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Gene: Itpa MGI:96622

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
Synonyms:
2010016I08Rik,  Itp

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Itpa 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 Itpa by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 35
Death in infancy, Intrauterine growth retardation, Limb tremor, Cardiomyopathy OMIM:616647

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Progressive spastic paraplegia, Cardiomyopathy, Difficulty walking, Impaire... ORPHA:320360
Naxos Disease
Sparse body hair, Diffuse palmoplantar hyperkeratosis, Premature ventricular contraction, Arrhyth... OMIM:601214
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Palmoplantar keratoderma, Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular ar... OMIM:610476
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Increased mean corpuscular volume, Extramedullary hematopoi... OMIM:617021
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Ichthyosis, Congenital, Autosomal Recessive 13
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Parana Hard Skin Syndrome
Thickened skin, Growth delay, Generalized hirsutism, Short stature, Hyperkeratosis ORPHA:2812
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... ORPHA:75566
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased... ORPHA:263297
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut... OMIM:615285
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Macular telangiectasia, H... ORPHA:69125
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Delayed puberty, Hyperkeratosis ORPHA:2297
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Decreased testicular size, P... OMIM:610198
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hemat... ORPHA:231226
Combined Oxidative Phosphorylation Deficiency 17
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Postnatal growth retard... OMIM:615440
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Ichthyosis Hystrix Of Curth-Macklin
Ichthyosis, Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis ORPHA:79503
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancy... ORPHA:398124
Noonan Syndrome 8
Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Cryptorchidism, Mitral... OMIM:615355
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Hypergranulosis, Impaired temperature sensation, Imp... ORPHA:2199
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... OMIM:620236
Beta-Thalassemia Major
Hypoplasia of the musculature, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hemat... ORPHA:231214
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Hypertrophic cardiomyopathy, Paresthesia, Myoclonus, Hemiplegia/hemiparesis, Abnormal... ORPHA:79279
Alpha-Thalassemia
Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hepa... ORPHA:846
Hereditary Spherocytosis
Spontaneous hemolytic crises, Restrictive cardiomyopathy, Increased mean corpuscular hemoglobin c... ORPHA:822
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Leber Hereditary Optic Neuropathy
Postural tremor, Myopathy, Arrhythmia, Ataxia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Nathalie Syndrome
Short stature, Arrhythmia ORPHA:2663
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Moynahan Syndrome
Alopecia, Hypogonadism, Cachexia, Short stature, Sparse hair, Hyperkeratosis ORPHA:2574
Cardiofaciocutaneous Syndrome 3
Failure to thrive, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, ... OMIM:615279
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Naxos Disease
Palmoplantar keratoderma, Cardiomyopathy, Congestive heart failure, Arrhythmia, Acanthosis nigric... ORPHA:34217
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Cardiomegaly, Follicular hyperkeratosis, Sparse hair, Congenital bullou... OMIM:613576
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parake... OMIM:615821
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:616198
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Hemiparesis, Arrhythmia, Left ventr... OMIM:540000
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... OMIM:310300
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98853
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Tachy... ORPHA:2041
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Palmoplantar hyperkeratosis, Failure to thrive, Hyperkeratosis ORPHA:89838
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98863
Gaucher Disease, Perinatal Lethal
Respiratory distress, Akinesia, Apnea, Intrauterine growth retardation, Ichthyosis, Hepatosplenom... OMIM:608013
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchidism, Thiamine-responsive... OMIM:249270
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Leukocytosis... ORPHA:824
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Death in infancy, Cachexia, Gait dis... ORPHA:157973
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Ventricular fibri... OMIM:115197
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Symmetrical Thalamic Calcifications
Spasticity, Failure to thrive, Arrhythmia, Hypertonia, Ataxia ORPHA:1314
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Palmoplantar keratoderma, Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversi... OMIM:611528
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Alopecia totalis, Nail dystrophy, Palmoplantar hyperkeratosis, Hyperkera... OMIM:212360
Infantile Refsum Disease
Spasticity, Failure to thrive, Cardiomyopathy, Ichthyosis, Arrhythmia, Ataxia, Short stature, Fac... ORPHA:772
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Anemi... OMIM:259720
Bethlem Muscular Dystrophy
Difficulty walking, Hyperkeratosis, Rimmed vacuoles, Ankle flexion contracture, Muscular dystroph... ORPHA:610
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Hemiplegia/hemiparesis, Dysmetria, Tremor, ... ORPHA:96
Dystonia 23
Head tremor, Myoclonus, Arrhythmia, Gait disturbance, Torticollis OMIM:614860
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Leopard Syndrome 3
Growth delay, Tetralogy of Fallot, Abnormal aortic valve morphology, Abnormal mitral valve morpho... OMIM:613707
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hirsutism, We... ORPHA:317
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Barth Syndrome
Dilated cardiomyopathy, Failure to thrive, Fair hair, Congestive heart failure, Hypertrophic card... OMIM:302060
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Refsum Disease, Classic
Somatic sensory dysfunction, Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Icht... OMIM:266500
Tarp Syndrome
Broad-based gait, Failure to thrive, Extramedullary hematopoiesis, Tetralogy of Fallot, Intrauter... ORPHA:2886
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Nail dystrophy, Absent eyelashes, Absent eyebrow, Short stature, Sparse hair, ... OMIM:618625
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Dilated cardiomyopathy, Sparse eyebrow, Failure to thrive, Ichthyosis, Death in infancy... OMIM:610768
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia, Short stature OMIM:618453
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Second d... OMIM:300257
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Intrauterine growth retardation, Left ventric... OMIM:616733
Costello Syndrome
Hypertrophic cardiomyopathy, Failure to thrive in infancy, Abnormal hair morphology, Thickened Ac... ORPHA:3071
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ... ORPHA:189
Dk1-Cdg
Dilated cardiomyopathy, Failure to thrive, Cardiomyocyte hypertrophy, Congestive heart failure, I... ORPHA:91131
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Perifollicular hyperkeratosis ORPHA:505
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss ORPHA:85447
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Growth delay, Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Int... ORPHA:1194
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Hypogonadism, Limb muscle weakness, Ragged-red muscle fibers, EMG: myopathic abno... OMIM:609286
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Hyperkeratosis, Ataxia OMIM:136300
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failur... OMIM:310200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... ORPHA:300751
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Distal amyotrophy, Inability to walk, Trophic changes related to pain, Impair... ORPHA:36386
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo... OMIM:602390
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Loss of ambulation, Arrhythmia, Gait disturbance, ... OMIM:616516
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg... ORPHA:79395
Osteopetrosis, Autosomal Recessive 2
Facial paralysis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopeni... OMIM:259710
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia OMIM:612840
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Growth delay, Death in childhood, Ichthyosis, Limb hypertonia, Joint contracture, Congenital nonb... OMIM:614457
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Respiratory distress, Episodic tachypnea, Obesity... ORPHA:26793
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosplenomegaly, Eryt... ORPHA:231222
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis, Skeletal muscle atrophy, Myopathy, Arterial rupture ORPHA:300179
Sjögren-Larsson Syndrome
Spasticity, Ichthyosis, Abnormal pyramidal sign, Short stature, Hyperkeratosis, Spastic diplegia ORPHA:816
Ulerythema Ophryogenesis
Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow, Miscarriage ORPHA:3406
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... OMIM:254090
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Congenital Disorder Of Glycosylation, Type Iil
Growth delay, Failure to thrive, Intrauterine growth retardation, Pancytopenia, Splenomegaly, Dea... OMIM:614576
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ... OMIM:615084
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakn... ORPHA:352447
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Apnea, Arrhythmia,... ORPHA:1055
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma ORPHA:498359
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro... ORPHA:228410
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Failure to thrive, Extramedullary hematopoiesis ORPHA:79303
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,... OMIM:615024
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Hemiparesis, Bicuspid aor... ORPHA:363705
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Ri... ORPHA:99106
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Patchy alopecia, Hyperkeratosis OMIM:247100
Rheumatic Fever
Epistaxis, Fasciculations, Abnormal heart valve morphology, Chorea, Abnormal mitral valve morphol... ORPHA:3099
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Distal arthrogryposis, Cachexia, Arrhythmia, Ataxia ORPHA:42
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Skeletal muscle atrophy, Hypertrichosis, Po... OMIM:246200
Sialidosis Type 1
Skeletal muscle atrophy, Myoclonus, Splenomegaly, Tremor, Gait disturbance, Ataxia, Short stature... ORPHA:812
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Hypogonadotropic hypogonadism, Hyper... ORPHA:494
Fucosidosis
Spasticity, Failure to thrive, Decreased muscle mass, Generalized hyperkeratosis, Cardiomegaly, A... ORPHA:349
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Growth delay, Hypergra... OMIM:242100
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye... OMIM:602540
Isolated Atp Synthase Deficiency
Spastic paraplegia, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Respirator... ORPHA:254913
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Growth delay, Failure to thrive, Hypertrophic cardiomyopathy, Intraute... OMIM:614052
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Sideroblastic anemia, Ragged-red muscle fibe... OMIM:530000
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Singleton-Merten Syndrome 2
Aortic valve stenosis, Aortic valve calcification, Arrhythmia, Short stature, Hyperkeratosis OMIM:616298
Olmsted Syndrome 2
Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion contracture of d... OMIM:619208
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Atrophoderma Vermiculata
Hyperkeratotic papule, Follicular hyperkeratosis, Heart block ORPHA:79100
Acquired Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis ORPHA:454
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Hemolytic anemia, Exercise-induced rhabdomyolysis, S... ORPHA:57
Bathing Suit Ichthyosis
Thickened skin, Alopecia, Impaired temperature sensation, Nail dystrophy, Multiple joint contract... ORPHA:100976
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Skeletal muscle atrophy, Distal sensory impairment, Hand muscle atrophy, Arrhythmia, Gait disturb... ORPHA:99944
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnormal tendon morphology, Tetr... ORPHA:85446
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Failure to thrive, Orthokeratosis, Hypergranulosis, Multiple muscular v... OMIM:615508
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Werner Syndrome
Abnormal hair whorl, Skeletal muscle atrophy, Premature graying of hair, Hypogonadism, Slender bu... ORPHA:902
Hemochromatosis, Type 1
Alopecia, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Cardiomegaly, Hypo... OMIM:235200
Congenital Syphilis
Extramedullary hematopoiesis, Intrauterine growth retardation, Hepatosplenomegaly, Anemia, Thromb... ORPHA:499009
Trichothiodystrophy 1, Photosensitive
Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Death in infan... OMIM:601675
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... ORPHA:1880
Noonan Syndrome 10
Sparse eyebrow, Hypertrophic cardiomyopathy, Cryptorchidism, Mitral valve prolapse, Ventricular s... OMIM:616564
Ramon Syndrome
Generalized hirsutism, Telangiectasia of the skin, Hyperkeratosis, Failure to thrive ORPHA:3019
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Hypogonadism, Cryptorchidism, Ichthyosis, Testicular seminoma, Short stature, Hyp... ORPHA:281090
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,... OMIM:604117
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Limb muscle weakness, Myopathy, Arrhythmia, Hypomimic face, Ataxia, Bradykinesia,... ORPHA:254892
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Nail dystrophy, Sparse eyelashes, Sparse axillary ha... ORPHA:1808
Wild Type Attr Amyloidosis
Aortic valve stenosis, Impaired vibratory sensation, Congestive heart failure, Hypertrophic cardi... ORPHA:330001
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy, Ataxia ORPHA:3222
Spinocerebellar Ataxia 34
Spasticity, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnormal pyramidal sign, ... OMIM:133190
Ogden Syndrome
Shuffling gait, Cardiogenic shock, Fine hair, Postnatal growth retardation, Aplasia/Hypoplasia of... ORPHA:276432
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Parakeratosis, Palmo... OMIM:242300
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Postnatal growth retardation, Mitral regurg... ORPHA:75249
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Death in infancy, Hypertonia, Ataxia, Flexion contracture, Hyperkeratosis OMIM:609180
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Ichthyosis, Dysmetria, Tremor, Babinski sign, Parakeratosis, Acan... OMIM:618527
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Arrhythmia, Gait disturbance, Truncal obesity, Short stature ORPHA:2928
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyper... OMIM:601952
Congenital Disorder Of Glycosylation, Type Iq
Spasticity, Failure to thrive, Hypertrichosis, Microcytic anemia, Ichthyosis, Hyperkeratosis OMIM:612379
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Hydrops Fetalis
Abnormal heart morphology, Arrhythmia, Pericardial effusion, Small for gestational age, Capillary... ORPHA:1041
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Congest... ORPHA:682
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Weight loss, Hyperkeratosis, Congenital bullous ichthyosifo... ORPHA:312
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Bazex Syndrome
Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Acanthosis nigricans, Anem... ORPHA:166113
Cole Disease
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m... OMIM:615522
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Small for gestational age, Failure to ... OMIM:615471
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar... OMIM:300918
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Brittle hair, Short st... ORPHA:1883
Fabry Disease
Mitral regurgitation, Arrhythmia, Hyperkeratosis, Acroparesthesia, Hypertrophic cardiomyopathy, B... ORPHA:324
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Myoclonus, Cryptorchidism, Death in infancy, Arrhythmia, Ambiguous genitalia, Card... ORPHA:168593
Fabry Disease
Fasciculations, Congestive heart failure, Transient ischemic attack, Paresthesia, Ventricular sep... OMIM:301500
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Orthokeratosis, Congenital ichthyosiform erythroderma, Parakeratosis, Single ventricle,... OMIM:308050
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617571
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Lower limb muscle weakness, Cardiomyopathy, Failure to thrive in infancy, Tricuspid... ORPHA:746
Noonan Syndrome 5
Sparse eyebrow, Fine hair, Hypertrophic cardiomyopathy, Large for gestational age, Cryptorchidism... OMIM:611553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Fine hair, Hypertrophic cardiomyopathy, Abnormal heart valve morphology... ORPHA:1340
Proteus Syndrome
Hyperkeratosis, Splenomegaly OMIM:176920
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... OMIM:618546
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Torsade de pointes, Gait ataxia, Rhabdomyolysis, Premature thelarche... OMIM:616878
Ichthyosis With Erythrokeratoderma
Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse palmoplanta... OMIM:620507
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Postnatal growth retardation, Large for gestational age, Diastasis rec... ORPHA:254534
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Pili torti, Brittle hair, Short stature, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Alternating Hemiplegia Of Childhood
Failure to thrive, Episodic hemiplegia, Tetraparesis, Cardiomyopathy, Thin eyebrow, Chorea, Abnor... ORPHA:2131
Hemochromatosis, Type 4
Anemia, Arrhythmia, Cardiomyopathy OMIM:606069
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Hemiplegia/hemiparesis, Arrhythmia, Sudden ... ORPHA:156
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Orthokeratotic hyperkera... OMIM:148700
Chilblain Lupus
Chronic myelomonocytic leukemia, Hyperkeratosis, Raynaud phenomenon ORPHA:90280
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... OMIM:261740
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Alopecia, Hyperkeratosis, Splenomegaly ORPHA:2584
Lymphatic Malformation 12
Death in adolescence, Hydrocele testis, Hyperkeratosis, Neonatal death OMIM:620014
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Gait ataxia, Arrhythmia, Head titubation, Truncal ataxia, Frequent falls, Inten... OMIM:620208
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Aortic regurgitation, Sparse scalp hair, Failure to thrive, Hypertrophic cardi... OMIM:607721
Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis, Cryptorchidism ORPHA:461
19P13.12 Microdeletion Syndrome
Precocious puberty, Aortic regurgitation, Arthrogryposis multiplex congenita, Obesity, Intrauteri... ORPHA:254346
Neuropathy, Hereditary Sensory, Type If
Hypoesthesia, Hyperkeratosis, Impaired pain sensation OMIM:615632
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Highly arched eyebrow, Obesity, Arrhythmia, Subvalvular aortic stenosis, Shor... OMIM:600430
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Howell-Jolly bodies, Abnormal... ORPHA:85443
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Subaortic Stenosis-Short Stature Syndrome
Obesity, Arrhythmia, Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis, Short s... ORPHA:3191
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal hair morphology, Parakeratosis, Arrhythmia OMIM:618531
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoulder girdle mus... ORPHA:565612
Noonan Syndrome 2
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hairline, Bicuspi... OMIM:605275
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Alopecia of scalp, Gener... ORPHA:2269
Noonan Syndrome With Multiple Lentigines
Growth delay, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, In... ORPHA:500
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Myelofibrosis
Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis OMIM:254450
Leprechaunism
Thickened skin, Clitoral hypertrophy, Long penis, Skeletal muscle atrophy, Failure to thrive, Fac... ORPHA:508
Cardiofaciocutaneous Syndrome 1
Failure to thrive, Hypertrophic cardiomyopathy, Ichthyosis, Splenomegaly, Absent eyelashes, Low p... OMIM:115150
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Short sta... OMIM:259730
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Leukonychia, Nail dystrophy, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Poikiloderma With Neutropenia
Sparse eyebrow, Palmoplantar keratoderma, Sparse lateral eyebrow, Growth delay, Leukopenia, Nail ... OMIM:604173
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Congestive heart failure, Portal hypertension, Splenomegal... ORPHA:465508
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyelashes, Curly h... OMIM:602400
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Sparse hair, Hyperkeratosis OMIM:224750
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia ORPHA:230839
Pachyonychia Congenita
Alopecia, Palmoplantar keratoderma, Failure to thrive, Respiratory distress, Nail dystrophy, Line... ORPHA:2309
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Nail dystrophy ORPHA:89843
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
High anterior hairline, Abnormality of nail color, Camptodactyly of finger, Hypogonadism, Abnorma... ORPHA:3220
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Dysmetria, Mildly reduced left ventricular ejection fraction, Arrhythmia, Ataxia OMIM:618098
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Rhabdomyolysis, Myopathy, Ar... OMIM:609015
Hypotrichosis Simplex Of The Scalp
Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Slow-growing scal... ORPHA:90368
Bone Marrow Failure Syndrome 3
Aplastic anemia, Failure to thrive, Increased mean corpuscular volume, Persistence of hemoglobin ... OMIM:617052
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ... ORPHA:573
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Brittle hair, Plantar hyperkerat... OMIM:104100
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Follicular hyperkeratosis, Patent ductus arteriosus OMIM:615147
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Cardiomyopathy, Rhabdomyolysis, Myopathy, Arrhythmia ORPHA:228305
Harlequin Ichthyosis
Ichthyosis, Sudden cardiac death, Hyperkeratosis, Congenital ichthyosiform erythroderma ORPHA:457
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Hyperkeratosis OMIM:607936
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... ORPHA:99104
Fgfr2-Related Bent Bone Dysplasia
Clitoral hypertrophy, Hepatosplenomegaly, Extramedullary hematopoiesis, Hirsutism ORPHA:313855
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Hyperkeratosis OMIM:617525
Ichthyosis, Annular Epidermolytic, 1
Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar hyperkerat... OMIM:607602
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Tremor, Arrhythmia, Hypertonia, Ataxia, Car... ORPHA:99745
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, ... OMIM:612281
Hec Syndrome
Endocardial fibroelastosis, Arrhythmia, Vaginal hydrocele, Cardiomyopathy ORPHA:2119
Spontaneous Periodic Hypothermia
Arrhythmia, Gait disturbance, Tremor, Ataxia ORPHA:29822
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Abnormal morphology of female internal genitalia, Sparse hair, Hyperkeratosis ORPHA:1839
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Hemifacial spasm, Bundle branch block, Congestive heart fail... ORPHA:466677
Pagod Syndrome
Hypoplastic left heart, Abnormality of the uterus, Abnormal morphology of female internal genital... ORPHA:991
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, Sparse hair OMIM:607903
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Sp... OMIM:617388
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Iron deficiency anemia, Ventricular fibrillation, Prolon... ORPHA:90647
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Neutropenia, Ataxia OMIM:616949
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia, Sudden episodic... ORPHA:159
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:613943
Ulnar-Mammary Syndrome
Abnormality of the uterus, Camptodactyly of finger, Breast aplasia, Obesity, Cryptorchidism, Vent... ORPHA:3138
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Subvalvular a... OMIM:620067
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Hermansky-Pudlak Syndrome
Thickened skin, Gastrointestinal hemorrhage, Epistaxis, Cardiomyopathy, Long eyelashes, Weight lo... ORPHA:79430
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Congestive heart failure, Inability to walk, Abnormal he... ORPHA:26791
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Hip contracture, Ventricular septal defect, Death in childhood, Sparse eyelashes,... OMIM:210710
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Alopecia, Moderate postnatal growth retardation, Intrauterine growth retard... ORPHA:1005
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Inability to walk, Reduced left ... ORPHA:258
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia ORPHA:464453
Systemic Capillary Leak Syndrome
Hypotension, Leukocytosis, Arrhythmia, Weight loss, Myocarditis, Pericarditis ORPHA:188
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis ORPHA:38
Mgat2-Cdg
Failure to thrive, Abnormal heart morphology, Respiratory distress, Long eyelashes, Ventricular s... ORPHA:79329
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Hyperkeratosis, Abnormal vagina morphology ORPHA:1334
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Alopecia, Coarse hair, Nail dystrophy, Corneal neovascularization, Eosinophilia, F... OMIM:158310
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Intrauterine growth retardation, Death in infancy, Short stature, Hyperkeratosis ORPHA:163966
Lamellar Ichthyosis
Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Short stature, Sparse hair, Hyperkeratosis ORPHA:313
Ectodermal Dysplasia/Short Stature Syndrome
Short stature, Palmoplantar keratoderma, Nail dystrophy, Hyperkeratosis OMIM:616029
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hyperkeratosis, Failure to thrive, Death in childhood OMIM:301108
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis OMIM:173200
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Abnormal EKG, Leukonychia, Sparse eyelashes, Sparse axillary ha... OMIM:613102
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Failure to thrive, Hypereosinophilia, Parakeratosis, Brittle ... OMIM:256500
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Alopecia, Fair hair, Cardiomyopathy, Abnormal heart morphology, Speech apraxi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Alopecia, Fair hair, Cardiomyopathy, Abnormal heart morphology, Speech apraxi... ORPHA:363958
Incontinentia Pigmenti
Spasticity, Alopecia, Dystrophic toenail, Camptodactyly of finger, Abnormal hair morphology, Supe... ORPHA:464
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Arrhythmia, Thrombocytopenia, Myocardial infa... ORPHA:54057
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Sparse body hair, Absent eyelashes, Trichodysplasia, Absent eyebrow, Follic... ORPHA:1809
Giant Cell Arteritis
Vasculitis, Alopecia, Epistaxis, Double outlet right ventricle with subpulmonary ventricular sept... ORPHA:397
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Intrauterine growth retardation, Patent foramen ovale, Arrhythmia, ... OMIM:619184
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis OMIM:618339
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Involuntary movements, Abnormal EKG, Incoordination, Abnormality of extrapyramidal motor function... ORPHA:480864
Legionnaires Disease
Hypotension, Lymphopenia, Splenomegaly, Arrhythmia, Ataxia, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Ichthyosis, Congenital, Autosomal Recessive 9
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Hypergranulosis OMIM:615023
Acrokeratosis Verruciformis
Acrokeratosis, Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis OMIM:101900
Porokeratosis 3, Multiple Types
Parakeratosis, Nail dystrophy, Porokeratosis OMIM:175900
Kleefstra Syndrome
Highly arched eyebrow, Supernumerary nipple, Tetralogy of Fallot, Obesity, Cryptorchidism, Ventri... ORPHA:261494
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkera... OMIM:606545
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Premature graying of hair, Abnormal hair morph... ORPHA:79474
Juvenile Dermatomyositis
Vasculitis, Alopecia, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis,... ORPHA:93672
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Failure to thrive in infancy, Respiratory distress, Splenomegaly, Neutrophilia, Hyperkeratosis OMIM:612852
Lymphatic Malformation 4
Hydrocele testis, Hyperkeratosis OMIM:615907
Monilethrix
Alopecia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Perifollicular ... OMIM:158000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elbow flexion contracture, Apnea, Increased muscle lipid content, Knee fl... OMIM:608836
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Elbow flexion contracture, Nail dystrophy, Knee flexion contracture, ... OMIM:148210
Ogden Syndrome
Torsade de pointes, Postnatal growth retardation, Cryptorchidism, Ventricular septal defect, Bicu... OMIM:300855
Xeroderma Pigmentosum
Thickened skin, Spasticity, Alopecia, Failure to thrive, Hypogonadism, Decreased testicular size,... ORPHA:910
Agel Amyloidosis
Cardiomyopathy, Nail dystrophy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia,... ORPHA:85448
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Myocarditis ORPHA:3386
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Clitoral hypertrophy, Congenital diaphragmatic hernia, Histiocyto... OMIM:309801
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Incontinentia Pigmenti
Alopecia, Spasticity, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypopl... OMIM:308300
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, Acanthocytosis, Parakeratosis, Congenital nonbullous ic... OMIM:604777
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Difficulty walking, Myositis... ORPHA:99845
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Microcytic anemia, Arrhythmia, Flexion contracture of finger, Epididym... OMIM:256040
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Joint contracture of the hand, Skeletal muscle atrophy, Trichodysplasia, Absent eyebr... OMIM:601701
Microphthalmia With Linear Skin Defects Syndrome
Clitoral hypertrophy, Congenital diaphragmatic hernia, Mitral valve prolapse, Mitral regurgitatio... ORPHA:2556
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cryptorchidism, Death in childhood, Neonatal death, Absent eyelashes, Absent eyebrow, Atrial sept... OMIM:308205
Dowling-Degos Disease
Hyperkeratotic papule, Scrotal hyperpigmentation, Penile freckling, Hyperkeratosis ORPHA:79145
Leber Optic Atrophy
Postural tremor, Arrhythmia, Myopathy, Ataxia OMIM:535000
De Sanctis-Cacchione Syndrome
Severe short stature, Spasticity, Bilateral cryptorchidism, Telangiectasia, Babinski sign, Scisso... OMIM:278800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia, ... ORPHA:79280
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Nail dystrophy, Corneal neovascularization, Parakeratosis, Follicular h... OMIM:615225
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Leukonychia, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Telangiectases of t... OMIM:616295
Noonan Syndrome
Coarse hair, Juvenile myelomonocytic leukemia, Abnormal EKG, Hypertrophic cardiomyopathy, Postnat... ORPHA:648
Acute Radiation Syndrome
Hypotension, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia, Hyperkeratosis ORPHA:454831
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Coarse hair, Failure to thrive, Respiratory distress, Postnatal growth ... ORPHA:83617
Prolidase Deficiency
Palmoplantar keratoderma, White forelock, Splenomegaly, Hirsutism, Generalized hirsutism, Low ant... ORPHA:742
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:620148
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelashes, Dystrophic fingernail... OMIM:308800
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Orthokeratosis, Portal hypertension, Ichthyosis, Splenomegaly, Sparse e... OMIM:607626
Lipoid Proteinosis
Thickened skin, Alopecia of scalp, Hyperkeratosis ORPHA:530
Colchicine Poisoning
Alopecia, Hypotension, Cardiogenic shock, Congestive heart failure, Respiratory distress, Leukocy... ORPHA:31824
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis, Tremor, Ataxia ORPHA:28378
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Leprosy
Epistaxis, Alopecia, Skeletal muscle atrophy, Testicular mass, Dissociated sensory loss, Sparse b... ORPHA:548
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Palmoplantar keratoderma, Decreased testicular size, External genital hypop... OMIM:610644
Chime Syndrome
Acute leukemia, Fine hair, Tetralogy of Fallot, Ichthyosis, Ventricular septal defect, Pulmonary ... ORPHA:3474
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Premature Aging Syndrome, Penttinen Type
Thickened skin, Failure to thrive, Flexion contracture of finger, Palmoplantar hyperkeratosis, Jo... OMIM:601812
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Failure to thrive, Limb muscle weakness, Arrhythmia, Left bundle branch blo... OMIM:610131
Psoriasis 2
Parakeratosis, Hyperkeratosis OMIM:602723
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... ORPHA:99094
Heart-Hand Syndrome Type 2
Low posterior hairline, Arrhythmia, Cryptorchidism ORPHA:1350
Oculodentodigital Dysplasia
Spasticity, Spastic paraparesis, Palmoplantar keratoderma, Fine hair, Camptodactyly of finger, Cu... ORPHA:2710
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Fine hair, Short stature, Sparse hair, Epidermal hyperkeratosis OMIM:190351
Schwartz-Jampel Syndrome
Myopathy, Hip contracture, Decreased body weight, Generalized hirsutism, Cachexia, Arrhythmia, Bl... ORPHA:800
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Subdural hemorrhage, Difficulty walking, Arterial rupture, Myopathy, Bic... ORPHA:536545
Lichen Planopilaris
Alopecia, Hyperkeratosis ORPHA:525
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Ichthyosis Prematurity Syndrome
Follicular hyperkeratosis, Generalized ichthyosis, Alopecia of scalp OMIM:608649
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Familial Isolated Hypoparathyroidism
Short stature, Arrhythmia, Myopathy ORPHA:2238
Reactive Arthritis
Aortic regurgitation, Dystrophic fingernails, Weight loss, Hyperkeratosis, Pericarditis ORPHA:29207
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Orthokerat... OMIM:257980
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Failure to thrive, Breast aplasia, Trichorrhexis nodosa, Ap... ORPHA:238468
Vulvovaginal Gingival Syndrome
Abnormal female external genitalia morphology, Parakeratosis ORPHA:83453
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis, Exercise-induced rhabdomyolysis ORPHA:284426
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Spasticity, High anterior hairline, Somatic sensory dysfunction, Orthostatic hypotension, Ataxia,... OMIM:615510
Variegate Porphyria, Childhood-Onset
Epidermal hyperkeratosis OMIM:620483
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Sparse hair, Hyperkeratosis, Fine hair ORPHA:1806
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans ORPHA:409
Kid Syndrome
Sparse eyebrow, Palmoplantar keratoderma, Failure to thrive, Congenital ichthyosiform erythroderm... ORPHA:477
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Arrhythmia, Low anterior hairline, Camptodactyly of finger ORPHA:3201
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Fine hair ORPHA:1028
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Arrhythmia OMIM:255120
Von Hippel-Lindau Disease
Upper limb muscle weakness, Cardiomyopathy, Abnormal left ventricular function, Polycythemia, Pal... ORPHA:892
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Trichorrhexis nodosa, Nail dyst... OMIM:617337
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Broad eyebrow, Frontal upsweep of hair, Hyperkeratosis OMIM:301220
Hennekam-Beemer Syndrome
Thickened skin, Hypotension, Mastocytosis, Failure to thrive, Camptodactyly of finger, Arrhythmia... ORPHA:2135
Chromomycosis
Hyperkeratotic papule, Hyperkeratosis, Hyperparakeratosis ORPHA:182
Restrictive Dermopathy 1
Sparse eyebrow, Short nail, Aplasia/Hypoplasia of the eyebrow, Intrauterine growth retardation, N... OMIM:275210
Oculodentodigital Dysplasia
Spasticity, Dry hair, Fine hair, Tetraparesis, Joint contracture of the 5th finger, Arrhythmia, P... OMIM:164200
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Coarse hair, Moderate postnatal growth retardation, Knee flexion co... OMIM:118650
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Alopecia, Telangiectasia of extensor sur... OMIM:137940
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachypnea, Tachycardia, Capi... ORPHA:542323
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Paresthesia, Arrhyt... ORPHA:727
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Tricuspid regurgitation, Type 1 muscle fiber predominance, Mitral regurg... OMIM:614557
African Trypanosomiasis
Difficulty walking, Hepatosplenomegaly, Hemiparesis, Arrhythmia, Weight loss, Choreoathetosis, In... ORPHA:3385
Cockayne Syndrome B
Severe short stature, Dry hair, Failure to thrive, Abnormal hair morphology, Postnatal growth ret... OMIM:133540
Localized Scleroderma
Thickened skin, Vasculitis, Skeletal muscle atrophy, Myopathy, Patchy alopecia, Arrhythmia, Rayna... ORPHA:90289
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Failure to thrive in infancy, Proportionate short stature, Arrhythmia, Weight ... ORPHA:171876
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy OMIM:167200
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Failure to thrive, Obesity, Gait ataxia, Phimosis, Dysmetria, Low anterior... ORPHA:75857
Dermatomyositis
Vasculitis, Alopecia, Abnormal eosinophil morphology, Sinus tachycardia, Inflammatory myopathy, M... ORPHA:221
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Extrapyramidal muscular rigidity, Chorea, T... ORPHA:94093
Lichen Planus Pemphigoides
Hyperkeratosis ORPHA:254478
Holoprosencephaly
Highly arched eyebrow, Spasticity, Tetralogy of Fallot, Failure to thrive in infancy, Chorea, Thi... ORPHA:2162
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Cockayne Syndrome A
Dry hair, Failure to thrive, Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Hip c... OMIM:216400
Restrictive Dermopathy
Sparse eyebrow, Short nail, Arthrogryposis multiplex congenita, Camptodactyly of finger, Generali... ORPHA:1662
Cowden Syndrome
Abnormal penis morphology, Palmoplantar keratoderma, Failure to thrive, Abnormality of the uterus... ORPHA:201
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Rhabdomyolysis, Myopathy, Arrhythmia ORPHA:157
Phakomatosis Pigmentokeratotica
Hyperesthesia, Precocious puberty, Cryptorchidism, Hemiparesis, Patchy alopecia, Arrhythmia, Rayn... ORPHA:2874
Familial Multiple Nevi Flammei
Pulmonary embolism, Hemiplegia, Hemiparesis, Arrhythmia, Intracranial hemorrhage ORPHA:624
Oculocutaneous Albinism Type 1A
Albinism, Thickened skin, Hypopigmentation of hair, Hyperkeratosis ORPHA:79431
16P11.2P12.2 Microdeletion Syndrome
Impaired pain sensation, Camptodactyly of finger, Tricuspid regurgitation, Intrauterine growth re... ORPHA:261211
Psoriasis 14, Pustular
Parakeratosis, Leukocytosis, Nail dystrophy, Neutrophilia OMIM:614204
Mucopolysaccharidosis Type 2
Growth delay, Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, Abnorm... ORPHA:580
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Hypoplastic nipples, Sparse hair, Arrhythmia OMIM:273400
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight, Parakeratosis ORPHA:64745
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block ORPHA:228308
Mucopolysaccharidosis Type 2, Severe Form
Growth delay, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Hepatospl... ORPHA:217085
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Spasticity, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology, Splenomegaly, A... ORPHA:163746
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Prostate cancer... ORPHA:79501
Mucopolysaccharidosis Type 2, Attenuated Form
Growth delay, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Hepatospl... ORPHA:217093
Ramon Syndrome
Hypertrichosis, Enlarged labia minora, Decreased body weight, Telangiectasia, Short stature, Hype... OMIM:266270
Costello Syndrome
Sparse hair, Failure to thrive, Hypertrophic cardiomyopathy, Curly hair, Mitral valve prolapse, V... OMIM:218040
Milroy Disease
Hydrocele testis, Hyperkeratosis ORPHA:79452
Peeling Skin Syndrome 6
Parakeratosis, Orthokeratosis OMIM:618084
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Eec Syndrome
Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Hypoplasia of the thymus, ... ORPHA:1896
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Hemiplegia, Cerebral ischemia, Hypertension, ... ORPHA:900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia, Failure to thrive ORPHA:60040
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Vasculitis in the skin ORPHA:163525
Lymphedema-Distichiasis Syndrome
Yellow nails, Tetralogy of Fallot, Ventricular septal defect, Distichiasis, Arrhythmia, Patent du... OMIM:153400
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Anoperineal fistula, Failure to thrive, Palmoplantar keratoderma, Difficult... ORPHA:158668
Wiskott-Aldrich Syndrome
Vasculitis, Hematochezia, Epistaxis, Abnormal eosinophil morphology, Acute leukemia, Recurrent in... ORPHA:906
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Increased red blood cell count, Hemiparesis, Arrhythmia, Ataxia, Facial palsy ORPHA:68
Lyme Disease
Arrhythmia, Paresthesia, Atrioventricular block ORPHA:91546
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Cervix cancer, Embryonal rhabdomyosarcoma, Hyperkeratosis OMIM:620189
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis ORPHA:158681
Mycetoma
Paraplegia, Cobblestone-like hyperkeratosis, Painless fractures due to injury ORPHA:2583
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Leptospirosis
Hypotension, Respiratory distress, Pulmonary hemorrhage, Rhabdomyolysis, Arrhythmia, First degree... ORPHA:509
Ulnar-Mammary Syndrome
Small scrotum, Imperforate hymen, Axillary apocrine gland hypoplasia, Sparse lateral eyebrow, Elb... OMIM:181450
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Arrhythmia, Cerebral palsy ORPHA:228371
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Camptodactyly of finger, Phimosis, Anemia, Flexion contracture, Hyperke... ORPHA:2908
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Tetralogy of Fallot, Thick eyebrow, Female pseudohermaphroditism, Cryptorc... ORPHA:1519
Lymphatic Filariasis
Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Vaginal hydrocele, Hydrocele testis, Hy... ORPHA:2035
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrioventricular block, Disproportionate short stature, Rhizomelic arm shortening, Arrhythmia, My... ORPHA:93317
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Alopecia, Growth delay, Failure to thrive, Camptodactyly of finger, Abnorma... ORPHA:2273
Kawasaki Disease
Vasculitis, Abnormality of nail color, Double outlet right ventricle with subpulmonary ventricula... ORPHA:2331
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse pubic hair, Sparse eyebrow, Fair hair, Facial hirsutism, Transverse vaginal septum, Crypto... OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse hair, Sparse pubic hair, Sparse eyebrow, Fair hair, Transverse vaginal septum, Cryptorchid... OMIM:129900
Botulism
Diaphragmatic paralysis, Arrhythmia, Cerebral palsy ORPHA:1267
Ivic Syndrome
Severe short stature, Leukocytosis, Arrhythmia, Thrombocytopenia, Rectovaginal fistula ORPHA:2307
Carney Triad
Gastrointestinal hemorrhage, Arrhythmia, Leiomyosarcoma, Anemia, Tachycardia, Hypertension ORPHA:139411
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thickened skin, Tricuspid regurgitation, Thick eyebrow, Mitral regurgitation, Hypoplastic sweat g... ORPHA:73223
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Pachyonychia Congenita 3
Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Palmar hyperkeratosis, Plant... OMIM:615726
Familial Mediterranean Fever
Vasculitis, Leukocytosis, Splenomegaly, Orchitis, Arrhythmia, Myocardial infarction, Pericarditis ORPHA:342
Developmental And Epileptic Encephalopathy 35
Death in infancy, Intrauterine growth retardation, Limb tremor, Cardiomyopathy OMIM:616647
Familial Keratoacanthoma
Hyperkeratosis ORPHA:493
Plague
Hypotension, Respiratory distress, Splenomegaly, Arrhythmia, Hematemesis, Tachycardia, Unsteady g... ORPHA:707
Kanzaki Disease
Distal sensory impairment, Lacunar stroke, Telangiectasia of the oral mucosa, Lip telangiectasia,... OMIM:609242
Proteus Syndrome
Thickened skin, Long penis, Pulmonary embolism, Thymus hyperplasia, Decreased muscle mass, Genera... ORPHA:744
Lymphedema-Distichiasis Syndrome
Distichiasis, Patent ductus arteriosus, Arrhythmia ORPHA:33001
Autosomal Dominant Hypocalcemia
Alopecia, Hypotension, Congestive heart failure, Paresthesia, Arrhythmia, Cortical myoclonus ORPHA:428
Stickler Syndrome
Skeletal muscle atrophy, Slender build, Hemiplegia/hemiparesis, Mitral valve prolapse, Cachexia, ... ORPHA:828
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Short nail, Cardiomyopathy, Supernumerary nipple, Hypert... OMIM:312870
Sarcoidosis
Alopecia, Leukopenia, Portal hypertension, Abnormal reproductive system morphology, Increased T c... ORPHA:797
Meige Disease
Cobblestone-like hyperkeratosis ORPHA:90186
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Cystocele, Paresthesia, Apnea, Mitral valve prolapse, Arrhythmia, Aplasia/Hypoplasia o... ORPHA:285
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Arterial rupture, Gastrointestinal hemorrhage, Follicular hyperkeratosis, Congestive heart failure OMIM:225400
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelia, Disproportionate short stature, Arrhythmia, Atrial septal defect, Myocarditis OMIM:250220
Warburg-Cinotti Syndrome
Ankle flexion contracture, Elbow flexion contracture, Corneal neovascularization, Wrist flexion c... OMIM:618175
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Telangiectasia of the skin, Hyperparakeratosis ORPHA:276280
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300

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 Itpa

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 Itpa.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Neural stem cell-specific ITPA deficiency causes neural depolarization and epilepsy. JCI insight (November 2020) Itpatm2a(EUCOMM)Wtsi PMC7710303

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MGI Allele Allele Type Produced
Itpatm48555(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Itpatm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itpatm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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