrow hypocellularity, Increased circulating IgM level	OMIM:617303
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Decreased circulating antibody level, Agammaglobulinemia	OMIM:243150
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level	OMIM:226300
Cartilage-Hair Hypoplasia	Limited elbow extension, Failure to thrive, Joint hyperflexibility, Abnormally ossified vertebrae...	ORPHA:175
Immunodeficiency 59 And Hypoglycemia	Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp...	OMIM:233600
Pgm3-Cdg	Increased circulating IgA level, Increased circulating IgE level, Bone marrow hypocellularity, Fa...	ORPHA:443811
Magel2-Related Prader-Willi-Like Syndrome	Osteoporosis, Osteopenia, Failure to thrive, Increased body weight, Flexion contracture, Abdomina...	ORPHA:398069
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Failure to thrive in infancy, Abnormal circulating interferon-gamma concentration, Panhypogammagl...	ORPHA:79124
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Decreased circulating antibody level, Failure to thrive	ORPHA:79396
Ataxia-Telangiectasia	Decreased circulating IgG2 level, Decreased circulating IgA level, Defective B cell differentiati...	OMIM:208900
Trichothiodystrophy 1, Photosensitive	Flexion contracture, Small for gestational age, Decreased circulating IgG level	OMIM:601675
Obsolete: Primary Pigmented Nodular Adrenocortical Disease	Osteoporosis, Abdominal obesity, Increased susceptibility to fractures, Increased body weight	ORPHA:189439
Monosomy 18Q	Joint hypermobility, Decreased circulating IgA level, Slender build, Failure to thrive	ORPHA:1600
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Limited elbow extension, Laryngotracheomalacia, Delayed ossification of carpal bones, Osteopenia,...	OMIM:271510
Sotos Syndrome	Overgrowth, Joint laxity, Tall stature, Increased body weight	OMIM:117550
Autoimmune Polyendocrinopathy Type 4	Decreased circulating antibody level, Osteopenia, Rheumatoid arthritis	ORPHA:227990
Lysinuric Protein Intolerance	Increased circulating antibody level, Pathologic fracture, Abnormality of humoral immunity, Osteo...	ORPHA:470
Autoimmune Polyendocrinopathy Type 3	Decreased circulating antibody level, Osteopenia, Rheumatoid arthritis	ORPHA:227982
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Osteoporosis, Failure to thrive, Increased body weight	ORPHA:264580
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Williams Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Failure to thrive in infancy, Syno...	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
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE...	ORPHA:449432
Mannosidosis, Alpha B, Lysosomal	Decreased circulating antibody level	OMIM:248500
Japanese Encephalitis	Stiff neck, Elbow flexion contracture, Increased circulating antibody level, Increased circulatin...	ORPHA:79139
Brucellosis	Knee osteoarthritis, Small for gestational age, Arthritis, Increased circulating IgM level, Incre...	ORPHA:1304
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Osteopetrosis, Failure to thrive, Recurrent fractures	ORPHA:2785
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Septic arthritis, Panhypogammaglobulinemia	OMIM:307200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Joint stiffness, Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulat...	ORPHA:505248
Cowden Syndrome 1	Decreased circulating antibody level	OMIM:158350
Common Variable Immunodeficiency	Failure to thrive in infancy, Decreased circulating antibody level	ORPHA:1572
Good Syndrome	Decreased circulating antibody level	ORPHA:169105
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Decreased circulating antibody level	OMIM:616084
Tick-Borne Encephalitis	Increased circulating IgG level, Abnormality of serum cytokine level, Stiff neck, Increased circu...	ORPHA:297
Autosomal Recessive Malignant Osteopetrosis	Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Recurrent fractures	ORPHA:667
Coccidioidomycosis	Osteolysis, Arthritis, Increased circulating IgM level, Increased circulating IgG level, Osteomye...	ORPHA:228123
Vici Syndrome	Decreased circulating IgG2 level, Cutaneous anergy, Failure to thrive, Decreased circulating IgG ...	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
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating antibody level, Failure to thrive	ORPHA:293978
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Primary Sclerosing Cholangitis	Osteoporosis, Polyclonal elevation of IgM, Osteopenia, Weight loss	ORPHA:171
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Thickened cortex of long bones, Sclerosis of skull base, Failure...	OMIM:269150
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgA level, Increased circulating IgG4 level, Weight loss, Increased circula...	ORPHA:79078
Faciocardiomelic Syndrome	Thin bony cortex, Large for gestational age, Osteopenia	OMIM:612731
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interferon-gamma concentration, Increased circulating IgA level, Camptodact...	OMIM:256040
Hennekam Syndrome	Craniosynostosis, Decreased circulating antibody level, Camptodactyly of finger	ORPHA:2136
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level, Arthritis	OMIM:615688
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Adrenocortical Carcinoma	Weight loss, Increased body weight	ORPHA:1501
Sponastrime Dysplasia	Limited elbow extension, Small for gestational age, Generalized joint laxity, Delayed epiphyseal ...	ORPHA:93357
Primary Sjögren Syndrome	Cryoglobulinemia, Increased circulating antibody level, Arthritis, Decreased circulating compleme...	ORPHA:289390
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:223370
Leukocyte Adhesion Deficiency Type Ii	Abnormal isohemagglutinin level, Small for gestational age, Failure to thrive	ORPHA:99843
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Failure to thrive in infancy, Decreased circulating antibody level	ORPHA:247598
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Carpal synostosis, Decreased circulating antibody level	OMIM:274000
Syndromic Diarrhea	Small for gestational age, Panhypogammaglobulinemia	ORPHA:84064
Whim Syndrome	Decreased circulating antibody level	ORPHA:51636
Igg4-Related Kidney Disease	Increased circulating IgG4 level, Increased circulating IgG1 level, Increased circulating IgE lev...	ORPHA:449395
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive	OMIM:618278
Cushing Disease	Osteoporosis, Increased body weight, Abdominal obesity, Truncal obesity	ORPHA:96253
Nijmegen Breakage Syndrome	Dysgammaglobulinemia	OMIM:251260
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Stiff neck, Increased circulating IgM level	ORPHA:99827
Hellp Syndrome	Increased body weight	ORPHA:244242
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Secretory IgA deficiency, Hyperextensible hand joints, Hyperextensibility at elbow, Failure to th...	ORPHA:500150
Viss Syndrome	Generalized joint laxity, Increased circulating IgE level, Decreased circulating IgA level, Failu...	OMIM:619472
Yellow Fever	Increased circulating interleukin 6 concentration, Increased circulating IgM level	ORPHA:99829
Cushing Syndrome Due To Ectopic Acth Secretion	Osteoporosis, Truncal obesity, Increased body weight, Abdominal obesity, Weight loss	ORPHA:99889
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating IgG level, Increased circulating antibody level, Weight loss	ORPHA:91500
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Camptodactyly, Right unicoronal synostosis, Failure to thrive, Flexion contracture, Decreased cir...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Camptodactyly, Right unicoronal synostosis, Failure to thrive, Flexion contracture, Decreased cir...	ORPHA:261552
Mowat-Wilson Syndrome	Camptodactyly, Recurrent fractures, Flexion contracture, Decreased circulating antibody level, De...	ORPHA:2152
Carney Complex	Tall stature, Abdominal obesity, Increased body weight	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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