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Gene: Morf4l1 MGI:1096551

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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:
mortality factor 4 like 1
Synonyms:
TEG-189,  Tex189,  MRG15,  MORFRG15

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 Morf4l1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Morf4l1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Respiratory... OMIM:253300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... ORPHA:2302
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... OMIM:300717
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle... OMIM:618414
Fetal Encasement Syndrome
Bilateral trilobed lung, Tetralogy of Fallot, Thin skin, Congenital diaphragmatic hernia OMIM:613630
Dermoodontodysplasia
Dry skin, Thin skin OMIM:125640
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Nemaline Myopathy 8
Death in infancy, Facial palsy, Polyhydramnios, Flexion contracture, Respiratory failure, Myofibr... OMIM:615348
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crack... ORPHA:99931
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre... OMIM:619773
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Mitral valve prolapse, Atypical scarring of skin, Thin skin, Petechiae OMIM:225310
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin, Purpura ORPHA:743
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... OMIM:616081
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Aplasia/Hypoplasia of the skin, Thin skin, Pulmonary embolism ORPHA:745
Prolidase Deficiency
Hepatomegaly, Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Splenomegaly, Ery... ORPHA:742
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Hepatomegaly, Elevated hepatic transaminase, Respirat... OMIM:613561
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Acrogeria
Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:2500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Skin nodule, Flexion contracture, Hepatosplenom... ORPHA:2590
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect, Dry skin, Thin skin OMIM:617364
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... ORPHA:90117
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Camptodactyly of finger, Thin skin ORPHA:1658
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Polyhydramnios, ... OMIM:616867
Ulerythema Ophryogenesis
Miscarriage, Dry skin, Facial erythema, Hyperkeratotic papule, Dermal atrophy, Follicular hyperke... ORPHA:3406
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Skin dimple, Thin skin, Intrauterine growth retardation, Oligohydramnios ORPHA:261304
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Abnormality of skeletal muscle fiber ... ORPHA:2348
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin ORPHA:455
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema, Splenomega... ORPHA:3226
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Aplasia/Hypoplasia of the skin, Splenomegaly, Abnorm... ORPHA:79083
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Abnormality of the liver, Respiratory failure ORPHA:132
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Palmoplantar hyperkeratosis, Erythematous plaque, Thin skin, Dermal atrophy, Milia ORPHA:158673
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... OMIM:614399
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy OMIM:613869
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Petechiae, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ... OMIM:620296
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Splenomegaly, Dyspnea, Localized skin lesion... ORPHA:3386
Rheumatic Fever
Macule, Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morp... ORPHA:3099
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Thin skin OMIM:259410
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Dyspnea, Splenomegaly, Pallor, Anemia ORPHA:75563
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... ORPHA:244
Dermoodontodysplasia
Dry skin, Thin skin, Melanocytic nevus ORPHA:1660
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Facial diplegia, Card... ORPHA:171433
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Flexion contracture, Cutis laxa, Atypical scarring of skin, Atrophic sca... ORPHA:75496
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Familial Cervical Artery Dissection
Facial palsy, Striae distensae, Thin skin ORPHA:36382
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade... OMIM:609981
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, P... ORPHA:163596
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure, Ascites ORPHA:890
Congenital Heart Block
Crackles, Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Endocardial fibroelast... ORPHA:60041
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, EMG: myopathic abnormalities, Respiratory failure, Nocturnal hypoventi... OMIM:620326
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Edema, Polyhydramnios, Flex... ORPHA:98905
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Congenital contracture, Polyhydramnios, Respiratory failure OMIM:225753
Arthrogryposis Multiplex Congenita 6
Death in infancy, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal death, Increa... OMIM:619334
Porokeratosis Of Mibelli
Hyperkeratosis, Aplasia/Hypoplasia of the skin ORPHA:735
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers, Polyhydramnios OMIM:616794
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema... OMIM:613490
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture... OMIM:603689
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p... OMIM:619057
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren... OMIM:608647
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Thin skin, Mitral valve prolapse OMIM:225320
Silver-Russell Syndrome 2
Intrauterine growth retardation, Thin skin OMIM:618905
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Acute Peripheral Arterial Occlusion
Leukocytosis, Limb muscle weakness, Pallor ORPHA:90064
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus... ORPHA:555874
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect, Thin skin, Aplasia cutis congenita, ... ORPHA:217346
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Hypertrophic cardiomyopathy OMIM:616277
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Thin skin, Thenar muscle atrophy ORPHA:157965
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased vari... OMIM:618654
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Reduced vital capacity, Orthopnea, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Limb muscle weakness, Respiratory failure OMIM:600561
Scedosporiosis
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Subcutaneous nodule, Abno... ORPHA:449280
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Facial diplegia, Respi... OMIM:611890
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:1832
Snakebite Envenomation
Epistaxis, Edema, Localized skin lesion, Rhabdomyolysis, Erythema, Angioedema, Respiratory failur... ORPHA:449285
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula... OMIM:619386
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Erythema, Periauricular skin pits, Atrophic scars, Skin pit, Fol... ORPHA:79100
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea,... ORPHA:178320
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Thin skin ORPHA:98892
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Death in infancy, Camptodactyly of finger, Abnormal pulmonary valve morphology, Fle... ORPHA:1194
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... OMIM:266200
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Elevated circulating as... OMIM:245400
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Thenar muscle atrophy, Cigarette-paper scars, Thin skin, Webbed neck, Jo... OMIM:612350
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Death in infancy, Aplasia/Hypoplasia of the skin, Progressive flexion co... ORPHA:2028
Avian Influenza
Respiratory distress, Elevated hepatic transaminase, Miscarriage, Pneumonia, Productive cough, No... ORPHA:454836
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Pulmonary hypoplasia, Death in childhood, Neonatal death, Increas... OMIM:614096
Dermatitis, Atopic
Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin OMIM:603165
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Pneumothorax, T... ORPHA:36238
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Death in infancy, Bone-marrow foam cells, Polyhydram... OMIM:607625
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Lymphadenitis, Leukocytosis... OMIM:615895
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Reduced forced vital capacity, Achilles ... OMIM:620249
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Dyspnea, Bro... OMIM:612387
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Thin skin, Mitral valve prolapse ORPHA:230839
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... OMIM:615234
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Pseudoprogeria Syndrome
Thin skin ORPHA:2985
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Boutonneuse Fever
Elevated hepatic transaminase, Macule, Petechiae, Cervical lymphadenopathy, Skin nodule, Lymphade... ORPHA:83313
Cutis Laxa, Autosomal Recessive, Type Iiia
Intrauterine growth retardation, Distal amyotrophy, Thin skin, Cutis laxa OMIM:219150
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... ORPHA:824
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Peripheral Cone Dystrophy
Pallor OMIM:609021
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Death in infancy, Polyhydramnios, Cardiomyopathy, Respiratory failure, Myopathy, St... OMIM:614922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Thin skin ORPHA:1810
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Macule, Cardiomegaly, Jaundice, Lymphadenopathy, Ane... ORPHA:858
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Focal Dermal Hypoplasia
Acute hepatic failure, Macule, Aplasia/Hypoplasia of the skin, Ventricular septal defect, Camptod... ORPHA:2092
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Triosephosphate Isomerase Deficiency
Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Respiratory dist... OMIM:615512
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... ORPHA:308552
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin ORPHA:1899
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripartum Cardiomyopathy
Orthopnea, Left atrial enlargement, Crackles, Myocarditis, Dyspnea, Dilated cardiomyopathy, Asthm... ORPHA:563
Hyperekplexia 4
Respiratory failure, Flexion contracture, Distal arthrogryposis, Camptodactyly OMIM:618011
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure OMIM:618637
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Edema of the dorsum of hands, Flexion cont... ORPHA:171430
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:610978
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Dyspnea, Mitral valve prolapse, Atrophic scars, Thin skin, Atria... ORPHA:230851
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respirat... OMIM:614299
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Asthma, Wheezing, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis,... OMIM:620233
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... ORPHA:1959
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Arterial Tortuosity Syndrome
Respiratory distress, Redundant skin, Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopa... ORPHA:3342
De Barsy Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Ventricular septal defect, Cutis laxa,... ORPHA:2962
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... OMIM:618278
Cutis Laxa, Autosomal Recessive, Type Iiib
Flexion contracture, Elbow flexion contracture, Cutis laxa, Excessive wrinkled skin, Thin skin, I... OMIM:614438
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Edema, Facial erythema, Thin skin, Ecchymosis, Striae distensae, Purpura OMIM:219090
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Aplasia/Hypoplasia of the skin, Pancreatitis, Splenomegaly, Proximal upper limb mus... ORPHA:280365
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Thin skin, C... OMIM:617602
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture OMIM:313420
Optic Atrophy 1
Pallor OMIM:165500
Osteogenesis Imperfecta, Type Ii
Nonimmune hydrops fetalis, Thin skin, Respiratory insufficiency OMIM:166210
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Respir... OMIM:601559
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Respiratory failure, Decreased liver function, Hypertrophic cardiomyop... ORPHA:70472
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor... ORPHA:2357
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule ORPHA:89843
Multiple Mitochondrial Dysfunctions Syndrome 3
Polyhydramnios, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenit... OMIM:615330
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Multiple joint contractures, Repeated pneumothoraces, Atelecta... ORPHA:536467
Recon Progeroid Syndrome
Skeletal muscle atrophy, Anemia, Scaling skin, Thin skin, Dry skin, Thrombocytopenia OMIM:620370
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Tachypnea, Ventil... OMIM:604320
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Hyperkeratosis lenticularis perstans ORPHA:409
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonar... ORPHA:3260
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Xerostomia, Hyperkeratosis, Thin skin, Cough, Dry skin ORPHA:238468
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Striae distensae, Thin skin OMIM:610475
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Aplasia cutis congenita, Flexion contracture, Polyhydramnios OMIM:612138
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Hypersensitivity pneumonitis, Atelectasis, Leukocytosis, Hypereosinophilia, Nonproducti... ORPHA:2902
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pa... ORPHA:276575
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomyopathy, Ragged-red mus... ORPHA:352447
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Abnormality of skeletal muscle f... OMIM:620278
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Megaloblastic anemia, Pallor, Atrial septal defect, Thrombocytopenia ORPHA:49827
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Pallor, Hepatomegaly ORPHA:276556
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat... ORPHA:70
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Nephronophthisis 2
Situs inversus totalis, Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia, Enl... OMIM:602088
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Polyhydramnios, Flexion contracture, Respiratory insufficiency, Facial di... OMIM:618186
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Exertional dyspnea ORPHA:90037
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Hypoplasia of the musculatu... ORPHA:231214
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Thin skin, Striae distensae OMIM:219080
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophils, Periorbital edema, Spleno... ORPHA:33226
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... OMIM:310200
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Redundant skin, Congenital diaphragmatic hernia, Flexion contrac... ORPHA:171719
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Pallor, Hepatomegaly ORPHA:276580
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor ORPHA:56425
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Death in infancy, Apn... OMIM:608836
Sepsis In Premature Infants
Hepatomegaly, Petechiae, Abnormal mucociliary clearance, Edema, Splenomegaly, Leukocytosis, Jaund... ORPHA:90051
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Cutis laxa, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Huriez Syndrome
Aplasia/Hypoplasia of the skin, Dry skin, Lack of skin elasticity, Palmoplantar keratoderma ORPHA:384
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Pedal edema, Bacteria... ORPHA:615
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Myopathy, Respiratory failure, Cirrhosis, Hepatic steatosis ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Respiratory failure, Death in infancy, Intrauterine growth retardation OMIM:610678
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Bone marrow hypocellularity, Pulmonary fibrosis, Thin skin, Intrauterine growth retardati... OMIM:612199
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Flexion cont... OMIM:208050
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Ragged-red muscle... OMIM:600462
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Pulmonar... ORPHA:70588
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Lack of skin elasticity, Atypical scarring o... ORPHA:1366
Short Syndrome
Intrauterine growth retardation, Premature skin wrinkling, Thin skin OMIM:269880
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Alg1-Cdg
Cardiomyopathy, Respiratory failure, Decreased liver function, Abnormal heart morphology ORPHA:79327
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Thin skin, Palpebral edema OMIM:607823
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra... ORPHA:258
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency, Abnormal heart morphology OMIM:276950
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Rha... OMIM:609015
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Preauricular pit, Ventricular septal defect, Polyhydramnios, Thin skin, Pulmonic stenosis, Webbed... OMIM:617506
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Polyhydramnio... OMIM:618291
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Irida Syndrome
Hyperkeratosis, Intrahepatic cholestasis, Pallor ORPHA:209981
Premature Aging Syndrome, Penttinen Type
Skin nodule, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratosis, Thin skin, Derma... OMIM:601812
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abnormal heart valve morpho... ORPHA:536471
Malignant Atrophic Papulosis
Abnormal pericardium morphology, Peritonitis, Respiratory failure, Dermal atrophy, Abnormal myoca... ORPHA:679
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Aplasia cutis congenita, Mi... ORPHA:79402
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Hydrops fetalis, Pericardial constriction, Nevus... OMIM:253250
Spontaneous Periodic Hypothermia
Pallor, Abnormal pattern of respiration ORPHA:29822
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor, Exertion... ORPHA:90033
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Purpura, Apnea, Petechiae, Polyhydramnios, Cardiomegaly, Noni... OMIM:608013
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Death in child... OMIM:269920
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Thin skin, Limb muscle weakness OMIM:112250
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure ORPHA:2759
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Increased hepatocellular lipid droplets, Respiratory insuffic... OMIM:220110
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertrophic card... ORPHA:444013
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Acantholysis, Cardiomyopathy, Respiratory failure, Camptodactyly of toe, Intrauteri... ORPHA:158687
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan... ORPHA:26791
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Strid... OMIM:606071
Restrictive Dermopathy 1
Limb joint contracture, Polyhydramnios, Epidermal hyperkeratosis, Skin erosion, Flexion contractu... OMIM:275210
Letterer-Siwe Disease
Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fiber... OMIM:300219
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Recurrent pneumonia, Respiratory insufficiency, Excessive wrinkled skin, Thin skin, Molluscoid ps... OMIM:225400
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Elevated hepatic transaminase, Intrahepatic choles... ORPHA:333
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor OMIM:611590
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... OMIM:256000
Acrofacial Dysostosis Syndrome Of Rodriguez
Thin skin OMIM:201170
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Dry skin, Thin skin, Polyhydramnios ORPHA:1812
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... ORPHA:300298
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Bone marrow hypocellularity, Pallor, Neutropenia, Atrial septal defect... OMIM:609053
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Diffuse palmoplantar hyperkeratosis, Dermal atrophy OMIM:617294
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Congenital lary... ORPHA:2254
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, ... OMIM:619064
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Xeroderma Pigmentosum
Macule, Hypermelanotic macule, Erythema, Hypopigmented skin patches, Melanocytic nevus, Hyperkera... ORPHA:910
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dermal atrophy, Flexion contracture, Lack of skin elasticity, Thin skin ORPHA:90153
Ehlers-Danlos Syndrome, Periodontal Type, 1
Palmoplantar cutis laxa, Atrophic scars, Thin skin OMIM:130080
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Recurrent lower respiratory tract infections, Anemia OMIM:620321
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Erythema, Xerostomia, Hypopigmented skin patches, Skin ulcer, Palmoplant... ORPHA:2907
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Recurrent respiratory infections, Cholangitis, Edema, Pancreatic cysts, Congenital ... OMIM:266920
Glass Syndrome
Facial hypotonia, Apnea, Thin skin, Camptodactyly OMIM:612313
Nocardiosis
Respiratory distress, Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, Pr... ORPHA:31204
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Aplasia/Hypoplasia of the skin, Edema, Splenomegaly, Erythema, Subcutaneous nodule ORPHA:33577
Geroderma Osteodysplastica
Redundant skin, Thin skin ORPHA:2078
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Death in infancy, Redundant skin, Morgagni... OMIM:613177
Congenital Fiber-Type Disproportion Myopathy
Polyhydramnios, Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsifl... ORPHA:2020
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle ... ORPHA:365
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Intermittent hyperventilation,... ORPHA:348
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Flexion contracture, Thin skin, Camptodactyly, Intrauteri... OMIM:224690
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Cholestasis, Respiratory insufficiency, Cardiomyopathy, Skeletal myopathy, Respir... ORPHA:746
Warburg-Cinotti Syndrome
Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Erythema, Joint swelling, Thi... OMIM:618175
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Edema, Leukocytosis, Dila... ORPHA:20
Kcnq2-Related Epileptic Encephalopathy
Apnea, Pallor, Cerebral edema, Facial erythema ORPHA:439218
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Pneumothorax, Cardiomyopathy, Respiratory failure, Bone marrow hyp... ORPHA:445038
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Intrauterine growth retardation,... OMIM:614702
Adult Syndrome
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus ORPHA:978
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Lichen Planopilaris
Hypopigmented skin patches, Hepatitis, Skin ulcer, Hyperkeratosis, Dermal atrophy, Papule ORPHA:525
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Ventricular septal defect, Thin skin, Atrial septal defect, Preaur... OMIM:244450
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Thin skin, Mitral valve prolapse ORPHA:449291
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia, Death in childhood OMIM:246450
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, Facial palsy... ORPHA:1114
Pigmented Nodular Adrenocortical Disease, Primary, 1
Thin skin, Striae distensae OMIM:610489
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosi... OMIM:235200
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cafe-au-lait spot, Thin skin, Upper eyelid edema OMIM:617804
Lymphangioleiomyomatosis
Macule, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, Abnormality of the ly... ORPHA:538
Ataxia-Telangiectasia
Elevated hepatic transaminase, Skeletal muscle atrophy, Recurrent respiratory infections, Aplasia... ORPHA:100
Marshall-Smith Syndrome
Thin skin ORPHA:561
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Pallor, Poikilocytosis, Prol... OMIM:300908
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Rapp-Hodgkin Syndrome
Dry skin, Thin skin, Palmoplantar keratoderma OMIM:129400
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Adams-Oliver Syndrome 4
Atrial septal defect, Aplasia cutis congenita, Ventricular septal defect OMIM:615297
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Hydrops fetalis, Cardiomyopathy, Abnormality of the liver, Respira... ORPHA:88618
Neuraminidase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... OMIM:256550
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Respiratory distress, Pulmonary edema, Cardiomegaly, Peric... OMIM:115197
Mandibuloacral Dysplasia
Contractures of the large joints, Thin skin ORPHA:2457
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Dyspnea, Angio... ORPHA:36412
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Leukocytosis, Tachypnea, Dehydration, Pallor, Cough, Thrombocytosis ORPHA:134
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Immotile cilia, Chronic... OMIM:244400
Adams-Oliver Syndrome 5
Aplasia cutis congenita, Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlarg... OMIM:616028
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Skin tags, Redundant skin, Respiratory failure, Palmoplantar... OMIM:616482
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Thin skin ORPHA:1901
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Eryth... ORPHA:420741
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Bradypnea, Respiratory failure, Death in childhood, Skin erosion, Cerebral edema OMIM:617186
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo... ORPHA:101096
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Leukocy... OMIM:259720
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Respiratory failure, Perimembranous ventricular septal defect... OMIM:618804
Birt-Hogg-Dubé Syndrome
Skin tags, Pneumothorax, Pulmonary sequestration, Emphysema, Papule ORPHA:122
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... OMIM:600649
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Aplasia cutis congenita, Asymmetric, li... OMIM:300887
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Hepatomegaly, Death in infancy, Cardiomegaly, Tachypnea, Hepatoc... OMIM:201475
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... OMIM:557000
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Respiratory insufficiency, Anemia, Leukopenia, Respiratory failure, Pulmonary arter... OMIM:613845
Adult Syndrome
Dermal atrophy, Dry skin, Thin skin OMIM:103285
Focal Facial Dermal Dysplasia Type I
Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita ORPHA:79133
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Follicular hyperkeratosis, Cardiomegaly OMIM:613576
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Dermal atrophy, Thin skin ORPHA:90154
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmo... ORPHA:542323
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pancytopenia, Recurrent respiratory infections, Eosinophilia, Megaloblas... ORPHA:90045
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Periorbital wrinkles, Thin skin, Dry skin, Hypoplastic-absent seb... OMIM:305100
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Death in infancy, Dyspnea, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hyper... OMIM:610505
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Atypical Werner Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Aortic valve calcification, Lack of skin... ORPHA:79474
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Anemia, Death in childhood OMIM:615838
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Hypophosphatasia
Respiratory insufficiency, Skin dimple, Skin dimple over apex of long bone angulation, Emphysema,... ORPHA:436
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Tachypnea, Abnormal pulmonary i... OMIM:613658
Tooth Agenesis, Selective, 4
Dry skin, Thin skin, Palmar hyperkeratosis OMIM:150400
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Respiratory failure, Abnormality of masticatory muscle ORPHA:98755
Adams-Oliver Syndrome
Aplasia/Hypoplasia of the skin, Abnormal pulmonary valve morphology, Portal hypertension, Aplasia... ORPHA:974
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin ORPHA:1214
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Respiratory failure, Death in infancy OMIM:614862
Lujo Hemorrhagic Fever
Respiratory distress, Elevated hepatic transaminase, Generalized edema, Crackles, Facial edema, M... ORPHA:319213
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... OMIM:616897
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory insufficiency, Co... OMIM:618886
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... ORPHA:69735
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory... ORPHA:803
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Exertional dyspnea ORPHA:90036
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Facial wrinkling, Recurrent pancr... OMIM:606721
Osteogenesis Imperfecta, Type I
Thin skin, Mitral valve prolapse OMIM:166200
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... ORPHA:263455
Listeriosis
Respiratory distress, Pericarditis, Liver abscess, Miscarriage, Pneumonia, Myocarditis, Jaundice,... ORPHA:533
Metatropic Dysplasia
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... OMIM:156530
Retinitis Pigmentosa 51
Pallor OMIM:613464
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Po... ORPHA:1199
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Atypical scarring of skin, Myopathy... ORPHA:536545
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Redundant neck skin, Diastasis recti, Polyhydramnios, Flexion contracture, Macroglossia, Respirat... ORPHA:254528
Flynn-Aird Syndrome
Hyperkeratosis, Dermal atrophy OMIM:136300
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Respiratory failure, Atrial septal defect, Intrauterine growth retardatio... OMIM:620327
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin OMIM:616592
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Hepatomegaly, Death in infancy, Apnea, Splenomegaly, Ragged-red muscle f... OMIM:252010
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Bile duct prolifer... OMIM:618329
Cirrhotic Cardiomyopathy
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Jaundice, Elevated pulmonar... ORPHA:57777
Glycogen Storage Disease Ii
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Respiratory insufficiency due to mu... OMIM:232300
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Edema, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pne... OMIM:604173
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Distal amyotrophy, Flexion contracture, Respiratory failure OMIM:616505
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Facial palsy, Mitral valve prolapse, Abnormal heart morphology,... OMIM:615873
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... OMIM:618052
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Eosinophilia, Atelectasis, Skin ulcer, Cough, Skin vesicle, Papule ORPHA:2314
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Recurrent lower respiratory tract infections, Perimembranous ventricular septal ... OMIM:619170
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left ventricular hypertrophy, Left atrial... OMIM:300280
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure OMIM:617809
Dravet Syndrome
Pallor ORPHA:33069
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Atelectasis, Respir... OMIM:269860
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Atrophic scars, Palmoplantar keratoderma, Aplasia cutis congenita, Milia, Anemia ORPHA:79411
Lenz-Majewski Hyperostotic Dwarfism
Elbow flexion contracture, Cutis laxa, Knee flexion contracture, Thin skin, Intrauterine growth r... OMIM:151050
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Oculocerebral Hypopigmentation Syndrome, Cross Type
Thin skin, Anemia ORPHA:2719
Cushing Disease
Leukocytosis, Skin ulcer, Proximal amyotrophy, Pedal edema, Thin skin, Decreased eosinophil count... ORPHA:96253
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morphology, Splen... ORPHA:667
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Generalized edema, Apnea, Edema, Cardiomegal... ORPHA:79330
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Pallor, Cough, Pulmonary edema ORPHA:137675
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Pneumonia, Edema, Respiratory tract infection, Myocarditis, Leukocytosis, Dyspn... ORPHA:544482
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... ORPHA:98870
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Myopathy, Dermal atrophy, Skin vesicle, Papule ORPHA:257
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Aplasia/Hypoplasi... ORPHA:221
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Recurrent pneumonia, Cardiomegaly ORPHA:3137
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, Camptodactyly of finger, Tracheomalacia ORPHA:896
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... ORPHA:1572
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Myopathy, Dis... ORPHA:42
Ablepharon Macrostomia Syndrome
Redundant skin, Camptodactyly of finger, Excessive wrinkled skin, Thin skin, Dry skin ORPHA:920
Epidermolysis Bullosa, Junctional 1B, Severe
Death in infancy, Atrophic scars, Milia, Congenital localized absence of skin OMIM:226700
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Acute Radiation Syndrome
Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scaling skin, Granulocytopenia, Dermal atro... ORPHA:454831
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... ORPHA:3092
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Polyhydramnios, Death in childhood OMIM:619847
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Oligohyd... OMIM:617022
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... OMIM:252920
Coronary Arterial Fistula
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Abnormal heart morphology... ORPHA:2041
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Preauricular skin tag ORPHA:2707
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells, Facial erythema OMIM:618307
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Dermal at... ORPHA:85202
Costello Syndrome
Redundant neck skin, Ventricular septal defect, Rhabdomyosarcoma, Tracheomalacia, Polyhydramnios,... OMIM:218040
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventric... OMIM:617713
Focal Facial Dermal Dysplasia Type Iii
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Redundan... ORPHA:1807
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Pneumonia, Secundum atrial septal defect, Flexion contracture, ... OMIM:264090
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Small cell lung carcinoma, ... ORPHA:99889
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin OMIM:132000
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Pneumonia, Bronchitis, Resp... ORPHA:125
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Atelectasis, Recurrent pneumonia, Lymph... OMIM:306400
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Nonimmune hydrops fetalis, Pure red cell aplas... ORPHA:124
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin ORPHA:1643
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Polyhydramnios, Recu... ORPHA:496641
Fanconi Anemia, Complementation Group C
Hypopigmented macule, Pancytopenia, Ventricular septal defect, Anemic pallor, Thrombocytopenia, F... OMIM:227645
Tay-Sachs Disease
Aspiration, Pallor OMIM:272800
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:601005
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... ORPHA:1329
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Edema, Dyspnea, Skin erosion, Pneumothorax, Dilated cardiomyopat... ORPHA:79404
Poliomyelitis
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the mu... ORPHA:2912
Degcags Syndrome
Polyhydramnios, Leukopenia, Iron deficiency anemia, Pallor, Atrial septal defect, Diaphragmatic e... OMIM:619488
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Myopathy, Respir... ORPHA:506
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alanine aminotransferase concen... OMIM:615381
Fumarase Deficiency
Polyhydramnios, Intrahepatic cholestasis, Ascites, Perimembranous ventricular septal defect, Pall... OMIM:606812
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Macule, Aplasia/Hypopla... ORPHA:1775
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotranspositio... OMIM:306955
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Aplasia/Hypoplasia o... ORPHA:646
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... ORPHA:79480
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Abnormal hemidiaphragm morphology, Cardiomegaly, Non... ORPHA:980
Relapsing Polychondritis
Abnormal endocardium morphology, Macule, Pericarditis, Myocarditis, Atelectasis, Dyspnea, Erythem... ORPHA:728
Tuberous Sclerosis Complex
Respiratory distress, Epidermoid cyst, Respiratory tract infection, Cardiac rhabdomyoma, Respirat... ORPHA:805
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Pulmonary arterial hypertension, Intrauterine growth retar... OMIM:619051
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Werner Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Miscarriage, Pulmonary artery stenosis, ... ORPHA:902
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Nonimmune hydrops fetalis, Anemia, Cardiomegaly OMIM:618838
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness, Hypopigmented skin pa... ORPHA:206436
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Apnea, Dehydration, Cardiomyopathy, Pallor, Aspiration ORPHA:2131
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... OMIM:261740
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Arth... OMIM:617301
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Elevated hepatic transaminase, Petechiae, Pneumonia, Epistaxis, Dyspnea, Le... ORPHA:340
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Death in infancy, Polyhydramnios, Microvesicular hepatic steatosis... OMIM:300868
Abetalipoproteinemia
Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Myopa... ORPHA:14
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Aplasia/Hypoplasia of the skin, Flexion contracture, Lack of skin elasticity, Palmoplantar kerato... ORPHA:1979
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Neonatal respiratory distress, Aplasia/Hypoplasia of the skin, Camptodac... ORPHA:2990
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory d... OMIM:233450
Even-Plus Syndrome
Atrial septal defect, Aplasia cutis congenita, Patent foramen ovale, Oligohydramnios OMIM:616854
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent forame... OMIM:618652
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor OMIM:617675
Truncus Arteriosus
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... ORPHA:3384
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Ablepharon-Macrostomia Syndrome
Redundant skin, Thin skin, Camptodactyly, Premature skin wrinkling, Dry skin OMIM:200110
Stiff Skin Syndrome
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lack of skin elasticity ORPHA:2833
Vascular Ehlers-Danlos Syndrome
Macule, Abnormal heart valve morphology, Redundant skin, Pneumothorax, Aplasia/Hypoplasia of the ... ORPHA:286
Zygomycosis
Pericarditis, Sinusitis, Epistaxis, Cough, Myocarditis, Mediastinal lymphadenopathy, Peritonitis,... ORPHA:73263
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Polyhydramnios, Flexion contracture, Hepatoblastoma, Atrial septal defect, I... ORPHA:96334
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, L... OMIM:600901
Childhood Absence Epilepsy
Pallor, Hyperventilation ORPHA:64280
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Pedal edema, Hypoxemia, Atrial septal ... ORPHA:439
Joubert Syndrome 21
Apnea, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hyperkeratosis, Recurrent respiratory infections, Xerostomia, Thin skin OMIM:129900
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Facial palsy, Pneumonia, Hypercapnia, Respira... ORPHA:79138
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splen... ORPHA:465508
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:614921
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Aplasia/Hypoplasia of the skin, Congenital diaphragmatic her... ORPHA:2556
Wiedemann-Rautenstrauch Syndrome
Dermal translucency, Camptodactyly of finger, Congenital malformation of the left heart, Skeletal... ORPHA:3455
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx ORPHA:280210
Localized Junctional Epidermolysis Bullosa
Limb joint contracture, Scarring alopecia of scalp, Atypical scarring of skin, Milia, Aplasia cut... ORPHA:251393
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, L... OMIM:227650
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Subungual hyperkeratosis, Right ventricular ... OMIM:601214
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neutropenia, Neonatal death, Re... OMIM:617248
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Congenital hypertrophy of ... OMIM:239850
Xeroderma Pigmentosum Variant
Dry skin, Dermal atrophy ORPHA:90342
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Cardiomegaly, Tachypnea, Death in childhood, Pulmonary arterial hypertension OMIM:613320
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recurrent upper re... ORPHA:51636
Loeys-Dietz Syndrome
Atypical scarring of skin, Camptodactyly of finger, Striae distensae, Thin skin ORPHA:60030
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... OMIM:127550
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Macular e... ORPHA:892
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Skin erosion, Acantholysis, Aplasia cutis congenita OMIM:609638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy OMIM:616538
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha... OMIM:181000
Retinitis Pigmentosa 75
Pallor OMIM:617023
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Flynn-Aird Syndrome
Skeletal muscle atrophy, Dermal atrophy, Skin ulcer ORPHA:2047
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Retroperitoneal f... OMIM:602782
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Dyspnea, Peripheral edema, Right ventricular hypertrophy, Abnormality... ORPHA:1677
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Respiratory failure, Thrombocytopenia ORPHA:3240
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Annular cutaneous lesion, Psoriasiform lesion, Dermal atrophy ORPHA:163525
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Redundant skin, Congenital diaphragmatic hernia, Cutis laxa, Em... OMIM:219100
Desmosterolosis
Aplasia/Hypoplasia of the skin, Splenomegaly, Anomalous pulmonary venous return, Dermal atrophy, ... ORPHA:35107
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Generalized hy... ORPHA:349
Hypermobile Ehlers-Danlos Syndrome
Apnea, Subcutaneous nodule, Aplasia/Hypoplasia of the abdominal wall musculature, Atypical scarri... ORPHA:285
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary i... ORPHA:647
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Bone... OMIM:227646
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Erythema, Hyperkeratosis, Pallor OMIM:308300
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Apnea, Redundant skin, Cardiomegaly, Secundum atrial ... OMIM:300855
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Skeletal muscle atrophy, Respiratory failure requiring assisted ve... ORPHA:273
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia, Anemia OMIM:620365
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:1657
Oculocerebrocutaneous Syndrome
Skin tags, Aplasia/Hypoplasia of the skin, Congenital diaphragmatic hernia, Hypopigmented skin pa... ORPHA:1647
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Scarring alopecia of scalp, Skin erosi... ORPHA:158684
Sandhoff Disease
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Death in c... OMIM:268800
22Q11.2 Deletion Syndrome
Purpura, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality of the tonsi... ORPHA:567
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Generalized muscle hypertrophy, Respiratory insu... OMIM:139210
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Flexion contracture, ... OMIM:230000
Fabry Disease
Abnormal endocardium morphology, Lymphedema, Dyspnea, Emphysema, Chronic pulmonary obstruction, S... ORPHA:324
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Excessive wrinkled skin, Bone marrow hypocellularity, Derm... ORPHA:3322
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Anemia, Edema ORPHA:329971
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema, Cardiomegaly, Subcutaneous nodule, Hyperkeratosis, Papule ORPHA:79280
Adenohypophysitis
Normochromic anemia, Pallor ORPHA:95512
Multiple Endocrine Neoplasia Type 2
Cervical lymphadenopathy, Proximal amyotrophy, Neoplasm of the lung, Neoplasm of the liver, Pallor ORPHA:653
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... OMIM:300257
Panhypophysitis
Normochromic anemia, Pallor ORPHA:95513
Bohring-Opitz Syndrome
Recurrent respiratory infections, Facial hypotonia, Apnea, Cardiomegaly, Bilateral wrist flexion ... ORPHA:97297
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, Limb hypertonia OMIM:620306
Pituitary Apoplexy
Normochromic anemia, Pallor ORPHA:95613
Sheehan Syndrome
Normochromic anemia, Dry skin, Pallor ORPHA:91355
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Redundant skin, Dyspnea, Bronchiectasis, Cutis laxa, Emphysema, Periph... OMIM:123700
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Subcutaneous nodule, Leukopenia, Cough, Emphyse... ORPHA:797
Familial Aortic Dissection
Exertional dyspnea, Paroxysmal dyspnea, Cardiomegaly ORPHA:229
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... ORPHA:268
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... OMIM:231005
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Dehydration... ORPHA:96191
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Pulmonary edema, Cardiomegaly OMIM:105210
Acrofacial Dysostosis, Palagonia Type
Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1787
Fraser Syndrome 2
Respiratory failure, Hypoplasia of the thymus, Oligohydramnios OMIM:617666
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Restrictive Dermopathy
Dermal translucency, Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Epiderma... ORPHA:1662
Lyme Disease
Joint swelling, Skin nodule, Dermal atrophy ORPHA:91546
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Autosomal Recessive Cutis Laxa Type 1
Redundant skin, Dilatation of the ventricular cavity, Pneumothorax, Recurrent pneumonia, Lack of ... ORPHA:90349
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Hepatic calcification, Cardiomyopathy,... ORPHA:228308
Cutis Marmorata Telangiectatica Congenita
Aplasia/Hypoplasia of the skin, Blue nevus, Skin erosion, Multiple cafe-au-lait spots, Intrauteri... ORPHA:1556
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Prolactinoma
Pallor ORPHA:2965
Refsum Disease, Classic
Cardiomyopathy, Limb muscle weakness, Cardiomegaly OMIM:266500
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Abnormal intrahepatic bile duct m... ORPHA:363618
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... ORPHA:324410
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... ORPHA:3427
Dysosteosclerosis
Aplasia/Hypoplasia of the skin, Ventricular septal defect ORPHA:1782
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Dry skin, Death in adolescence, Dermal atrophy, Ascites OMIM:610965
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Respiratory failure, Death in childhood OMIM:618252
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Adenoiditis, Splenomegaly, Respir... ORPHA:581
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Dyspnea, Respiratory failure, Intrauterine growth ... ORPHA:2554
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Ca... OMIM:256040
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Splenomegaly, Recurrent pneumonia, ... OMIM:252500
Chand Syndrome
Atelectasis, Commissural lip pit, Dry skin, Skin erosion ORPHA:1401
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Aplasia cutis congenita on trunk or limbs, Erythema, Atrophic scars... ORPHA:79396
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Skin erosion, Flexion contracture, Dilated cardiomyopathy, Atypical scar... ORPHA:89842
Tropical Endomyocardial Fibrosis
Hepatomegaly, Orthopnea, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia,... ORPHA:75565
Rothmund-Thomson Syndrome
Calcinosis, Plantar hyperkeratosis, Aplasia/Hypoplasia of the skin, Aplastic anemia, Facial edema... ORPHA:2909
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Abnormal heart morphology, Respiratory failure, Atr... ORPHA:500150
Kindler Epidermolysis Bullosa
Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Erythema, Flexion contracture, Atypical ... ORPHA:2908
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Preauricular skin tag, Macroglossia, Art... OMIM:618143
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Atelectasis, Thrombocytopenia, Respiratory in... ORPHA:534
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Dermal translucency, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothor... OMIM:130050
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Curry-Jones Syndrome
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches ORPHA:1553
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Eec Syndrome
Aplasia/Hypoplasia of the skin, Xerostomia, Hyperkeratosis, Hypoplasia of the thymus, Nevus, Dry ... ORPHA:1896
Beckwith-Wiedemann Syndrome
Hepatomegaly, Nevus flammeus, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia,... ORPHA:116
Digeorge Syndrome
Ventricular septal defect, Thrombocytopenia, Splenomegaly, Atelectasis, Recurrent pneumonia, Chro... OMIM:188400
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Severe intrauterine growth retardation, ... ORPHA:3404
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Ab... ORPHA:2463
Rothmund-Thomson Syndrome Type 2
Calcinosis, Plantar hyperkeratosis, Aplastic anemia, Facial edema, Erythema, Facial erythema, Der... ORPHA:221016
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Rothmund-Thomson Syndrome Type 1
Calcinosis, Plantar hyperkeratosis, Aplastic anemia, Facial edema, Facial erythema, Dermal atroph... ORPHA:221008
Barber-Say Syndrome
Aplasia/Hypoplasia of the skin, Redundant skin ORPHA:1231
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea ORPHA:91387
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Miscarriage, Pulmonar... OMIM:245150
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Mitral valve prolapse, Hepatic arteriovenous mal... OMIM:175050
Oculoectodermal Syndrome
Epidermal nevus, Lymphedema, Preauricular skin tag, Atrial septal defect, Aplasia cutis congenita... OMIM:600268
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Xeroderma Pigmentosum, Complementation Group A
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus OMIM:278700
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Restrictive ventilatory defect, Bone ma... OMIM:305000
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Atypical scarring of skin, Dermal atrophy, Death in childhood, Intrau... OMIM:133540
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cardiomegaly, Neonatal allo... ORPHA:51
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Respiratory insufficiency, Respiratory failure, Stillbirth, Atrial septal defect OMIM:304120
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:2636
Beckwith-Wiedemann Syndrome
Hepatomegaly, Nevus flammeus, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia... OMIM:130650
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Muscular dystrophy OMIM:253280
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Miscarriage, Pulmonary arteriovenous malformation, Dyspnea, Hyp... OMIM:187300
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Asymmetric, linear skin defects, Dilated cardiomyopathy OMIM:300952
Toriello-Lacassie-Droste Syndrome
Aplasia/Hypoplasia of the skin, Polyhydramnios ORPHA:3339
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Hypermelanotic macule, Aort... ORPHA:740
Barber-Say Syndrome
Redundant skin, Dermal atrophy, Premature skin wrinkling, Dry skin, Dermal translucency OMIM:209885
Williams Syndrome
Bicuspid aortic valve, Redundant skin, Cardiomegaly, Periorbital edema, Atrial septal defect, Ove... ORPHA:904
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Asymmetric, linear ... OMIM:309801
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Edema, Cardiomegaly, Pericardial effusion, Polyhyd... ORPHA:51608
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal tr... ORPHA:3472
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Spontaneous, recurrent epistaxis, Epistaxis, Pulmonary arteriovenous ma... ORPHA:2929
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Lenz-Majewski Hyperostotic Dwarfism
Redundant skin, Aplasia/Hypoplasia of the skin, Facial palsy ORPHA:2658
Kindler Syndrome
Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy, Palmoplantar hyperkeratosis OMIM:173650
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, Iron deficiency anemia, Atro... ORPHA:79408
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... OMIM:182250
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformation, Dyspnea, Cirrhosis, Pulmo... OMIM:600376
Branchiooculofacial Syndrome
Preauricular pit, Facial palsy, Aplasia cutis congenita, Lower lip pit, Elbow flexion contracture... OMIM:113620

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 Morf4l1

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 Morf4l1.

No publications found that use IMPC mice or data for Morf4l1.

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