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.

No human diseases associated to this gene by orthology or annotation.

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
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement OMIM:115210
Ethanolaminosis
Cardiomegaly OMIM:227150
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Left atrial enlargement OMIM:612201
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613876
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613874
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... OMIM:612158
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Hypertrophi... OMIM:615248
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Calf muscle hypertrophy, Left ventricular hypertr... ORPHA:206546
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613251
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left atrial enlar... OMIM:608751
Cardiomyopathy, Dilated, 1V
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613697
Atrial Fibrillation, Familial, 10
Left ventricular hypertrophy, Right ventricular dilatation, Left atrial enlargement OMIM:614022
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:617713
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613873
Myofibrillar Myopathy 10
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Elbow ... OMIM:619040
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... ORPHA:86812
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613838
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Hepatomegaly OMIM:619048
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy OMIM:614654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... OMIM:613156
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Restrictive cardiomyopathy, Left vent... ORPHA:85451
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventric... OMIM:608758
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... ORPHA:169186
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture OMIM:616733
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, EMG: myopathic abnormalities, Ragged-red muscle fibers, Hypertrophi... OMIM:615418
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Tangier Disease
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy OMIM:205400
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy OMIM:102200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Familial Dilated Cardiomyopathy
Left ventricular hypertrophy, Right ventricular dilatation ORPHA:217607
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Skeletal myopathy, Distal amyotrophy, Noncompaction cardiomyopathy,... ORPHA:3208
Cardiomyopathy, Familial Hypertrophic, 11
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial septal defect, Subaortic ventri... OMIM:612098
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Left ventricular hypertrophy, Biventricular hypertrophy, Patent forame... OMIM:615474
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular septal defect,... OMIM:615355
Congenital Aortic Valve Stenosis
Aortic valve calcification, Aortic valve stenosis, Aortic valve atresia, Left ventricular hypertr... ORPHA:3093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Mitral valve prolapse, Left ventricular noncompaction OMIM:163800
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy ORPHA:444013
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Camptodactyly OMIM:611209
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:619167
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy ORPHA:251274
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Myocarditis, Dilated cardiomyopathy, Left atrial enlargement, Abnor... ORPHA:563
Cardiac Diverticulum
Tricuspid atresia, Mitral stenosis, Bicuspid aortic valve, Diastasis recti, Atrial septal defect,... ORPHA:1686
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... ORPHA:57777
Danon Disease
Myocardial fibrosis, Myocardial necrosis, EMG: myopathic abnormalities, Dilated cardiomyopathy, G... OMIM:300257
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic valve stenosis OMIM:619698
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Macroglossia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Facial hyp... ORPHA:308552
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Lower limb muscle weakness, Skeletal myopathy, Rhabdomyolysis, Card... ORPHA:746
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricul... OMIM:616564
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy ORPHA:320
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Tendon rupture, Left ventricular hypertrophy, Mitral valve prolapse, Abnorm... ORPHA:230851
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Lower limb hypertonia, Pericardit... OMIM:619487
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ov... ORPHA:99094
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Fabry Disease
Left ventricular hypertrophy, Ventricular septal hypertrophy OMIM:301500
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy ORPHA:90065
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Myopathy, Reduced muscle c... OMIM:212140
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... OMIM:245600
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Left ventricular hypertrophy, Small thenar eminence, Camptodactyly OMIM:619148
Aortic Arch Interruption
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve atresia, Left ventricular hype... ORPHA:2299
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy OMIM:619355
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:618321
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Left ventricular hypertrophy, Quadriceps muscle weakness, EMG: myopathic abnorma... ORPHA:254892
Vici Syndrome
Left ventricular hypertrophy, Dilated cardiomyopathy, Cardiomyopathy, Myopathy OMIM:242840
Mucolipidosis Type Ii
Diastasis recti, Abnormal mitral valve morphology, Hip contracture, Splenomegaly, Left ventricula... ORPHA:576
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Tangier Disease
Facial diplegia, Left ventricular hypertrophy, Hepatosplenomegaly, Coronary artery stenosis ORPHA:31150
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, My... OMIM:115197
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Flexion contracture, Macroglossia,... ORPHA:365
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right atrial enlargement, Left ventricular hypertrophy, Right ventricula... ORPHA:99106
Neuraminidase Deficiency
Hepatomegaly, Splenomegaly, Skeletal muscle atrophy, Cardiomyopathy, Cardiomegaly OMIM:256550
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:261740
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Refsum Disease, Classic
Limb muscle weakness, Cardiomyopathy, Cardiomegaly OMIM:266500
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Contractures of the large joints, Abnormal atrioven... ORPHA:324410
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy ORPHA:42
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:235200
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy OMIM:209900
Fabry Disease
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Abnormal aortic valve morphology, Abno... ORPHA:324
Cranioectodermal Dysplasia 2
Atrial septal defect, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Patent foramen ovale OMIM:613610
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Flexion contracture, Left ventricular hypertrophy, Mitral valve calcification, Pate... OMIM:619127
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Atrial septal defect, Right ventricular hypertrophy, Left ventricular hypertrophy, Abnormal left ... ORPHA:466791
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Exercise-induced rhabdomyolysis, Cardiomegaly OMIM:201475
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly, Torticollis OMIM:617022
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Distal Monosomy 12Q
Congenital hypertrophy of left ventricle, Elbow flexion contracture, Patent foramen ovale ORPHA:96149
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly OMIM:616897
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Hypoplasia of the abdo... OMIM:612289
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Ventricular sep... ORPHA:363705
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Splenomegaly, Cardiomyopathy, Decreased muscle mass, Cardiomegaly ORPHA:465508
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosi... OMIM:602782
Sandhoff Disease
Hepatomegaly, Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly OMIM:268800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb muscle weakness, Cardiomyopathy, Cardiomegaly OMIM:619259
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Glycogen Storage Disease Ii
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Splenomegaly, Limb muscle weakness... OMIM:232300
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Aneurysm-Osteoarthritis Syndrome
Pulmonic stenosis, Left ventricular hypertrophy, Camptodactyly of finger, Abnormal heart morphology ORPHA:284984
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Enlarged kidney, Increased muscle lipid content, Dilated cardiomyopathy, Elbow flex... OMIM:608836
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Cam... OMIM:613795
Fucosidosis
Hepatomegaly, Macroglossia, Flexion contracture, Splenomegaly, Cardiomegaly OMIM:230000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita, Cardiomegaly OMIM:608013
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomegaly OMIM:614921
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly ORPHA:158687
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Hepatomegaly, Macroglossia, Arthrogryposis multiplex congenita, Card... OMIM:618143
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy ORPHA:2463
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... ORPHA:3384
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Hepatomegaly, Macroglossia, Splenomegaly, Enlarged kidney, Camptodactyly, Arthro... OMIM:252500
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, ... ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:618278
Beckwith-Wiedemann Syndrome
Diastasis recti, Hepatomegaly, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopa... OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Macroglossia, Hepatomegaly, Cardiomegaly ORPHA:96191
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Lower limb hypertonia, Bilateral wrist flexion contracture, C... ORPHA:97297
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... ORPHA:99125
Abetalipoproteinemia
Myopathy, Distal lower limb muscle weakness, Hepatomegaly, Cardiomegaly ORPHA:14
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Ogden Syndrome
Torticollis, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Enlarged... OMIM:300855
Histiocytoid Cardiomyopathy
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:137675
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, Cam... OMIM:256040
Aicardi-Goutières Syndrome
Multiple joint contractures, Hepatosplenomegaly, Myositis, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Beckwith-Wiedemann Syndrome
Diastasis recti, Hepatomegaly, Congenital diaphragmatic hernia, Macroglossia, Splenomegaly, Rhabd... ORPHA:116
Liver Disease, Severe Congenital
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Subvalvular aortic s... OMIM:619991
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Macroglossia, Ov... ORPHA:904
Yunis-Varon Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomyopathy, Cardiomegaly ORPHA:3472
Singleton-Merten Syndrome 1
Aortic valve calcification, Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Mitral v... OMIM:182250
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Cardiomegaly ORPHA:51608

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.

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