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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
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) Hdac6tm1a(EUCOMM)Wtsi PMC3843111

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hdac6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hdac6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hdac6tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Hdac6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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