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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
Cardiomyopathy, Death in infancy, Limb tremor, Intrauterine growth retardation OMIM:616647

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palmoplantar keratoderm... OMIM:610476
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Small for gestational age, Ext... OMIM:617021
Naxos Disease
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... OMIM:601214
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Parana Hard Skin Syndrome
Short stature, Thickened skin, Respiratory insufficiency, Growth delay, Hyperkeratosis, Generaliz... ORPHA:2812
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Lower limb spasticity, Supraventricular arrhythmia, Babinski sign, Impaired vibration sensation i... ORPHA:320360
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Respiratory insufficiency... OMIM:300696
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, Type 1 muscle fib... OMIM:255160
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... OMIM:612999
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... OMIM:620236
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Hypospadias, Sudden cardiac death, P... OMIM:610198
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... ORPHA:263297
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Anonychia With Flexural Pigmentation
Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Follicular hyperkeratosis, Alop... ORPHA:69125
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism, Delayed puberty ORPHA:2297
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... OMIM:615285
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... ORPHA:231226
Noonan Syndrome 8
Atrial septal defect, Curly hair, Ventricular septal defect, Short stature, Large for gestational... OMIM:615355
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Beta-Thalassemia Major
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... ORPHA:231214
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Combined Oxidative Phosphorylation Deficiency 17
Death in infancy, Postnatal growth retardation, Congestive heart failure, Death in childhood, Int... OMIM:615440
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Reduced f... OMIM:617066
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Symmetrical Thalamic Calcifications
Ataxia, Spasticity, Respiratory insufficiency, Hypertonia, Arrhythmia, Failure to thrive ORPHA:1314
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis, Nail dystrophy, Ichthyosis ORPHA:79503
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Death in infancy, Cachexia, Congestive heart failure, Flexion contractur... ORPHA:157973
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... ORPHA:2041
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Impaired ... ORPHA:2199
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Parakeratosis, Pancytopenia, Aplastic anemia, Heart bloc... ORPHA:398124
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Spasticity, Telangie... ORPHA:79279
Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... ORPHA:98853
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Respiratory insuffic... OMIM:310200
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Splenomegaly... ORPHA:822
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Leber Hereditary Optic Neuropathy
Ataxia, Postural tremor, Retinal telangiectasia, Ventricular preexcitation, Myopathy, Arrhythmia ORPHA:104
X-Linked Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... ORPHA:98863
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Nathalie Syndrome
Arrhythmia, Short stature ORPHA:2663
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Cardiofaciocutaneous Syndrome 3
Curly hair, Ventricular septal defect, Short stature, Hyperkeratosis, Pulmonic stenosis, Atrial s... OMIM:615279
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi... ORPHA:486815
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hyperkeratosis, Hypogonadism, Sparse hair ORPHA:2574
Naxos Disease
Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear... ORPHA:34217
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifo... OMIM:613576
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... OMIM:616198
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... OMIM:608758
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Hyperkeratosis, Sync... OMIM:615821
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Short stature, Facial palsy, Clonus, Thrombocytopenia... OMIM:259720
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudde... OMIM:310300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Short stature, Ataxia, Situs inversus totalis, T... OMIM:249270
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ... OMIM:612098
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Dystrophic toenail, Failure to thrive, Palmoplantar hyperkeratosis ORPHA:89838
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Tetraplegia... OMIM:610768
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Akinesia, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatospleno... OMIM:608013
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly of finger, Cong... ORPHA:1194
Desminopathy
Sudden cardiac death, Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakne... ORPHA:98909
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Respiratory insufficiency d... OMIM:254090
Infantile Refsum Disease
Short stature, Facial palsy, Ataxia, Spasticity, Cardiomyopathy, Ichthyosis, Arrhythmia, Failure ... ORPHA:772
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dyst... OMIM:212360
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Facial palsy, Dyspnea, Ragged-red muscle fibers, Dilated cardiomy... OMIM:615084
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Fair hair, Cyclic neutr... OMIM:302060
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thrombocytopenia, Leuk... ORPHA:824
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a... ORPHA:45452
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... ORPHA:96
Erythrokeratodermia Variabilis
Alopecia, Short stature, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Weight los... ORPHA:317
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Dystonia 23
Torticollis, Gait disturbance, Myoclonus, Head tremor, Arrhythmia OMIM:614860
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Leopard Syndrome 3
Curly hair, Short stature, Epidermal hyperkeratosis, Low posterior hairline, Growth delay, Hyperk... OMIM:613707
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,... ORPHA:36386
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
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
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Tarp Syndrome
Broad-based gait, Extramedullary hematopoiesis, Apnea, Abnormal hair pattern, Cryptorchidism, Tet... ORPHA:2886
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Hypergonadotropic hypogonadism, Respiratory insufficiency due to ... ORPHA:352447
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrh... OMIM:266500
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Short stature, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Mal... OMIM:618625
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Asthma, Spastic tetraplegia, Growth delay, Hyperkeratosis, Death in childhood, Congenital nonbull... OMIM:614457
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Short stature, Camptodactyly OMIM:618453
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Costello Syndrome
Failure to thrive in infancy, Ventricular septal defect, Short stature, Abnormal hair morphology,... ORPHA:3071
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Postnatal growth retardation, Flexion contractur... OMIM:616733
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Chronic rhinitis due to n... OMIM:259710
Dk1-Cdg
Short stature, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Inter... ORPHA:91131
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia ORPHA:85447
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Chorea, Aplasia... ORPHA:3099
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, Cardiomyopathy, Gai... OMIM:609286
Maternally-Inherited Diabetes And Deafness
Ataxia, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:225
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp, Ataxia OMIM:136300
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:612840
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... ORPHA:231222
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Joint contracture, Gait disturbance, Muscular dystrophy, Generalized a... OMIM:616516
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Ca... OMIM:602390
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Respiratory distress, Small ... ORPHA:26793
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Ataxia, Cachexia, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhyth... ORPHA:42
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricula... ORPHA:75249
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Ataxia, Hypospadias, Tremor, Cryptorchidism, Respiratory insufficiency... OMIM:614052
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp... ORPHA:79395
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Arterial rupture, Myopathy, Follicular hyperkeratosis ORPHA:300179
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Death in infancy, Hypoplasia of penis, Small scrotum, Cardiac arrest, Cryptorchidism, Growth dela... ORPHA:168593
Sjögren-Larsson Syndrome
Short stature, Abnormal pyramidal sign, Spastic diplegia, Hyperkeratosis, Ichthyosis, Spasticity ORPHA:816
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Ulerythema Ophryogenesis
Hyperkeratotic papule, Miscarriage, Follicular hyperkeratosis, Sparse lateral eyebrow ORPHA:3406
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Low anterio... ORPHA:363705
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus... OMIM:614576
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Splenomegaly, Dyspnea, Vacuolated lymphocytes, Increased muscle lipid content, A... ORPHA:565612
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... ORPHA:1055
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Death in infancy, Death... ORPHA:682
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Rhabdomyolysis, ... ORPHA:746
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia OMIM:310095
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma ORPHA:498359
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Short stature, Mitral valve prolapse, P... ORPHA:228410
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa... ORPHA:254892
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Failure to thrive, Extramedullary hematopoiesis ORPHA:79303
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Hemochromatosis, Type 1
Alopecia, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart failure, Splenomegaly, Te... OMIM:235200
Noonan Syndrome 10
Atrial septal defect, Curly hair, Ventricular septal defect, Short stature, Sparse eyebrow, Crypt... OMIM:616564
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Short statur... ORPHA:324
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Trichothiodystrophy 1, Photosensitive
Death in infancy, Brittle hair, Small for gestational age, Short stature, Trichoschisis, Asthma, ... OMIM:601675
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Donohue Syndrome
Skeletal muscle atrophy, Postnatal growth retardation, Precocious puberty, Long penis, Acanthosis... OMIM:246200
Sialidosis Type 1
Skeletal muscle atrophy, Short stature, Ataxia, Tremor, Splenomegaly, Slurred speech, Hyperkerato... ORPHA:812
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Patchy alopecia OMIM:247100
Lymphatic Malformation 12
Neonatal respiratory distress, Death in adolescence, Hydrocele testis, Hyperkeratosis, Neonatal d... OMIM:620014
Keratoderma Hereditarium Mutilans
Alopecia, Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, I... ORPHA:494
Hydrops Fetalis
Small for gestational age, Miscarriage, Pericardial effusion, Capillary leak, Abnormal heart morp... ORPHA:1041
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Kearns-Sayre Syndrome
Sideroblastic anemia, Short stature, Ataxia, Ragged-red muscle fibers, Cardiomyopathy, Third degr... OMIM:530000
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, External genital hypoplasia, Hypergranulosis, Paralysis, Abnormal hair morphology, Grow... OMIM:242100
Noonan Syndrome 2
Curly hair, Mitral stenosis, Ventricular septal defect, Short stature, Sparse eyebrow, Cryptorchi... OMIM:605275
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Isolated Atp Synthase Deficiency
Respiratory distress, Short stature, Ataxia, Dilated cardiomyopathy, Spastic paraplegia, Tetraple... ORPHA:254913
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... ORPHA:57777
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Tetraplegia/tetraparesis, Rigidity, Sparse eyebrow, Unsteady gait, P... ORPHA:2269
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Fucosidosis
Decreased muscle mass, Cardiomegaly, Abnormal pyramidal sign, Spastic tetraplegia, Spasticity, Fa... ORPHA:349
Singleton-Merten Syndrome 2
Short stature, Aortic valve calcification, Hyperkeratosis, Arrhythmia, Aortic valve stenosis OMIM:616298
Syndromic Recessive X-Linked Ichthyosis
Short stature, Cryptorchidism, Acute leukemia, Hyperkeratosis, Hypogonadism, Ichthyosis, Testicul... ORPHA:281090
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... OMIM:619208
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Hemolytic anemia, Viral infection-induced... ORPHA:57
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Distal sensory impairment, Gait disturbance, Arrhyt... ORPHA:99944
Werner Syndrome
Skeletal muscle atrophy, Sparse scalp hair, Telangiectasia of the skin, Short stature, Myocardial... ORPHA:902
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Dysesthesia, Congestive heart failure, Tetraplegia, Abnormal tendon ... ORPHA:85446
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Acquired Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis ORPHA:454
Chilblain Lupus
Raynaud phenomenon, Hyperkeratosis, Asthma, Chronic myelomonocytic leukemia ORPHA:90280
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Atrophoderma Vermiculata
Heart block, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Howell-Jolly bodies, Nonproductive cough, Abnormal car... ORPHA:85443
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Allergic rhinitis, Absent facial h... ORPHA:90368
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia ORPHA:871
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Right ... ORPHA:422
Ogden Syndrome
Torticollis, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Fine hair, ... ORPHA:276432
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension, Ataxia ORPHA:3222
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Ramon Syndrome
Hyperkeratosis, Failure to thrive, Telangiectasia of the skin, Generalized hirsutism ORPHA:3019
Subaortic Stenosis-Short Stature Syndrome
Short stature, Obesity, Membranous subvalvular aortic stenosis, Respiratory insufficiency, Subval... ORPHA:3191
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Acantholysis, Multiple muscular ventricular septal defects, Growth delay, Palmop... OMIM:615508
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Spinocerebellar Ataxia 34
Ataxia, Epidermal hyperkeratosis, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochok... OMIM:133190
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Resp... OMIM:609015
Bathing Suit Ichthyosis
Parakeratosis, Multiple joint contractures, Alopecia, Impaired temperature sensation, Thickened s... ORPHA:100976
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Truncal obesity, Gait disturbance, Arrhythmia ORPHA:2928
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Ataxia, Flexion contracture, Hyperkeratosis, Hypertonia, Failure to thrive OMIM:609180
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Weight loss, Pleural effusion,... ORPHA:188
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Alopecia, Flexion contracture, Palmoplantar hyperkeratosis, Congenital ichthyosifo... OMIM:242300
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent duc... ORPHA:2847
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Hyperkeratosis, Icht... OMIM:618527
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Hyperkeratosis, Ichthyosis, Spasticity, Failure to thrive, Hypertrichosis OMIM:612379
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Flexion contracture, Periorificial hyperkeratosis, Hyper... OMIM:614594
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Intercos... ORPHA:258
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratode... ORPHA:312
Noonan Syndrome 5
Curly hair, Short stature, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair, ... OMIM:611553
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Small for gestational age, Ataxia, Hypospadias, Type 2 muscle fiber pred... OMIM:615471
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Bazex Syndrome
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Acanthosis... ORPHA:166113
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Alopecia, Short stature, Flexion contracture, Hyperkeratosis, Congenital ichthyosi... OMIM:308050
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Camptodactyly of finger, Hyperkeratosis, Coarse hair, Joint contract... ORPHA:1883
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... OMIM:300918
Cardiofaciocutaneous Syndrome
Brittle hair, Abnormal heart valve morphology, Failure to thrive in infancy, Short stature, Slow-... ORPHA:1340
Hec Syndrome
Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia ORPHA:2119
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617571
Proteus Syndrome
Splenomegaly, Hyperkeratosis OMIM:176920
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Acute rhabdomyolysis, Cardiac arrest, Clonus, Premature thelarche, Rhabdomyolysis, Ventri... OMIM:616878
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Ataxia, Cardiac conduction abnormality, Apnea, Tremor, Ri... ORPHA:2131
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Patent foramen ovale, Telangiectases of the cheek... ORPHA:576
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Small for gestational age, Diastasis recti, Large for gestational age,... ORPHA:254534
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Harlequin Ichthyosis
Sudden cardiac death, Respiratory insufficiency, Hyperkeratosis, Congenital ichthyosiform erythro... ORPHA:457
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia, Anemia OMIM:606069
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Inability to walk, Rhabdomyo... ORPHA:26791
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Recessive X-Linked Ichthyosis
Cryptorchidism, Hyperkeratosis, Ichthyosis ORPHA:461
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Sudden cardiac death, Hemiplegia/hemiparesis, Arrhythmia, Hypertrophic c... ORPHA:156
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Curly hair, Sparse scalp hair, Ventricular septal defect, Short stature, La... OMIM:607721
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Spontaneous Periodic Hypothermia
Ataxia, Tremor, Gait disturbance, Arrhythmia, Abnormal pattern of respiration ORPHA:29822
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Pleural effusion, Bra... ORPHA:330001
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Prolon... ORPHA:542306
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Head titubation, Gait ataxia, Truncal ataxia, Arrhythmia, Frequent falls, Inten... OMIM:620208
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism,... ORPHA:254346
Classic Mycosis Fungoides
Splenomegaly, Hyperkeratosis, Alopecia, Abnormal lymphocyte morphology ORPHA:2584
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... OMIM:148700
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Short stature, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Telangi... OMIM:604173
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Short stature, Highly arched eyebrow, Obesity, Subvalvular aortic stenosis, A... OMIM:600430
Typhoid
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegaly, Hypertonia,... ORPHA:99745
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Hypoesthesia, Impaired pain sensation OMIM:615632
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Short stature, Abnormal p... ORPHA:500
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Pneumonia, Recurrent pneumonia, Cor pulmonale, Melena, Coarse hair, Nail ... OMIM:158310
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Allergic rhinitis, Brittle scalp hair, Sparse eye... OMIM:256500
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... ORPHA:275766
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... ORPHA:464453
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegaly, Congesti... ORPHA:465508
Legionnaires Disease
Pericarditis, Ataxia, Myocarditis, Splenomegaly, Endocarditis, Respiratory insufficiency, Restric... ORPHA:549
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Short stature, Slow-growing hair, Absent eyelashes, Splenomegaly, Ocu... OMIM:115150
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Hepatosplenomegaly, Periodic hypokalemic paresis, An... OMIM:259730
Leprechaunism
Facial hypertrichosis, Skeletal muscle atrophy, Enlarged ovaries, Overgrowth of external genitali... ORPHA:508
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Hyperkeratosis, Abnormal vagina morphology, Cough ORPHA:1334
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Sparse hair, Sparse body hair OMIM:224750
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect... ORPHA:93672
Ectodermal Dysplasia/Short Stature Syndrome
Short stature, Asthma, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy OMIM:616029
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... OMIM:615745
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Ataxia, Mildly reduced left ventricular ejection fraction, Dysmetria, Arrhythmia OMIM:618098
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Dyspnea, Microangiopathic hemolytic anemia, Arrhythmia, T... ORPHA:54057
Pachyonychia Congenita
Respiratory distress, Alopecia, Linear arrays of macular hyperkeratoses in flexural areas, Palmop... ORPHA:2309
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Thrombocytopenia, Cryptorch... OMIM:617052
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong... OMIM:602400
American Trypanosomiasis
Myocarditis, Congestive heart failure, Splenomegaly, Dyspnea, Cardiomyopathy, Cough, Arrhythmia ORPHA:3386
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Arrhythmia, Mitral valve prolapse ORPHA:230839
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Nail dystrophy ORPHA:89843
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Short stature, Ca... ORPHA:3220
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Epistaxis, Thickened skin, Dyspnea, Weight... ORPHA:79430
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Neonatal asphyxia, Asthma, Generalized ichthyosis, Follicular hyperkeratosis, ... OMIM:608649
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus, Follicular hyperkeratosis OMIM:615147
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Rhabdomyolysis, Ventricular tachycardia, Respiratory insufficiency, Cardio... ORPHA:159
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Flexion contracture, Knee flexion contracture, Death in childhood, Atrial septal defect, Sparse h... OMIM:210710
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Rhabdomyolysis, Myopathy, Cardiomyopathy, Arrhythmia ORPHA:228305
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis OMIM:607936
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bac... ORPHA:97214
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Pulmonary Arteriovenous Malformation
Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murmur, Telang... ORPHA:2038
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital... OMIM:607602
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hirsutism, Clitoral hypertrophy, Hepatosplenomegaly ORPHA:313855
Scorpion Envenomation
Bundle branch block, Tremor, Tachypnea, Prominent U wave, Hemifacial spasm, Ataxia, ST segment de... ORPHA:466677
Pagod Syndrome
Death in infancy, Short stature, Sudden cardiac death, Congenital diaphragmatic hernia, Situs inv... ORPHA:991
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Short stature, Cryptorch... ORPHA:3138
Giant Cell Arteritis
Pericarditis, Alopecia, Ataxia, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Cerebra... ORPHA:397
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Kleefstra Syndrome
Hypoplasia of penis, Ventricular septal defect, Bicuspid aortic valve, Short stature, Hypospadias... ORPHA:261494
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... ORPHA:79151
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Ataxia, Neutropenia OMIM:616949
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short stature, Synophrys, Perimembranous ventricular septal defect, Transposition of the great ar... OMIM:617877
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Palmoplantar hyperkeratosis, Growth... OMIM:617388
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Hypospadias, Postnatal growth retardation, Tracheobronchomalacia, Atrial septal def... OMIM:619184
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti OMIM:607903
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Cardiomegaly, Dilated cardiomyopathy, Elb... OMIM:608836
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Atrial septal defect, Alopecia, Hypospadias, Precocio... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Atrial septal defect, Alopecia, Hypospadias, Precocio... ORPHA:363958
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Hyperkeratosis, Sparse hair, Abnormal morphology of female internal genitalia ORPHA:1839
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis OMIM:613943
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Ichthyosis... ORPHA:1005
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Incontinentia Pigmenti
Alopecia, Telangiectasia of the skin, Camptodactyly of finger, Short stature, Eosinophilia, Super... ORPHA:464
Acrokeratoelastoidosis Of Costa
Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosis, Hyperkeratotic papule ORPHA:38
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Short stature, Hyperkeratosis, Intrauterine growth retardation ORPHA:163966
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Ventricular sep... ORPHA:79329
Lamellar Ichthyosis
Short stature, Hyperkeratosis, Ichthyosis, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p... ORPHA:70591
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardi... OMIM:300855
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Follicular hyperkerato... ORPHA:1809
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Chronic rhini... OMIM:615225
Lymphatic Malformation 4
Hydrocele testis, Hyperkeratosis OMIM:615907
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Hyperkeratosis, Aplasia/Hypoplasia of the e... ORPHA:238468
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Atrichia, Death in childhood, Neonatal death, Atrial septal defect, Dyst... OMIM:308205
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Wheezing, Weight loss, Hypovolemic sho... ORPHA:171876
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Alopecia, Short stature,... ORPHA:79474
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Incoordination, Ataxia, Acute rhabdomyolysis, Clonus, Involu... ORPHA:480864
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis OMIM:615023
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Congenital diaphragmatic hernia, Epispadias, Abnormal fallopian tube morpho... ORPHA:2556
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Short stature, Ataxia, Thicken... ORPHA:910
Acute Radiation Syndrome
Telangiectasia, Hyperkeratosis, Interstitial pneumonitis, Granulocytopenia, Hypotension, Lymphope... ORPHA:454831
Reactive Arthritis
Aortic regurgitation, Pericarditis, Respiratory insufficiency, Weight loss, Hyperkeratosis, Dystr... ORPHA:29207
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... OMIM:606545
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Microcytic anemia, Flexion contracture, Premature graying ... OMIM:256040
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Somatic sensory dysfunction, Ataxia, Neonatal respiratory distress, High... OMIM:615510
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Cardiomegaly OMIM:255120
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Hypo... OMIM:309801
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Neutrophilia, Failure to thrive in infancy, Splenomegaly, Hyperkeratosis OMIM:612852
Agel Amyloidosis
Ataxia, Facial palsy, Cardiomyopathy, Abnormal spleen morphology, Nail dystrophy, Sparse hair, Ar... ORPHA:85448
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Incontinentia Pigmenti
Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Retinal hemorrhage, Fi... OMIM:308300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Absent pubic hair, Knee ... OMIM:148210
Colchicine Poisoning
Respiratory distress, Alopecia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia,... ORPHA:31824
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis OMIM:133200
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Short stature, Pneumonia, Thickened skin, Re... ORPHA:2135
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respiratory fai... ORPHA:542323
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Arrhyt... ORPHA:99845
De Sanctis-Cacchione Syndrome
Parakeratosis, Severe short stature, Ataxia, Bilateral cryptorchidism, Babinski sign, Scissor gai... OMIM:278800
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Hyperkeratosis, Frontal upswee... OMIM:301220
Leprosy
Skeletal muscle atrophy, Absent eyebrow, Alopecia, Epistaxis, Impaired temperature sensation, Dys... ORPHA:548
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Absent eyebrow, Short stature, Trichiasis, Hyperkeratosis, Camptodactyly... OMIM:601701
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Parakeratosis, Severe B lymphocytopenia, Postnatal growth retardation, Cont... ORPHA:83617
Dowling-Degos Disease
Hyperkeratosis, Hyperkeratotic papule, Scrotal hyperpigmentation, Penile freckling ORPHA:79145
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Apnea, Low anterior hairline, Hypertonia, Wrist flexion contracture, Gen... ORPHA:800
Leber Optic Atrophy
Postural tremor, Myopathy, Arrhythmia, Ataxia OMIM:535000
Heart-Hand Syndrome Type 2
Cryptorchidism, Arrhythmia, Low posterior hairline ORPHA:1350
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Follicular hyper... OMIM:616295
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Hypospadias, External genital hypoplasia, Ovotestis, Orthokeratotic hyperke... OMIM:610644
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Splen... OMIM:607626
Lipoid Proteinosis
Hyperkeratosis, Thickened skin, Alopecia of scalp ORPHA:530
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis OMIM:620148
Prolidase Deficiency
Splenomegaly, Low anterior hairline, Hyperkeratosis, Palmoplantar keratoderma, White forelock, Ge... ORPHA:742
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... ORPHA:79280
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dyst... OMIM:308800
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Tyrosinemia Type 2
Tremor, Hyperkeratosis, Palmoplantar keratoderma, Ataxia ORPHA:28378
Chime Syndrome
Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Fine hair, Hyperkeratosis, Transp... ORPHA:3474
Dermatomyositis
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin,... ORPHA:221
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Left bundle branch block, Arrhythmia, Limb muscle weakness, Failure to thrive, Vent... OMIM:610131
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Ventricular septal defect, Camptodactyly of finger, Ataxia, Slow-growin... ORPHA:2710
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula... OMIM:613102
Psoriasis 2
Hyperkeratosis, Parakeratosis OMIM:602723
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Thickened skin, Palmoplantar hyperkeratosis, Hyperkeratosis, Spars... OMIM:601812
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Short stature,... ORPHA:536545
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Iron deficiency a... ORPHA:100078
Localized Scleroderma
Skeletal muscle atrophy, Raynaud phenomenon, Thickened skin, Flexion contracture, Vasculitis, Abn... ORPHA:90289
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia, Short stature ORPHA:2238
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Congestive heart failure, Vascul... ORPHA:727
Lichen Planopilaris
Hyperkeratosis, Alopecia ORPHA:525
Costello Syndrome
Curly hair, Ventricular septal defect, Short stature, Rhabdomyosarcoma, Tracheomalacia, Achilles ... OMIM:218040
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans ORPHA:409
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Lymphatic Filariasis
Orchitis, Wheezing, Epididymitis, Hypereosinophilia, Vaginal hydrocele, Hydrocele testis, Hyperke... ORPHA:2035
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Rhabdomyolysis, Myopathy, Cardiomyopathy, Arrhythmia ORPHA:157
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Odontoonychodermal Dysplasia
Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Short nail, Hypergranulosis, Sparse eyebrow,... OMIM:257980
Vulvovaginal Gingival Syndrome
Abnormality of female external genitalia, Parakeratosis ORPHA:83453
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Exercise-induced rhabdomyolysis, Parakeratosis ORPHA:284426
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Hyperkeratosis, Short stature, Fine hair ORPHA:1806
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Low anterior hairline, Short stature, Camptodactyly of finger ORPHA:3201
Kid Syndrome
Sparse eyelashes, Postnatal growth retardation, Scarring alopecia of scalp, Sparse eyebrow, Knee ... ORPHA:477
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Holoprosencephaly
Hypoplasia of penis, Ventricular septal defect, Failure to thrive in infancy, Abnormal pulmonary ... ORPHA:2162
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Upper limb muscle weakness, Cardiomyopathy, Abnormal left ven... ORPHA:892
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Fine hair ORPHA:1028
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e... OMIM:137940
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O... OMIM:617337
Neuroleptic Malignant Syndrome
Tachycardia, Extrapyramidal muscular rigidity, Pulmonary embolism, Tremor, Thrombocytopenia, Leuk... ORPHA:94093
Noonan Syndrome
Abnormal hair quantity, Short stature, Abnormal pulmonary valve morphology, Hypogonadotropic hypo... ORPHA:648
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Disproportionate short stature, Atrioventricular block, Respiratory insufficiency, C... ORPHA:93317
Restrictive Dermopathy 1
Limb joint contracture, Hypospadias, Sparse eyelashes, Epidermal hyperkeratosis, Absent eyelashes... OMIM:275210
Chromomycosis
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule ORPHA:182
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium mor... ORPHA:228308
Familial Multiple Nevi Flammei
Pulmonary embolism, Intracranial hemorrhage, Hemiparesis, Hemiplegia, Arrhythmia ORPHA:624
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hyperkeratosis with erythema, Moderate postnatal growth retardation, Knee flexio... OMIM:118650
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Splenomegaly... ORPHA:580
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Skeletal muscle atrophy, Tricuspid regurgitation, Patent ductus arteriosus, Myopat... OMIM:614557
Oculodentodigital Dysplasia
Dry hair, Ataxia, Slow-growing hair, Paraparesis, Spasticity, Fine hair, Joint contracture of the... OMIM:164200
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Abnormal EKG, Alopecia, Abnormal central motor ... ORPHA:3385
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Sh... ORPHA:217085
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis ORPHA:158681
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Sh... ORPHA:217093
Cockayne Syndrome B
Dry hair, Severe short stature, Small for gestational age, Ataxia, Postnatal growth retardation, ... OMIM:133540
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
Pachyonychia Congenita 1
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Hypoplasia... ORPHA:906
6Q Terminal Deletion Syndrome
Hypospadias, Highly arched eyebrow, Phimosis, Low anterior hairline, Obesity, Dysmetria, Gait ata... ORPHA:75857
Lichen Planus Pemphigoides
Hyperkeratosis ORPHA:254478
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Yellow nails, Patent ductus arteriosus, Distichiasis, Chylothorax, Arr... OMIM:153400
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Raynaud phenomenon, Precocious puberty, Cryptorchidism, Hemiparesis, Patchy alo... ORPHA:2874
Restrictive Dermopathy
Multiple joint contractures, Hypospadias, Camptodactyly of finger, Dextrocardia, Epidermal hyperk... ORPHA:1662
Cockayne Syndrome A
Hip contracture, Dry hair, Short stature, Ataxia, Tremor, Splenomegaly, Cryptorchidism, Micropeni... OMIM:216400
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Short stature, Ataxia, Enlarged polycystic ovar... ORPHA:201
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Short stature, Camptodactyly of finger, Impaired pain sensation, Intraut... ORPHA:261211
Botulism
Arrhythmia, Cerebral palsy, Respiratory insufficiency, Diaphragmatic paralysis ORPHA:1267
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Arrhythmia, Hypogonadism, Hypoplastic nipples OMIM:273400
Ectodermal Dysplasia-Skin Fragility Syndrome
Short stature, Recurrent pneumonia, Palmoplantar keratoderma, Anoperineal fistula, Difficulty wal... ORPHA:158668
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism ORPHA:79431
Psoriasis 14, Pustular
Leukocytosis, Parakeratosis, Neutrophilia, Nail dystrophy OMIM:614204
Milroy Disease
Hydrocele testis, Hyperkeratosis ORPHA:79452
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Increased body weight ORPHA:64745
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Splenomegaly, Abnormal pyramidal s... ORPHA:163746
Leptospirosis
Respiratory distress, Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal ... ORPHA:509
Punctate Palmoplantar Keratoderma Type 1
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Prostate cancer, Nail dys... ORPHA:79501
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Sinusitis, Ataxia, Facial palsy, Pneumonia, Hemiparesis, Arrhythmia, Increas... ORPHA:68
Ramon Syndrome
Short stature, Enlarged labia minora, Telangiectasia, Hyperkeratosis, Decreased body weight, Hype... OMIM:266270
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Eec Syndrome
Short stature, Hypospadias, Slow-growing hair, Sparse eyebrow, Fine hair, Hyperkeratosis, Coarse ... ORPHA:1896
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Failure to thrive, Cerebral ischemia ORPHA:60040
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Vasculitis in the skin ORPHA:163525
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Lyme Disease
Arrhythmia, Paresthesia, Atrioventricular block ORPHA:91546
Kawasaki Disease
Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Myocarditis, Congestive... ORPHA:2331
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Cough, Emphysema, Hemol... ORPHA:797
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Highly arched eyebrow, Cryptorchidism, Patent ductus arteriosus, Widow... ORPHA:1519
Mycetoma
Painless fractures due to injury, Cobblestone-like hyperkeratosis, Paraplegia ORPHA:2583
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Cervix cancer, Hyperkeratosis, Embryonal rhabdomyosarcoma OMIM:620189
Ulnar-Mammary Syndrome
Small scrotum, Ventricular septal defect, Sparse axillary hair, Elbow flexion contracture, Obesit... OMIM:181450
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Severe short stature, Camptodactyly of finger, Abnormal eyelash morphol... ORPHA:2273
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Phimosis, Flexion contracture, Hyperkeratosis, Palmoplantar keratoderma,... ORPHA:2908
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Hypogonadotropic hypogonadism, Sparse eyelashes, Sparse axillary hair, Sparse ... OMIM:604292
Autosomal Dominant Hypocalcemia
Alopecia, Congestive heart failure, Paresthesia, Hypotension, Arrhythmia, Abnormal pattern of res... ORPHA:428
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Hypogonadotropic hypogonadism, Sparse eyelashes, Sparse axillary hair, Sparse ... OMIM:129900
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia, Anemia ORPHA:139411
Ivic Syndrome
Severe short stature, Leukocytosis, Rectovaginal fistula, Arrhythmia, Thrombocytopenia ORPHA:2307
Proteus Syndrome
Decreased muscle mass, Thymus hyperplasia, Sudden cardiac death, Cachexia, Pulmonary embolism, Th... ORPHA:744
Plague
Respiratory distress, Tachycardia, Hematemesis, Splenomegaly, Unsteady gait, Slurred speech, Endo... ORPHA:707
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Tricuspid regurgitation, Abnormality of hair texture, Thickened skin, Synophrys... ORPHA:73223
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Orchitis, Splenomegaly, Vasculitis, Arrhythmia ORPHA:342
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... OMIM:225400
Pachyonychia Congenita 3
Plantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Palm... OMIM:615726
Meige Disease
Pleural effusion, Cobblestone-like hyperkeratosis ORPHA:90186
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Atrial septal defect, Neonatal respiratory distress, Hypospadias... OMIM:312870
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Dyspnea, Tendon xanthomatosis, Hear... ORPHA:391665
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Death in infancy, Limb tremor, Intrauterine growth retardation OMIM:616647
Stickler Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Hemiplegia/hemiparesis, Mitral valve prolapse, ... ORPHA:828
Familial Keratoacanthoma
Hyperkeratosis ORPHA:493
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Arrhythmia, Distichiasis ORPHA:33001
Kanzaki Disease
Telangiectasia of the oral mucosa, Lip telangiectasia, Distal sensory impairment, Lacunar stroke,... OMIM:609242
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia, Short stature OMIM:171480
Warburg-Cinotti Syndrome
Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Follicular hyperkeratosis, Fl... OMIM:618175
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelia, Myocarditis, Disproportionate short stature, Atrial septal defect, Arrhythmia OMIM:250220
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma, Hyperparakeratosis, Telangiectasia of the skin ORPHA:276280
Hypermobile Ehlers-Danlos Syndrome
Apnea, Aplasia/Hypoplasia of the abdominal wall musculature, Cystocele, Paresthesia, Arrhythmia, ... ORPHA:285
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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