Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
histone deacetylase 9
Synonyms:
HDRP,  Mitr,  D030072B18Rik,  Hdac7b

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 Hdac9 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 Hdac9 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auriculocondylar Syndrome 4
OMIM:620457

The table below shows human diseases predicted to be associated to Hdac9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy OMIM:115210
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613876
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Left ventricular hypertrophy OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613874
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Left ventricular hypertrophy, Dilate... OMIM:615248
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the... ORPHA:206546
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613251
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Hypertrophic cardiomyopathy, Left atrial enlarg... OMIM:608751
Cardiomyopathy, Dilated, 1V
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613697
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Left ventricular hypertrophy, Right ventricular dilatation OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myocardial fibrosis OMIM:613873
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... OMIM:619040
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Left ventricular hypertrophy OMIM:613838
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Left ventricular hypertrophy OMIM:619048
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy OMIM:540000
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy OMIM:618228
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Ventricular septal hypertrophy, Left ... OMIM:608758
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular hypertrophy, Macroglossia, Flexion contracture, Facial palsy... OMIM:613156
Cardiomyopathy, Dilated, 1D
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:601494
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ... ORPHA:169186
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture OMIM:616733
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Isolated Succinate-Coq Reductase Deficiency
Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Knee flexion contracture... ORPHA:3208
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy OMIM:102200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Tangier Disease
Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Hepatomegaly OMIM:205400
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri... OMIM:612098
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Left ventricular hypertrophy, Atrial sept... OMIM:615355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Endocardial fibroelastosis, Left ventricular h... ORPHA:3093
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly OMIM:617713
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Left ventricular hy... OMIM:619167
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal... OMIM:615474
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Cardiac Diverticulum
Aortic valve stenosis, Congenital defect of the pericardium, Abnormal heart morphology, Tetralogy... ORPHA:1686
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy ORPHA:251274
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac atrium morphology, Left atrial enlargement, Left ventric... ORPHA:563
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly OMIM:614096
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Facial hypotonia, Cardiomegaly, Left ventricular hypertrophy, Hepato... ORPHA:308552
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp OMIM:619698
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Left ventricular hypertrophy, Atrial sept... ORPHA:230851
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy ORPHA:320
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Lower limb muscle weakness, Rhabdomyolysis, Skeletal myopathy, Left ventricular h... ORPHA:746
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, L... OMIM:616564
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... OMIM:245600
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Hepatosplenomegaly, Left ventricular hypertrophy, Hepatomegaly, Pericardia... OMIM:619487
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Left ventricular hypertrophy OMIM:611209
Laubry-Pezzi Syndrome
Patent foramen ovale, Aortic valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Le... ORPHA:99094
Fabry Disease
Ventricular septal hypertrophy, Left ventricular hypertrophy OMIM:301500
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy ORPHA:90065
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy OMIM:619355
Chromosome 13Q33-Q34 Deletion Syndrome
Camptodactyly, Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis OMIM:619148
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:618321
Aortic Arch Interruption
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:2299
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Left ventricular hypertrophy, Atrial septal defect OMIM:620510
Mucolipidosis Type Ii
Cardiomyopathy, Hepatosplenomegaly, Diastasis recti, Splenomegaly, Abnormal aortic valve morpholo... ORPHA:576
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Limb muscle ... ORPHA:254892
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Left ventricular hypertrophy OMIM:617168
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Myopathy, Cardiomegaly, ... OMIM:212140
Tangier Disease
Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Coronary artery stenosis ORPHA:31150
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Hypertrophic cardiomyopathy, Facial hypotonia, Cardiomegaly, Left ven... ORPHA:365
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Left ventricular hypertrophy, Left atrial enlargement, Right ventricula... ORPHA:99106
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:256550
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Atrial septal defect OMIM:242840
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Distal arthrogryposis, Hepatomegaly ORPHA:42
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... ORPHA:324410
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy OMIM:209900
Fabry Disease
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Left ventricular hypertrophy, Abno... ORPHA:324
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
Refsum Disease, Classic
Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Cranioectodermal Dysplasia 2
Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly OMIM:613610
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Patent foramen ovale, Ventricular septal defect, Left ventric... ORPHA:466791
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Mandibuloacral Dysplasia Progeroid Syndrome
Patent foramen ovale, Left ventricular hypertrophy, Mitral valve calcification, Hepatomegaly, Fle... OMIM:619127
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Exercise-induced rhabdomyolysis, Hypertrophic cardiomyopathy OMIM:201475
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect OMIM:616897
Distal Deletion 12Q
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent foramen ovale ORPHA:96149
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Fontaine Progeroid Syndrome
Abnormal heart morphology, Bicuspid aortic valve, Left ventricular hypertrophy, Atrial septal def... OMIM:612289
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertrophic cardiomyopathy, Mitral atresia, Bicuspid aortic valve, Left ventricular hypertrophy,... OMIM:220111
Fucosidosis
Hepatomegaly, Cardiomegaly, Decreased muscle mass ORPHA:349
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi... OMIM:617022
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia OMIM:268800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:619259
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Myopathy, C... OMIM:261740
Aneurysm-Osteoarthritis Syndrome
Abnormal heart morphology, Left ventricular hypertrophy, Pulmonic stenosis, Camptodactyly of finger ORPHA:284984
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Splenomegaly, Mitral valv... OMIM:602782
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Splenomegaly, Cardiomegaly, Hepatomegaly ORPHA:465508
Glycogen Storage Disease Ii
Firm muscles, Limb muscle weakness, Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Incre... OMIM:232300
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee flexion c... OMIM:608836
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Mitral valve prolapse, Bicuspid aortic valve, Left ventricular hypertrop... OMIM:613795
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Camptodactyly of toe, Cardiomyopathy ORPHA:158687
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, Cardiomegaly, Hepatomegaly OMIM:614921
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthrogryposis multiplex congenita OMIM:608013
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Limb hypertonia OMIM:620306
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Thenar muscle atrophy, Hypoplasia of the musculature, Small hypothenar eminence ORPHA:2463
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Fucosidosis
Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Generalized amyotrophy OMIM:230000
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen... ORPHA:980
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Diastasis recti, Splenomegaly, Cardiomegaly, Camptodactyly, Hepatome... OMIM:252500
Mucopolysaccharidosis Type 3
Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Cardiomegaly, A... ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Macroglossia, Cardiomegaly, Ventricular septal defect ORPHA:96191
Bohring-Opitz Syndrome
Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Facial hypotonia, Bilat... ORPHA:97297
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Myopathy, Distal lower limb muscle weakness ORPHA:14
Ogden Syndrome
Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Bic... OMIM:300855
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Limb hypertonia, Patent foramen ovale OMIM:620371
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:137675
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contracture, Splenomegaly, Cardio... OMIM:256040
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Myositis ORPHA:51
Beckwith-Wiedemann Syndrome
Visceromegaly, Hypertrophic cardiomyopathy, Diastasis recti, Splenomegaly, Congenital diaphragmat... ORPHA:116
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:620376
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe... OMIM:619991
Williams Syndrome
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defec... ORPHA:904
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial septal defect ORPHA:3472
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Muscle fiber atrophy, Cardiomegaly, Mitral val... OMIM:182250
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Ventricular hypertrophy, Pericardial effusion, Myocardial calcification ORPHA:51608
Auriculocondylar Syndrome 4
OMIM:620457

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 Hdac9

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 Hdac9.

No publications found that use IMPC mice or data for Hdac9.

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.

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