Not currently registered for phenotyping at IMPC

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

Gene Summary

inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
2010016I08Rik,  Itp

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

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

Disease Similarity of
Matching phenotypes Source
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Babinski sign, Distal lower limb muscle weakness, Difficulty walking, Lower limb spasticity, Supr... ORPHA:320360
Naxos Disease
Nail dystrophy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Abnormal h... OMIM:601214
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Syncope, Woolly hair, Ventricular arrhythmia, Palmoplantar kera... OMIM:610476
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... OMIM:181350
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Patent ductus arteriosus, Increased mean corpuscular volume, Extramedullary hematopoiesis... OMIM:617021
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Hemiplegia, Mobitz I atrioventricular blo... ORPHA:1344
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Death in... OMIM:612158
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Short stature, Growth delay, Generalized hirsutism ORPHA:2812
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Severely reduced left ventricular ejection fraction, Calf muscle hypert... OMIM:611705
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp... OMIM:300696
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Increased mitochondrial numbe... ORPHA:263297
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoies... OMIM:615285
Anonychia With Flexural Pigmentation
Macular telangiectasia, Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Follicular h... ORPHA:69125
Insulin-Resistance Syndrome Type A
Delayed puberty, Hyperkeratosis, Generalized hirsutism ORPHA:2297
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Abnormal hair morphology, Palmoplantar hyperkeratosis OMIM:617756
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, Congestive heart failure, Prolonged QT interval, Hypospadias, Nonco... OMIM:610198
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Congestive heart failure, Death in childhood, Hypertrophic cardiomy... OMIM:615440
Dominant Beta-Thalassemia
Delayed puberty, Hypochromic microcytic anemia, Hypoplasia of the musculature, Decreased mean cor... ORPHA:231226
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Cardiomyopathy, Scapular winging, Increased variability in muscle fiber diame... OMIM:612999
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Flexion contracture ORPHA:79503
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Neonatal Lupus Erythematosus
Aplastic anemia, Parakeratosis, Heart block, Anemia, Prolonged QT interval, Pancytopenia, Hyperke... ORPHA:398124
Noonan Syndrome 8
Large for gestational age, Patent ductus arteriosus, Hyperkeratosis, Ventricular septal defect, H... OMIM:615355
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Epidermolytic Palmoplantar Keratoderma
Impaired temperature sensation, Diffuse palmoplantar hyperkeratosis, Impaired tactile sensation, ... ORPHA:2199
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Beta-Thalassemia Major
Anisopoikilocytosis, Delayed puberty, Hypochromic microcytic anemia, Hypoplasia of the musculatur... ORPHA:231214
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Paresthesia, Abnormality of extrapyramidal motor function, Hyperkeratosis, Spasticity, Hypertroph... ORPHA:79279
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Anemia, Reticulocytosis, Pericar... ORPHA:846
Hereditary Spherocytosis
Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Restri... ORPHA:822
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ataxia, Arrhythmia, Ventricular preexcitation, Myopathy, Postural tremor ORPHA:104
Thickened skin, Hyperkeratosis ORPHA:1659
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Nathalie Syndrome
Short stature, Arrhythmia ORPHA:2663
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Moynahan Syndrome
Cachexia, Hyperkeratosis, Short stature, Hypogonadism, Sparse hair, Alopecia ORPHA:2574
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Failure to thrive, Sh... OMIM:615279
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Naxos Disease
Congestive heart failure, Acanthosis nigricans, Paroxysmal ventricular tachycardia, Abnormality o... ORPHA:34217
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Congenital bullous ichthyosiform erythroderma, Sparse hair, Palmoplantar keratoderm... OMIM:613576
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Arrhythmia, Intrauterin... OMIM:616198
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Ichthyosis, Leukonychia, Nail dystrophy, Hyperkeratosis, Syncope, Woolly hair, Pal... OMIM:615821
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:98855
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:98853
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Failure to thrive, Hyperkeratosis, Dystrophic toenail, Palmoplantar hyperkeratosis ORPHA:89838
X-Linked Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:98863
Gaucher Disease, Perinatal Lethal
Ichthyosis, Anemia, Akinesia, Respiratory distress, Hyperkeratosis, Decreased body weight, Neonat... OMIM:608013
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Cryptorchidism, Short stature, Sideroblastic anemia, Thro... OMIM:249270
Primary Myelofibrosis
Anemia, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leukocytosis, Portal hypertension, ... ORPHA:824
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Inability to walk, Increased variability in muscle fiber diameter, Centrally ... OMIM:617066
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Cachexia, Gait disturbance, Death in infancy, Skeletal muscle atrophy, ... ORPHA:157973
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph... OMIM:115197
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Symmetrical Thalamic Calcifications
Hypertonia, Spasticity, Failure to thrive, Ataxia, Arrhythmia ORPHA:1314
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Hyperkeratosis, Sclerodactyly, Camptodactyly of finger, Palmoplantar hyperkeratos... OMIM:212360
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Syncope, Woolly hair, Ventricular arrhythmia, Ventricular tachy... OMIM:611528
Infantile Refsum Disease
Ichthyosis, Spasticity, Facial palsy, Cardiomyopathy, Short stature, Failure to thrive, Ataxia, A... ORPHA:772
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hypertonia, Anemia, Hypochromic microcytic anemia, Limb hypertonia, Pancytopenia, Fac... OMIM:259720
Bethlem Muscular Dystrophy
Wrist flexion contracture, Limb-girdle muscle weakness, Quadriceps muscle weakness, Difficulty wa... ORPHA:610
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Large for gestational age, Reduced le... ORPHA:45452
Dystonia 23
Torticollis, Gait disturbance, Head tremor, Arrhythmia, Myoclonus OMIM:614860
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Hypertrophic cardiomyopathy, Gait disturbance, Hemiplegia... ORPHA:96
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, Multiple joint contractures, EMG: myopathic abnormalities, Limb muscle weakness,... ORPHA:486815
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Leopard Syndrome 3
Abnormal aortic valve morphology, Hyperkeratosis, Low posterior hairline, Curly hair, Short statu... OMIM:613707
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... 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
Abnormal hair morphology, Hyperkeratosis, Abnormal testis morphology, Short stature, Patchy palmo... ORPHA:317
Barth Syndrome
Congestive heart failure, Neutropenia, Hypochromic microcytic anemia, Hypertrophic cardiomyopathy... OMIM:302060
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block, Abnormal cardiac septum morphology ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Refsum Disease, Classic
Congestive heart failure, Ichthyosis, Cardiomyopathy, Limb muscle weakness, Ataxia, Arrhythmia, C... OMIM:266500
Tarp Syndrome
Athetoid cerebral palsy, Broad-based gait, Cryptorchidism, Failure to thrive, Apnea, Thick eyebro... ORPHA:2886
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Absent eyelashes, Hyperkeratosis, Absent eyebrow, Short stature, Sparse hair, Mal... OMIM:618625
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Congenital Disorder Of Glycosylation, Type Im
Ichthyosis, Bradycardia, Hyperkeratosis, Tetraplegia, Death in infancy, Sparse eyelashes, Failure... OMIM:610768
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Camptodactyly, Arrhythmia OMIM:618453
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Respiratory distress, Hypertension, Flexion contracture, Left ventr... OMIM:616733
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Costello Syndrome
Acanthosis nigricans, Abnormal hair morphology, Hyperkeratosis, Ventricular septal defect, Hypert... ORPHA:3071
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Congestive heart failure, Ichthyosis, Short stature, Failure to thrive, Cardiomyocyte hypertrophy... ORPHA:91131
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Hypopigmentation of hair, Absent pubic hair, Cobblestone-like hyperkeratosis, Spa... ORPHA:189
Attrv30M Amyloidosis
Cardiomyopathy, Atrioventricular block, Weight loss, Arrhythmia, Cardiomegaly ORPHA:85447
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Abnormal aortic valve morphology, Hypospadias, Hypertrophic cardiomyopa... ORPHA:1194
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Gait disturb... OMIM:609286
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Ataxia, Alopecia OMIM:136300
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Muscular Dystrophy, Duchenne Type
Tip-toe gait, Muscular dystrophy, Congestive heart failure, Calf muscle pseudohypertrophy, Calf m... OMIM:310200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Hereditary Sensory And Autonomic Neuropathy Type 1
Steppage gait, Distal sensory impairment, Gait imbalance, Trophic changes related to pain, Impair... ORPHA:36386
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Hemochromatosis, Type 2A
Congestive heart failure, Azoospermia, Cardiomyopathy, Splenomegaly, Arrhythmia, Dilated cardiomy... OMIM:602390
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Gait disturbance, Generalized amyotrophy, Joint co... OMIM:616516
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Nail dystrophy, Generalized ichthyosis, Hyperkeratosis, Congenital nonbullous icht... ORPHA:79395
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Facial paralysis, Extramedullary hema... OMIM:259710
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Palmar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Plantar hyperkeratosis ORPHA:79399
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Epistaxis, Extramedullary hematopoiesis OMIM:612840
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Ichthyosis, Death in childhood, Limb hypertonia, Hyperkeratosis, Growth delay, Congenital nonbull... OMIM:614457
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Respiratory distress, Patent foramen ovale, Tachypne... ORPHA:26793
Beta-Thalassemia Intermedia
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Pulmonary arterial hy... ORPHA:231222
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy, Arterial rupture, Follicular hyperkeratosis ORPHA:300179
Sjögren-Larsson Syndrome
Ichthyosis, Hyperkeratosis, Spasticity, Short stature, Abnormal pyramidal sign, Spastic diplegia ORPHA:816
Ulerythema Ophryogenesis
Sparse lateral eyebrow, Hyperkeratotic papule, Miscarriage, Follicular hyperkeratosis ORPHA:3406
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis OMIM:617526
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... OMIM:254090
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Hyperkeratosis, Death in infancy, Growth delay, Failure to thrive, Thrombocytopenia... OMIM:614576
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Facial palsy, Hypergonadotropic hypogonadism, Generalized amyotrophy, P... OMIM:615084
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc... ORPHA:732
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Hypergonadotropic hypogonadism, General... ORPHA:352447
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Apnea, Arrhyth... ORPHA:1055
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis ORPHA:498359
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi... ORPHA:228410
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Difficulty walking, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle ... OMIM:616812
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Failure to thrive, Extramedullary hematopoiesis ORPHA:79303
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Congenital nonbullou... OMIM:620150
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Cardiomegaly, Bicuspid aortic valve, Sacral h... ORPHA:363705
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous icht... OMIM:615024
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis, Patchy alopecia OMIM:247100
Rheumatic Fever
Myocarditis, Hemiballismus, Abnormal aortic valve morphology, Fasciculations, Abnormal heart valv... ORPHA:3099
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Ataxia, Distal arthrogryposis, Skeletal muscle atrophy, Arrhythmia, Cardiomegaly, Myopathy ORPHA:42
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Donohue Syndrome
Postnatal growth retardation, Clitoral hypertrophy, Severe failure to thrive, Acanthosis nigrican... OMIM:246200
Sialidosis Type 1
Hyperkeratosis, Tremor, Gait disturbance, Short stature, Ataxia, Splenomegaly, Skeletal muscle at... ORPHA:812
Keratoderma Hereditarium Mutilans
Ichthyosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hypogonadotropic hypogonadism,... ORPHA:494
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Generalized hyperkeratosis, Spasticity, Failure to thrive, Decreased muscle mass, Abnormal pyrami... ORPHA:349
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Splenomegaly, Prolonged QRS ... ORPHA:75565
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, External genital hypoplasia, Paralysis, Abnormal hair morphology, Hyper... OMIM:242100
Isolated Atp Synthase Deficiency
Respiratory distress, Tetraplegia, Hypertrophic cardiomyopathy, Spastic paraplegia, Short stature... ORPHA:254913
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Scarring alopecia of scalp, Hyperkeratosis, Absent eyelashes, Cobblestone-like hyperk... OMIM:602540
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Death in childhood, Hypospadias, Hypertension, Tremor, Hypertrophic cardiomyopathy, Intention tre... OMIM:614052
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Cardiomyopathy, Short stature, Sideroblastic anemia, Ataxia, Arrhythmia... OMIM:530000
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Congestive heart... ORPHA:57777
Singleton-Merten Syndrome 2
Hyperkeratosis, Aortic valve calcification, Aortic valve stenosis, Short stature, Arrhythmia OMIM:616298
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Flexion contracture of digit, Hyperkeratosis, Woolly hair... OMIM:619208
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Growth delay, Skeletal myopathy, Muscle fiber atrophy, Exercise-ind... ORPHA:57
Atrophoderma Vermiculata
Hyperkeratotic papule, Heart block, Follicular hyperkeratosis ORPHA:79100
Acquired Ichthyosis
Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis ORPHA:454
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Distal sensory impairment, Gait disturbance, Hand muscle atrophy, Skeletal muscle atrophy, Arrhyt... ORPHA:99944
Bathing Suit Ichthyosis
Parakeratosis, Ichthyosis, Nail dystrophy, Impaired temperature sensation, Thickened skin, Congen... ORPHA:100976
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnorm... ORPHA:85446
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Acantholysis, Multiple muscular ventricular septal defects, Pulmonic stenosis, Failur... OMIM:615508
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Woolly h... OMIM:610193
Hemochromatosis, Type 1
Congestive heart failure, Azoospermia, Cardiomyopathy, Splenomegaly, Arrhythmia, Cardiomegaly, Hy... OMIM:235200
Werner Syndrome
Premature graying of hair, Congestive heart failure, Myocardial infarction, Aplasia/Hypoplasia of... ORPHA:902
Congenital Syphilis
Myocarditis, Anemia, Thrombocytopenia, Hepatosplenomegaly, Intrauterine growth retardation, Extra... ORPHA:499009
Partial Atrioventricular Septal Defect
Atrial flutter, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Angina pectoris, B... ORPHA:1330
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Hyperkeratosis, Tiger tail banding, Trichosch... OMIM:601675
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Patent ductus arteriosus, Atrial fibri... ORPHA:1880
Noonan Syndrome 10
Patent ductus arteriosus, Hyperkeratosis, Ventricular septal defect, Hypertrophic cardiomyopathy,... OMIM:616564
Ramon Syndrome
Failure to thrive, Hyperkeratosis, Generalized hirsutism, Telangiectasia of the skin ORPHA:3019
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Ichthyosis, Hyperkeratosis, Testicular seminoma, Short stature, Hypogonadism, Cry... ORPHA:281090
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Abnormal hair morphology, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sp... ORPHA:1808
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Gait ataxia, Rigidity, Ataxia, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:254892
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Vohwinkel Syndrome, Variant Form
Parakeratosis, Abnormal hair morphology, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, H... OMIM:604117
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Ataxia, Arrhythmia ORPHA:3222
Spinocerebellar Ataxia 34
Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Gait ataxia, Intention tremor, Ataxi... OMIM:133190
Ogden Syndrome
Postnatal growth retardation, Hypertonia, Torticollis, Ventricular septal defect, Shuffling gait,... ORPHA:276432
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Ichthyosis, Nail dystrophy, Congenital nonbullous ichthyosiform erythroderma, Flex... OMIM:242300
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Postnatal growth retardation, Atrial fibrillation, Supraventricular arrh... ORPHA:75249
Congenital Disorder Of Glycosylation, Type If
Hypertonia, Hyperkeratosis, Death in infancy, Failure to thrive, Ataxia, Flexion contracture OMIM:609180
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Short stature, Camptodactyly of finger, Arrhythmia, Truncal obesity ORPHA:2928
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Parakeratosis, Ichthyosis, Acanthosis nigricans, Hyperkeratosis, Tremor, Spasticit... OMIM:618527
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyperkeratoses in flexural ar... OMIM:601952
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Spasticity, Hyperkeratosis, Failure to thrive, Microcytic anemia, Hypertrichosis OMIM:612379
Hydrops Fetalis
Capillary leak, Miscarriage, Pericardial effusion, Abnormal heart morphology, Arrhythmia, Small f... ORPHA:1041
Hyperkalemic Periodic Paralysis
Congestive heart failure, Hypertonia, Periodic hyperkalemic paralysis, Death in early adulthood, ... ORPHA:682
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Weight loss, Palmoplan... ORPHA:312
Olmsted Syndrome 1
Parakeratosis, Nail dystrophy, Hyperparakeratosis, Periorificial hyperkeratosis, Flexion contract... OMIM:614594
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Bazex Syndrome
Parakeratosis, Nail dystrophy, Acanthosis nigricans, Anemia, Yellow nails, Hyperkeratosis, Palmop... ORPHA:166113
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypospadias, Type 2 muscle fiber predominance, Hypertrophic cardiomyopathy, Growth delay, Failure... OMIM:615471
Cole Disease
Abnormal hair morphology, Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Punctate pal... OMIM:615522
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Cardiac arrest, Myoclonus, Death in infancy, Growth delay, Arrhythmia, Small... ORPHA:168593
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Joint contracture of the 5th finger, Hyperkeratosis, Short stature, Camptodactyly o... ORPHA:1883
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Alopecia totalis, Palmoplantar hyperkera... OMIM:300918
Fabry Disease
Delayed puberty, Hypertension, Left ventricular hypertrophy, Acroparesthesia, Hyperkeratosis, Tra... ORPHA:324
Fabry Disease
Delayed puberty, Congestive heart failure, Ventricular septal hypertrophy, Anemia, Angina pectori... OMIM:301500
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Congestive heart failure, Babinski sign, Cardiomyopathy, Tricuspid regurgitation, F... ORPHA:746
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Parakeratosis, Single ventricle, Alopecia, Hyperkeratosis, Short stature, Flexion con... OMIM:308050
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617571
Noonan Syndrome 5
Large for gestational age, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Short stat... OMIM:611553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Cardiofaciocutaneous Syndrome
Dystrophic fingernails, Ichthyosis, Sparse or absent eyelashes, Brittle hair, Slow-growing hair, ... ORPHA:1340
Proteus Syndrome
Hyperkeratosis, Splenomegaly OMIM:176920
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Premature pubarche, Prolonged QTc interval, Cardiac arrest, Hypertrophic ca... OMIM:616878
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Brittle hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, F... OMIM:618546
Ichthyosis With Erythrokeratoderma
Parakeratosis, Palmoplantar keratoderma, Leukonychia, Diffuse palmoplantar hyperkeratosis, Hyperk... OMIM:620507
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large for gestational age, Diastasis recti, Abnormal heart morpholo... ORPHA:254534
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Hyperkeratosis, Sparse scalp hair, Short stature, Fine hair, Pili torti ORPHA:1573
Alternating Hemiplegia Of Childhood
Paroxysmal dyskinesia, Oculomotor apraxia, Facial hypotonia, Respiratory distress, Chorea, Tremor... ORPHA:2131
Hemochromatosis, Type 4
Cardiomyopathy, Anemia, Arrhythmia OMIM:606069
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Poor fine motor coordination, Ventricular... ORPHA:542306
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Hemiplegia/hemiparesis, Skeletal muscle atrophy, Arrhythmia, Sudden ... ORPHA:156
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Nail dystrophy, Yellow nails, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each... OMIM:148700
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Chilblain Lupus
Hyperkeratosis, Raynaud phenomenon, Chronic myelomonocytic leukemia ORPHA:90280
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, Respiratory distress, ST segment elevation, Cardiomyopathy... OMIM:261740
Classic Mycosis Fungoides
Hyperkeratosis, Abnormal lymphocyte morphology, Splenomegaly, Alopecia ORPHA:2584
Lymphatic Malformation 12
Hyperkeratosis, Neonatal death, Death in adolescence, Hydrocele testis OMIM:620014
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, Intention tremor, Head titubation,... OMIM:620208
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, Ichthyosis, Loose anagen hair, Aortic regurgitation, Hyperkeratosis, S... OMIM:607721
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Cryptorchidism ORPHA:461
19P13.12 Microdeletion Syndrome
Hypospadias, Aortic regurgitation, Ventricular septal defect, Arthrogryposis multiplex congenita,... ORPHA:254346
Neuropathy, Hereditary Sensory, Type If
Impaired pain sensation, Hyperkeratosis, Hypoesthesia OMIM:615632
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Short stature, Obesity, Pain insensitivity, Arrhythmia, Subvalvular aortic... OMIM:600430
Al Amyloidosis
Gastrointestinal hemorrhage, Anemia, Abnormal cardiac ventricle morphology, Monoclonal light chai... ORPHA:85443
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Short stature, Obesity, Arrhythmia, Subvalvular aortic st... ORPHA:3191
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Arrhythmia, Abnormal hair morphology OMIM:618531
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart failure, Rimmed vacuoles, Ca... ORPHA:565612
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Alopecia of scalp, Generalized hyperkeratosis, Absent pubic hair, Generalized ichthyosis, Sparse ... ORPHA:2269
Noonan Syndrome 2
Cardiomyopathy, Low posterior hairline, Pulmonic stenosis, Mitral valve prolapse, Bicuspid aortic... OMIM:605275
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Myocardial infarction, Atrioventricular canal defect, Hypospadia... ORPHA:500
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal cardiac vent... ORPHA:1677
Splenomegaly, Extramedullary hematopoiesis, Myeloproliferative disorder, Hemophagocytosis OMIM:254450
Cardiofaciocutaneous Syndrome 1
Hypertonia, Ichthyosis, Oculomotor apraxia, Slow-growing hair, Hyperkeratosis, Absent eyelashes, ... OMIM:115150
Postnatal growth retardation, Clitoral hypertrophy, Acanthosis nigricans, Long penis, Facial hype... ORPHA:508
Osteopetrosis, Autosomal Recessive 3
Anemia, Short stature, Periodic hypokalemic paresis, Hepatosplenomegaly, Extramedullary hematopoi... OMIM:259730
Acrokeratosis Verruciformis Of Hopf
Nail dystrophy, Leukonychia, Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis ORPHA:79151
Poikiloderma With Neutropenia
Nail dystrophy, Hyperkeratosis, Low posterior hairline, Sparse lateral eyebrow, Short stature, Sp... OMIM:604173
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Elevated jugular venous pressure, Cardiomyopathy, Portal hypertension, ... ORPHA:465508
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia ORPHA:230839
Schopf-Schulz-Passarge Syndrome
Nail dystrophy, Hyperkeratosis, Sparse body hair, Sparse hair, Palmoplantar keratoderma OMIM:224750
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Hyperkeratosis, Curly hair, Sparse eyelashes, Sparse body hair, Sp... OMIM:602400
Pachyonychia Congenita
Nail dystrophy, Palmoplantar keratoderma, Respiratory distress, Alopecia, Linear arrays of macula... ORPHA:2309
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Nail dystrophy ORPHA:89843
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Mildly reduced left ventricular ejection fraction, Ataxia, Arrhythmia, Dysmetria OMIM:618098
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of nail color, High anterior hairline, External genital hypoplasia, Ichthyosis, Acant... ORPHA:3220
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Failure to thrive, Rhabdomyolysis, Arrhythmia, Small for gestational ag... OMIM:609015
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Parakeratosis, Alopecia of scalp, Hyperkeratosis, Sparse scalp hair, Fin... ORPHA:90368
Bone Marrow Failure Syndrome 3
Aplastic anemia, Nail dystrophy, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean cor... OMIM:617052
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Patchy alopecia, Abnormal eyebrow m... ORPHA:573
Palmoplantar Keratoderma And Congenital Alopecia 1
Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Palmoplantar keratoderma, Epidermal hyper... OMIM:104100
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus, Follicular hyperkeratosis OMIM:615147
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Myopathy ORPHA:228305
Harlequin Ichthyosis
Congenital ichthyosiform erythroderma, Hyperkeratosis, Ichthyosis, Sudden cardiac death ORPHA:457
Peeling Skin Syndrome 4
Nail dystrophy, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:607936
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Fgfr2-Related Bent Bone Dysplasia
Clitoral hypertrophy, Extramedullary hematopoiesis, Hepatosplenomegaly, Hirsutism ORPHA:313855
Erythrokeratodermia Variabilis Et Progressiva 3
Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:617525
Ichthyosis, Annular Epidermolytic, 1
Ichthyosis, Hyperparakeratosis, Abnormal hair morphology, Congenital bullous ichthyosiform erythr... OMIM:607602
Gastrointestinal hemorrhage, Hypertonia, Tremor, Cardiac arrest, Epistaxis, Splenomegaly, Ataxia,... ORPHA:99745
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:612281
Hec Syndrome
Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy, Vaginal hydrocele ORPHA:2119
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance, Arrhythmia ORPHA:29822
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Synophrys, Pulmoni... OMIM:617877
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Scorpion Envenomation
Myocarditis, Congestive heart failure, Hyperkinetic movements, Prominent U wave, Hypertension, My... ORPHA:466677
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Sparse hair, Fine hair, Abnormal morphology of female internal genitalia, Alopecia ORPHA:1839
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal testis morphology, Death in inf... ORPHA:991
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To... ORPHA:90647
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti, Follicular hyperkeratosis OMIM:607903
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Ataxia, Neutropenia OMIM:616949
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Growth delay, Failure to thrive, Splenom... OMIM:617388
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Cardiomyopathy, Hypotension, Rhabdomyolysis, Arrhythmia, Ventricular tachy... ORPHA:159
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the pectoralis major muscle, Hypoplasia of penis, Breast aplasia, Hyp... ORPHA:3138
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Ichthyosis, Orthokeratosis, Hypergranulosis OMIM:613943
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Dysplastic aortic valve, Tricuspid r... OMIM:620067
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Hyperkeratosis, Cardiomyopathy, Long eyela... ORPHA:79430
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Inability to walk, Cardiomyopathy, Scapular winging, Rhabdomyolysis, Ab... ORPHA:26791
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension, Death in infancy, Sparse hair, Intrauterine growth retardation, Fine hair, Muscular... OMIM:210710
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Ichthyosis, Hyperkeratosis, Severe short stature, Sparse hair, Intrauterine growth retardation, M... ORPHA:1005
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Inability to walk, Reduced left ventricular ejection fraction, Myositis, Card... ORPHA:258
Acquired Methemoglobinemia
Tachycardia, Respiratory distress, Arrhythmia, Syncope, Palpitations, Methemoglobinemia ORPHA:464453
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Leukocytosis, Pericarditis, Weight loss, Arrhythmia ORPHA:188
Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteriosus, Respiratory... ORPHA:79329
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis, Granulomatosis ORPHA:38
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Hyperkeratosis, Abnormal vagina morphology ORPHA:1334
Mucoepithelial Dysplasia, Hereditary
Nail dystrophy, Corneal neovascularization, Melena, Alopecia, Sparse hair, Eosinophilia, Cor pulm... OMIM:158310
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hyperkeratosis, Death in infancy, Short stature, Intrauterine growth retardation ORPHA:163966
Lamellar Ichthyosis
Ichthyosis, Hyperkeratosis, Short stature, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Hyperkeratosis, Nail dystrophy, Short stature OMIM:616029
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Failure to thrive, Hyperkeratosis, Death in childhood OMIM:301108
Pityriasis Rubra Pilaris
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:173200
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... OMIM:613102
Netherton Syndrome
Parakeratosis, Brittle hair, Sparse scalp hair, Failure to thrive, Brittle scalp hair, Congenital... OMIM:256500
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Ichthyosis, Hypospadias, Testicular neoplasm, Hyperkeratosis, Ventr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Ichthyosis, Hypospadias, Testicular neoplasm, Hyperkeratosis, Ventr... ORPHA:363958
Incontinentia Pigmenti
Congestive heart failure, Abnormal hair morphology, Hyperkeratosis, Dystrophic toenail, Spasticit... ORPHA:464
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia, Myocardial infa... ORPHA:54057
Hidrotic Ectodermal Dysplasia, Halal Type
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Trichodysplasia, Supernume... ORPHA:1809
Giant Cell Arteritis
Paresthesia, Vasculitis, Cerebral ischemia, Double outlet right ventricle with subpulmonary ventr... ORPHA:397
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Hypospadias, Brittle hair, Patent foramen ovale, Arrhythmia, Intrau... OMIM:619184
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Eisenmenger Syndrome
Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef... ORPHA:97214
Atrial Standstill 2
Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Acute rhabdomyolysis, Babinski sign, Hypertonia, Prolonged QT interval, Abnormality of extrapyram... ORPHA:480864
Legionnaires Disease
Myocarditis, Hypotension, Pericarditis, Arrhythmia, Ataxia, Splenomegaly, Lymphopenia, Endocarditis ORPHA:549
Ichthyosis, Congenital, Autosomal Recessive 9
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hypergranulosis OMIM:615023
Porokeratosis 3, Multiple Types
Parakeratosis, Nail dystrophy, Porokeratosis OMIM:175900
Acrokeratosis Verruciformis
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholysis, Acrokeratosis OMIM:101900
Kleefstra Syndrome
Supernumerary nipple, Hypospadias, Hypoplasia of penis, Highly arched eyebrow, Ventricular septal... ORPHA:261494
Juvenile Dermatomyositis
Calcinosis, Gastrointestinal hemorrhage, Myositis, Vasculitis, Angina pectoris, Cardiomyopathy, P... ORPHA:93672
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythro... OMIM:606545
Atypical Werner Syndrome
Premature graying of hair, Delayed puberty, Calf muscle hypertrophy, Hypertension, Aortic valve s... ORPHA:79474
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hyperkeratosis, Neutrophilia, Splenomegaly, Failure to thrive in infancy OMIM:612852
Lymphatic Malformation 4
Hyperkeratosis, Hydrocele testis OMIM:615907
Perifollicular hyperkeratosis, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse ... OMIM:158000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Elbow flexion contracture, Death in infancy, Arrhythmia, Apne... OMIM:608836
Ogden Syndrome
Left atrial enlargement, Premature ventricular contraction, Cardiomegaly, Bicuspid aortic valve, ... OMIM:300855
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Nail dystrophy, Ichthyosis, Absent pubic hair, Hyperkeratosis, Elbow flexion contract... OMIM:148210
Agel Amyloidosis
Nail dystrophy, Facial palsy, Cardiomyopathy, Abnormal spleen morphology, Arrhythmia, Ataxia, Spa... ORPHA:85448
Xeroderma Pigmentosum
Abnormality of extrapyramidal motor function, Hyperkeratosis, Spasticity, Thickened skin, Decreas... ORPHA:910
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Splenomegaly, Arrhythmia ORPHA:3386
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Clitoral hypertrophy, Hypospadias, Ovotestis, Histiocytoid cardi... OMIM:309801
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Incontinentia Pigmenti
Breast hypoplasia, Nail dystrophy, Breast aplasia, Hyperkeratosis, Hypoplastic nipples, Spasticit... OMIM:308300
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Orthok... OMIM:604777
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Difficulty walking, Myositis... ORPHA:99845
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Flexion contracture of toe, Death in adolescence, Flexion contracture ... OMIM:256040
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Clitoral hypertrophy, Severe short stature, Mitral valve prolaps... ORPHA:2556
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Hyperkeratosis, Camptodactyly, Absent eyebrow, Short stature, Skeletal muscle atrophy... OMIM:601701
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Nail dystrophy, Ichthyosis follicularis, Corneal neovascularization, Hypertension, Death in infan... OMIM:308205
Leber Optic Atrophy
Postural tremor, Ataxia, Myopathy, Arrhythmia OMIM:535000
Dowling-Degos Disease
Hyperkeratosis, Penile freckling, Hyperkeratotic papule, Scrotal hyperpigmentation ORPHA:79145
De Sanctis-Cacchione Syndrome
Babinski sign, Parakeratosis, Hypertonia, Scissor gait, Spasticity, Bilateral cryptorchidism, Ata... OMIM:278800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkeratosis, Telangiectasia of the skin... ORPHA:79280
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Nail dystrophy, Corneal neovascularization, Palmoplantar keratoderma, Follicular h... OMIM:615225
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Leukonychia, Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Telangiectases o... OMIM:616295
Noonan Syndrome
Postnatal growth retardation, Coarse hair, Juvenile myelomonocytic leukemia, Patent ductus arteri... ORPHA:648
Acute Radiation Syndrome
Hyperkeratosis, Hypotension, Thrombocytopenia, Lymphopenia, Granulocytopenia, Telangiectasia ORPHA:454831
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Perimembranous ventricular septal defect, Parakeratosis, Respirator... ORPHA:83617
Prolidase Deficiency
Hyperkeratosis, Hirsutism, White forelock, Low anterior hairline, Splenomegaly, Generalized hirsu... ORPHA:742
Ichthyosis, Annular Epidermolytic, 2
Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis OMIM:620148
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Sparse eyeb... OMIM:308800
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Ichthyosis, Thick hair, Portal hypertension, Sparse eyelashes, Sparse eyebrow, Spl... OMIM:607626
Lipoid Proteinosis
Thickened skin, Hyperkeratosis, Alopecia of scalp ORPHA:530
Colchicine Poisoning
Myocarditis, Congestive heart failure, Respiratory distress, Hypotension, Leukocytosis, Hypovolem... ORPHA:31824
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... 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
Steppage gait, Loss of eyelashes, Impaired temperature sensation, Paresthesia, Hyperkeratosis, Di... ORPHA:548
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, External genital hypoplasia, Nail dystrophy, Hypospadias, Ovotestis, Sclero... OMIM:610644
Chime Syndrome
Acute leukemia, Pulmonary valve atresia, Transposition of the great arteries, Ichthyosis, Hyperke... ORPHA:3474
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Left bundle branch block, Ventricular bigeminy, Facial palsy, Limb muscle weakness, Failure to th... OMIM:610131
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis, Thickened skin, Failure to thrive, Joint contracture, Flexion contracture of fing... OMIM:601812
Heart-Hand Syndrome Type 2
Cryptorchidism, Low posterior hairline, Arrhythmia ORPHA:1350
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Oculodentodigital Dysplasia
Brittle hair, Slow-growing hair, Spasticity, Gait disturbance, Curly hair, Camptodactyly of finge... ORPHA:2710
Psoriasis 2
Hyperkeratosis, Parakeratosis OMIM:602723
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Short stature, Sparse hair, Epidermal hyperkeratosis, Fine hair OMIM:190351
Schwartz-Jampel Syndrome
Flexion contracture of toe, Cachexia, Wrist flexion contracture, Death in infancy, Abnormal eyebr... ORPHA:800
Kyphoscoliotic Ehlers-Danlos Syndrome
Difficulty walking, Dextrocardia, Subdural hemorrhage, Synophrys, Short stature, Skeletal muscle ... ORPHA:536545
Lichen Planopilaris
Hyperkeratosis, Alopecia ORPHA:525
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Ichthyosis Prematurity Syndrome
Generalized ichthyosis, Alopecia of scalp, Follicular hyperkeratosis OMIM:608649
Familial Isolated Hypoparathyroidism
Short stature, Myopathy, Arrhythmia ORPHA:2238
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Right ventricular fai... ORPHA:100078
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Odontoonychodermal Dysplasia
Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Short nail, Sparse body ... OMIM:257980
Reactive Arthritis
Dystrophic fingernails, Aortic regurgitation, Hyperkeratosis, Pericarditis, Weight loss ORPHA:29207
Hypohidrotic Ectodermal Dysplasia
Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal hair quantity, Hyperkeratosis, ... ORPHA:238468
Vulvovaginal Gingival Syndrome
Parakeratosis, Abnormal female external genitalia morphology ORPHA:83453
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Exercise-induced rhabdomyolysis, Parakeratosis ORPHA:284426
Variegate Porphyria, Childhood-Onset
Epidermal hyperkeratosis OMIM:620483
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
High anterior hairline, Orthostatic hypotension, Spasticity, Hyperkeratosis, Ataxia, Somatic sens... OMIM:615510
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Hyperkeratosis, Fine hair, Sparse hair ORPHA:1806
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans ORPHA:409
Kid Syndrome
Postnatal growth retardation, Nail dystrophy, Corneal neovascularization, Scarring alopecia of sc... ORPHA:477
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Camptodactyly of finger, Low anterior hairline, Arrhythmia ORPHA:3201
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Fine hair ORPHA:1028
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Arrhythmia OMIM:255120
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Von Hippel-Lindau Disease
Myocarditis, Distal lower limb muscle weakness, Hypertension, Cardiomyopathy, Upper limb muscle w... ORPHA:892
Hennekam-Beemer Syndrome
Hypotension, Mastocytosis, Thickened skin, Camptodactyly of finger, Failure to thrive, Short stat... ORPHA:2135
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Trichorrhexis nodosa, Nail dystrophy, Scarring alopecia of scalp, Sparse lateral eyebrow, Hypopla... OMIM:617337
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Frontal upsweep of hair, Hyperkeratosis, Failure to thrive in infancy, Broad eyebrow OMIM:301220
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule ORPHA:182
Restrictive Dermopathy 1
Stillbirth, Atrial septal defect, Hypospadias, Patent ductus arteriosus, Absent eyelashes, Sparse... OMIM:275210
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Slow-growing hair, Spasticity, Paraparesis, Ataxia, Sparse h... OMIM:164200
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Sparse hair, Knee flexion contracture, Moderate postnatal growth retardation, Hy... OMIM:118650
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Telangiectasia of extensor surfaces, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse ... OMIM:137940
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,... ORPHA:542323
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Vasculitis, Pericarditis, Epistaxis, Arrhy... ORPHA:727
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Tylosis With Esophageal Cancer
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis OMIM:148500
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Tricuspid regurgitation, Skeletal muscle atrophy, Patent ductus arteriosus, Type 1... OMIM:614557
African Trypanosomiasis
Fasciculations, Miscarriage, Pericarditis, Splenomegaly, Second degree atrioventricular block, My... ORPHA:3385
Cockayne Syndrome B
Postnatal growth retardation, Death in childhood, Severe failure to thrive, Abnormal hair morphol... OMIM:133540
Localized Scleroderma
Vasculitis, Patchy alopecia, Thickened skin, Arrhythmia, Flexion contracture, Skeletal muscle atr... ORPHA:90289
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Proportionate short stature, Weight loss, Arrhythmia, Failure to thrive in inf... ORPHA:171876
Pachyonychia Congenita 1
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
6Q Terminal Deletion Syndrome
Hypospadias, Highly arched eyebrow, Hyperkeratosis, Phimosis, Gait ataxia, Failure to thrive, Obe... ORPHA:75857
Myocarditis, Inflammatory myopathy, Myositis, Abnormal eosinophil morphology, Abnormal hair quant... ORPHA:221
Neuroleptic Malignant Syndrome
Pulmonary embolism, Bradycardia, Chorea, Extrapyramidal muscular rigidity, Hypertension, Tremor, ... ORPHA:94093
Lichen Planus Pemphigoides
Hyperkeratosis ORPHA:254478
Congenital diaphragmatic hernia, Hypoplasia of penis, Highly arched eyebrow, Chorea, Spasticity, ... ORPHA:2162
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Cockayne Syndrome A
Severe postnatal growth retardation, Hypertension, Tremor, Gait disturbance, Short stature, Failu... OMIM:216400
Cowden Syndrome
Generalized hyperkeratosis, Abnormal penis morphology, Enlarged polycystic ovaries, Short stature... ORPHA:201
Restrictive Dermopathy
Atrial septal defect, Transposition of the great arteries, Generalized hyperkeratosis, Hypospadia... ORPHA:1662
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:157
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Hyperesthesia, Patchy alopecia, Precocious puberty, Hemiparesis, Raynaud phenom... ORPHA:2874
Familial Multiple Nevi Flammei
Hemiparesis, Intracranial hemorrhage, Arrhythmia, Hemiplegia, Pulmonary embolism ORPHA:624
Oculocutaneous Albinism Type 1A
Thickened skin, Hyperkeratosis, Albinism, Hypopigmentation of hair ORPHA:79431
16P11.2P12.2 Microdeletion Syndrome
Impaired pain sensation, Tricuspid regurgitation, Short stature, Camptodactyly of finger, Arrhyth... ORPHA:261211
Psoriasis 14, Pustular
Parakeratosis, Neutrophilia, Nail dystrophy, Leukocytosis OMIM:614204
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Arrhythmia, Hypogonadism, Sparse hair OMIM:273400
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Flexion contracture of digit, Abnormal heart valve morpholog... ORPHA:580
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Increased body weight ORPHA:64745
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia, Cardiomegaly ORPHA:228308
Mucopolysaccharidosis Type 2, Severe Form
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath... ORPHA:217085
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Spasticity, Abnormal eyebrow morphology, Ata... ORPHA:163746
Punctate Palmoplantar Keratoderma Type 1
Nail dystrophy, Prostate cancer, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar... ORPHA:79501
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath... ORPHA:217093
Ramon Syndrome
Enlarged labia minora, Hyperkeratosis, Decreased body weight, Short stature, Hypertrichosis, Tela... OMIM:266270
Costello Syndrome
Rhabdomyosarcoma, Acanthosis nigricans, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosi... OMIM:218040
Milroy Disease
Hyperkeratosis, Hydrocele testis ORPHA:79452
Peeling Skin Syndrome 6
Parakeratosis, Orthokeratosis OMIM:618084
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Eec Syndrome
Nail dystrophy, Hypospadias, Slow-growing hair, Hyperkeratosis, Hypoplasia of the thymus, Short s... ORPHA:1896
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Prostatitis, Angina pectoris, Vasculitis, Hypertension, Cerebral isc... ORPHA:900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Failure to thrive, Telangiectasia of the skin, Cerebral ischemia, Arrhythmia ORPHA:60040
Subacute Cutaneous Lupus Erythematosus
Vasculitis in the skin, Hyperkeratosis ORPHA:163525
Lymphedema-Distichiasis Syndrome
Yellow nails, Patent ductus arteriosus, Distichiasis, Tetralogy of Fallot, Arrhythmia, Ventricula... OMIM:153400
Wiskott-Aldrich Syndrome
Acute leukemia, Hematemesis, Anemia, Abnormal eosinophil morphology, Vasculitis, Hypoplasia of th... ORPHA:906
Ectodermal Dysplasia-Skin Fragility Syndrome
Nail dystrophy, Difficulty walking, Anoperineal fistula, Short stature, Failure to thrive, Sparse... ORPHA:158668
Lyme Disease
Atrioventricular block, Paresthesia, Arrhythmia ORPHA:91546
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Embryonal rhabdomyosarcoma, Hyperkeratosis, Cervix cancer OMIM:620189
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis ORPHA:158681
Paraplegia, Cobblestone-like hyperkeratosis, Painless fractures due to injury ORPHA:2583
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Respiratory distress, Hypotension, Retinal hemorrhage, Pericarditis, Rhabdomyolysis, Thrombocytop... ORPHA:509
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Elbow flexion contracture, Imperforate hymen, Bicornuate uter... OMIM:181450
Foodborne Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy, Arrhythmia ORPHA:228371
Kindler Epidermolysis Bullosa
Anemia, Hyperkeratosis, Phimosis, Camptodactyly of finger, Flexion contracture, Palmoplantar kera... ORPHA:2908
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Facial palsy, Myocardial necrosis, Hemiparesis, Ataxia, Arrhythmia ORPHA:68
Specc1L-Related Hypertelorism Syndrome
Patent ductus arteriosus, Highly arched eyebrow, Ventricular septal defect, Female pseudohermaphr... ORPHA:1519
Lymphatic Filariasis
Hyperkeratosis, Abnormal scrotum morphology, Epididymitis, Orchitis, Vaginal hydrocele, Hypereosi... ORPHA:2035
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Rhizomelic arm shortening, Atrioventricular block, Arrhythmia, Disproportionate shor... ORPHA:93317
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Ichthyosis, Abnormal hair morphology, Hyperkeratosis, Abnormal eyelash morphology, Absent eyebrow... ORPHA:2273
Kawasaki Disease
Myocarditis, Abnormality of nail color, Congestive heart failure, Abnormal heart valve morphology... ORPHA:2331
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Transverse vaginal septum, Nail dystrophy, Facial hirsutism, Hyperkeratosis, Hypoplastic nipples,... OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Transverse vaginal septum, Rectovaginal fistula, Hyperkeratosis, Hypoplastic nipples, Sparse scal... OMIM:129900
Diaphragmatic paralysis, Cerebral palsy, Arrhythmia ORPHA:1267
Ivic Syndrome
Rectovaginal fistula, Leukocytosis, Severe short stature, Thrombocytopenia, Arrhythmia ORPHA:2307
Carney Triad
Gastrointestinal hemorrhage, Anemia, Leiomyosarcoma, Hypertension, Arrhythmia, Tachycardia ORPHA:139411
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Epidermal thickening, Scapular winging, Tricuspid regurgitation, Syn... ORPHA:73223
Pachyonychia Congenita 3
Nail dystrophy, Palmoplantar keratoderma, Palmar hyperkeratosis, Plantar hyperkeratosis, Follicul... OMIM:615726
Familial Mediterranean Fever
Vasculitis, Leukocytosis, Pericarditis, Splenomegaly, Orchitis, Arrhythmia, Myocardial infarction ORPHA:342
Developmental And Epileptic Encephalopathy 35
Intrauterine growth retardation, Limb tremor, Cardiomyopathy, Death in infancy OMIM:616647
Familial Keratoacanthoma
Hyperkeratosis ORPHA:493
Hematemesis, Respiratory distress, Hypotension, Unsteady gait, Splenomegaly, Arrhythmia, Tachycar... ORPHA:707
Kanzaki Disease
Distal sensory impairment, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkeratosis,... OMIM:609242
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Distichiasis, Arrhythmia