| Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
| Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
| Athrombia, Essential |
|
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... |
OMIM:209050 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time |
OMIM:615888 |
| Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time |
OMIM:614201 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time |
OMIM:614158 |
| Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:608404 |
| Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
| Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
| Glanzmann Thrombasthenia |
|
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... |
ORPHA:849 |
| Factor V Deficiency |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... |
OMIM:227400 |
| Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
| Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
| Osteoarthritis Susceptibility 3 |
|
Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... |
OMIM:607850 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... |
OMIM:231200 |
| Chondrocalcinosis 2 |
|
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis |
OMIM:118600 |
| Chondrocalcinosis 1 |
|
Chondrocalcinosis, Osteoarthritis |
OMIM:600668 |
| Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... |
OMIM:160120 |
| Platelet Disorder, Undefined |
|
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time |
OMIM:173420 |
| Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
| Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... |
OMIM:613679 |
| +173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Bruising susceptibility, Abnormal bleeding, Intracrania... |
OMIM:173470 |
| Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... |
OMIM:277480 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... |
OMIM:609821 |
| Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Subdural hemorrhage, Hematemesis, Persistent bleeding after tr... |
OMIM:202400 |
| Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Poor wound healing, Bruising susceptibility |
OMIM:262800 |
| Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
| Familial Cervical Artery Dissection |
|
Carotid artery dilatation, Stroke, Carotid artery dissection, Recurrent cerebral hemorrhage, Suba... |
ORPHA:36382 |
| Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Stroke, Absent ankle pulse, Pallor, Myocardial infarction, Abnormal... |
ORPHA:90064 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Flexion contracture, Cognitive impairment, Babinski sign, Tremor, Spasticity |
OMIM:611105 |
| Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Me... |
OMIM:155100 |
| Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:185050 |
| Talo-Patello-Scaphoid Osteolysis |
|
Enlarged joints, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis |
ORPHA:50809 |
| Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Mental deterioration, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, ... |
OMIM:614561 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis |
OMIM:216950 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Cognitive impairment, Myoclonus, Anxiety, Rigidity, Parkinsonism, Chorea, Memory impairme... |
ORPHA:401901 |
| Purpura Simplex |
|
Epistaxis, Purpura, Menorrhagia, Bruising susceptibility |
OMIM:179000 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis |
OMIM:612336 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:188025 |
| Factor Xiii, B Subunit, Deficiency Of |
|
Abnormal umbilical stump bleeding, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding... |
OMIM:613235 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
OMIM:609655 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... |
OMIM:614009 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a... |
OMIM:193400 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... |
ORPHA:79262 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Subarachnoid hemorrhage, Purpura, ... |
ORPHA:853 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Epistaxis, Bruising susceptibility, Prolonged bleeding time |
OMIM:314050 |
| Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Menor... |
OMIM:139090 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Persistent bleeding after trauma, Hepatic failure, Prolonged bleeding after den... |
ORPHA:331 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed ossification of carpal... |
OMIM:105835 |
| Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... |
ORPHA:326 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Cutaneous Small Vessel Vasculitis |
|
Urticaria, Cutis marmorata, Erythema, Vasculitis, Purpura |
ORPHA:889 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Irritability, Cognitive impairment, Emotional lability, Abnor... |
ORPHA:216873 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... |
OMIM:187900 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage |
OMIM:603284 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
| Epidermolysis Bullosa Simplex 5A, Ogna Type |
|
Skin fragility with non-scarring blistering, Bruising susceptibility |
OMIM:131950 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Abnormal esophagus physiology, Dysphagia... |
ORPHA:2198 |
| Kienbock Disease |
|
Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans |
ORPHA:97332 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
OMIM:613225 |
| Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage, Epistaxis |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage, Epistaxis |
ORPHA:98881 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Mental deterioration, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality o... |
OMIM:615362 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
| Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Orthostatic Hypotensive Disorder, Streeten Type |
|
Facial erythema, Orthostatic hypotension, Bruising susceptibility, Syncope |
OMIM:143850 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Complement Component 4A Deficiency |
|
Purpura, Cutaneous photosensitivity, Vasculitis |
OMIM:614380 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Fechtner syndrome |
|
Nephritis, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Prolonged bleeding time |
OMIM:153640 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Limb ataxia, Cognitive impairment, Mental deterioration, Elevated circulating creatine ki... |
OMIM:208920 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Familial Afibrinogenemia |
|
Miscarriage, Cerebral hemorrhage, Abnormal bleeding, Gingival bleeding, Epistaxis |
ORPHA:98880 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Retic... |
OMIM:612126 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... |
ORPHA:284388 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin, Neonatal death, Congestive heart failure |
OMIM:301021 |
| Huntington Disease-Like 2 |
|
Apathy, Action tremor, Bradykinesia, Anxiety, Rigidity, Chorea, Weight loss, Dystonia, Irritabili... |
OMIM:606438 |
| Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Myoclonus, Anxiety, Tremor, Writer's cramp |
OMIM:159900 |
| Slc35A1-Cdg |
|
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Pneumonia, Prolonged bleeding time |
ORPHA:238459 |
| Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... |
ORPHA:274 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Fragile skin, Gingival bleeding, Bruising susceptibility, Umbilical hernia |
OMIM:617174 |
| Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Skin rash, Prolonged bleeding time |
ORPHA:1059 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor |
OMIM:264070 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Cutaneous Collagenous Vasculopathy |
|
Vascular skin abnormality, Petechiae, Diffuse telangiectasia, Prominent superficial blood vessels... |
ORPHA:280779 |
| Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Abnormal bleeding, Intracranial hemorrhage, Tach... |
ORPHA:449285 |
| Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... |
ORPHA:327 |
| Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
| Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia, Dementia |
OMIM:615889 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceride... |
OMIM:615924 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Joint hemorrhage, Myocardial fibrosis, Miscarriage, Hemoperitoneum, Persistent bleeding after tra... |
ORPHA:465 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Abdominal pain, Peritonitis, Diarrhea, Erythema, Vasculitis, Intestinal obstruction, P... |
ORPHA:343 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Giant platelet syndrome with thrombocytopenia |
|
Prolonged bleeding after dental extraction, Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:137560 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura, Pulmonary embolism, Subcutaneous hemorrhage |
ORPHA:743 |
| Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Hepatic failure, Macular purpura, Intracranial hemorrhage, Shock, Internal ... |
ORPHA:49566 |
| Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Progressive neurologic deterioration, Tremor, Choreoathetosis, Hyperphenyl... |
OMIM:261630 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension, Purpura |
OMIM:161950 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Purpura |
ORPHA:529 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Bradykinesia, Mental deterioration, Dysdiadochokinesi... |
OMIM:213600 |
| Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Cognitive impairment, Babinski sign, Rigidity, Parkinsonism, Head tremor, Memory imp... |
ORPHA:101109 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Complement Component 2 Deficiency |
|
Purpura |
OMIM:217000 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired platelet aggregation, Epistaxis, Bruising susceptibility, Prolonged bleeding time |
OMIM:601399 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Progressive ... |
OMIM:261640 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Patent ductus arteriosus, Internal hem... |
ORPHA:90308 |
| Factor Vii Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis |
OMIM:227500 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
| Isolated Polycystic Liver Disease |
|
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Feeding difficulties in infancy, G... |
ORPHA:2924 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Intentio... |
ORPHA:98762 |
| Primary Release Disorder Of Platelets |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Menorrhagia, Bruising susceptibility |
OMIM:176630 |
| Fibrinolytic Defect |
|
Spontaneous hematomas |
OMIM:134900 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor |
OMIM:141500 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
| Thrombocytopenia 2 |
|
Bruising susceptibility |
OMIM:188000 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Cryoglobulinemic Vasculitis |
|
Petechiae, Abdominal pain, Cutis marmorata, Vasculitis, Gastrointestinal infarctions, Purpura, Sk... |
ORPHA:91138 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility |
OMIM:614200 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis |
ORPHA:745 |
| Dengue Fever |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Abdominal pain, Diarrhea, Hypotension, G... |
ORPHA:99828 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Elevated circulating creatine kinase concentration |
OMIM:615048 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art... |
OMIM:208250 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Mental deterioration, Cachexia, Babinski sign, Parkinsonism, Anxiety, Chorea, ... |
OMIM:618093 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Malabsorption, Gastroesophageal reflux, Abnormal pericardium morphology, Abdominal pai... |
ORPHA:183 |
| Passovoy Factor Defect |
|
Abnormal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility |
OMIM:168830 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Moderate Hemophilia A |
|
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... |
ORPHA:169805 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Pleural effusion, Gastrointestinal infarctions, Constrictive pericar... |
OMIM:602248 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Bruising susceptibility, Arrhythmia, Spina bifida occulta, Mitral valve prolapse, Gastrointestina... |
ORPHA:230839 |
| Severe Hemophilia A |
|
Joint hemorrhage, Joint swelling, Prolonged bleeding following circumcision, Persistent bleeding ... |
ORPHA:169802 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Babinski ... |
ORPHA:64753 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Anxi... |
OMIM:604326 |
| Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... |
ORPHA:99147 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Anxiety, Tremor, Dystonia |
OMIM:619651 |
| Myh9-Related Disease |
|
Nephritis, Bruising susceptibility, Menorrhagia, Spontaneous, recurrent epistaxis, Prolonged blee... |
ORPHA:182050 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
| Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Memory impairment, Sp... |
ORPHA:251282 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Decreased circulating ferritin concentration, Ataxia, Blepharospasm, Laryngeal dystonia, Bradykin... |
OMIM:606159 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Multiple joint contractures, Bradykinesia, Ankle clonus, Babinski sign, P... |
ORPHA:521406 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia, Craniosynostosis |
ORPHA:88643 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Cognitive impairment, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity |
OMIM:615768 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... |
ORPHA:454887 |
| Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
| Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Subcutaneous hemorrhage |
ORPHA:1980 |
| Hemophilia A With Vascular Abnormality |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal hem... |
OMIM:306800 |
| Neuroendocrine Tumor Of The Rectum |
|
Melena, Bowel urgency, Bloody diarrhea, Abnormal pulmonary valve cusp morphology, Tricuspid regur... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Melena, Bowel urgency, Bloody diarrhea, Abnormal pulmonary valve cusp morphology, Tricuspid regur... |
ORPHA:100082 |
| Hemophilia A |
|
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Bleeding Disorder In Hemophilia A Carriers |
|
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Abnormal bleeding, Prolonged b... |
ORPHA:177926 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cognitive impairme... |
ORPHA:314632 |
| Hermansky-Pudlak Syndrome 6 |
|
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... |
OMIM:614075 |
| Saccharopinuria |
|
Hyperlysinemia, Hyperammonemia, Mental deterioration, Spastic diplegia, Cognitive impairment, Tre... |
ORPHA:3124 |
| Acute Promyelocytic Leukemia |
|
Petechiae, Bruising susceptibility, Abdominal pain, Abnormal bleeding, Anorexia, Oral cavity blee... |
ORPHA:520 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... |
ORPHA:3202 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
| Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... |
OMIM:227600 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Failure to thrive, ... |
OMIM:267700 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Anxiety, Rigidity, Parkinsonism, Dystonia, Dementia |
OMIM:605909 |
| Hemochromatosis, Type 3 |
|
Purpura, Cardiomyopathy |
OMIM:604250 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... |
OMIM:619868 |
| Factors Viii, Ix And Xi, Combined Deficiency Of |
|
Joint hemorrhage, Ecchymosis, Bruising susceptibility |
OMIM:134520 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation |
OMIM:613112 |
| Evans Syndrome |
|
Petechiae, Jaundice, Bruising susceptibility, Pallor, Syncope, Epistaxis |
ORPHA:1959 |
| Hermansky-Pudlak Syndrome 5 |
|
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Epistaxis, Prolo... |
OMIM:614074 |
| Hermansky-Pudlak Syndrome 1 |
|
Colitis, Bruising susceptibility, Abdominal pain, Inflammation of the large intestine, Hematochez... |
OMIM:203300 |
| Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Anal fissure, S... |
ORPHA:209964 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... |
OMIM:277450 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Cognitive impairment, Myocl... |
OMIM:617284 |
| Waldenström Macroglobulinemia |
|
Urticaria, Malabsorption, Pallor, Cutis marmorata, Anorexia, Diarrhea, Retinal hemorrhage, Vascul... |
ORPHA:33226 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Anxiety, Parkinsonism, Tremor, Emotional lability, Dystonia |
OMIM:128235 |
| Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Bruising susceptibility |
OMIM:616216 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Pallor, Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure |
ORPHA:49827 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus |
OMIM:616921 |
| Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Subarachnoid hemorrhage, Hematochezia, Protein-losing enteropathy, Prema... |
OMIM:277175 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun... |
ORPHA:136 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Congenital Fibrinogen Deficiency |
|
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... |
ORPHA:335 |
| Diffuse Cutaneous Mastocytosis |
|
Urticaria, Flushing, Dermatographic urticaria, Abdominal pain, Generalized abnormality of skin, D... |
ORPHA:79456 |
| Familial Calcium Pyrophosphate Deposition |
|
Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Limitation of jo... |
ORPHA:1416 |
| Stroke, Ischemic |
|
Stroke |
OMIM:601367 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Sjogren Syndrome |
|
Rheumatoid arthritis, Tubulointerstitial nephritis, Autoimmunity, Keratoconjunctivitis sicca |
OMIM:270150 |
| Fetal Gaucher Disease |
|
Intracranial hemorrhage, Stillbirth, Neonatal death, Death in infancy |
ORPHA:85212 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse, Petechiae, Striae distensae, Bruising susceptibility |
OMIM:225310 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Retinal telangiectasia, Esophageal varix, Portal hypertension, Gastrointestinal hemorrhage, Prema... |
OMIM:617341 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Hepatocellular carcinoma, Esophageal varix, Ecchymosis, Portal hypertension, Ascites, ... |
OMIM:619463 |
| Congenital Factor Xi Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Gas... |
ORPHA:329 |
| Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Wiskott-Aldrich Syndrome |
|
Urticaria, Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, ... |
ORPHA:906 |
| Wild Type Abeta2M Amyloidosis |
|
Arrhythmia, Dysphagia, Intestinal pseudo-obstruction, Gastrointestinal hemorrhage, Abnormal intes... |
ORPHA:85446 |
| Simple Cryoglobulinemia |
|
Vascular skin abnormality, Abdominal pain, Raynaud phenomenon, Abnormality of the gastrointestina... |
ORPHA:91139 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Skin ulcer, ... |
ORPHA:624 |
| Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pyloric stenosis, Gastrointestinal hemorrhage, Gastrointestinal dysmot... |
ORPHA:363705 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... |
OMIM:605735 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Malabsorption, Jaundice |
ORPHA:79301 |
| Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Tremor, Hemiballismus, Chorea |
ORPHA:494526 |
| Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... |
ORPHA:2494 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Menorrhagia, Spontaneous hematomas |
OMIM:616176 |
| Immunoglobulin A Vasculitis |
|
Urticaria, Vascular skin abnormality, Bruising susceptibility, Abdominal pain, Anorexia, Erythema... |
ORPHA:761 |
| Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Rigidity, Tremor, Ga... |
ORPHA:98763 |
| Anti-Glomerular Basement Membrane Disease |
|
Purpura, Vasculitis |
ORPHA:375 |
| Mixed Connective Tissue Disease |
|
Joint swelling, Gastritis, Gastroesophageal reflux, Xerostomia, Myocarditis, Purpura, Gastrointes... |
ORPHA:809 |
| Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... |
OMIM:300894 |
| Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Apathy, Bradykinesia, Mental det... |
ORPHA:240085 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Decreased liver function, Petechiae, Gastroesophageal reflux, Abdominal pain, Diarrhea... |
ORPHA:85450 |
| Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
| Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
| Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, D... |
ORPHA:324636 |
| Ganglioneuroma |
|
Episodic abdominal pain, Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Color... |
ORPHA:251992 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Ankle flexion contracture, Cognitive impairment |
OMIM:616668 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Rigidity, Dystonia |
OMIM:615010 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Increased intramuscul... |
ORPHA:276435 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Myoclonus, Elevated circulating creatine kinase concentration, Memory impairment, Tremor |
OMIM:614018 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Cap Polyposis |
|
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... |
ORPHA:160148 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Fragile skin, Bruising susceptibility |
OMIM:130010 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Behr Syndrome |
|
Hamstring contractures, Ataxia, Dysmetria, Babinski sign, Adductor longus contractures, Progressi... |
OMIM:210000 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Hypoalbuminemia, Spastic dysarthria, Hypercholesterolemia |
ORPHA:94124 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Cognitive impairment, Abnormal pyramidal sign, Incoordination, Tremor, Obesity |
OMIM:614947 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia, Memory impairment |
ORPHA:79234 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Hematochezia, Perianal abscess |
OMIM:613148 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Anxiety, Parkinsonism, Craniofacial dystonia, Gait ata... |
ORPHA:71517 |
| X-Linked Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Bruising susceptibility, Umbilical hernia |
ORPHA:75497 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... |
OMIM:612736 |
| Primary Myelofibrosis |
|
Petechiae, Abnormal bleeding, Pallor, Anorexia, Purpura, Ecchymosis, Portal hypertension |
ORPHA:824 |
| Microscopic Polyangiitis |
|
Subcutaneous hemorrhage, Abdominal pain, Cutis marmorata, Peritonitis, Diarrhea, Erythema, Arrhyt... |
ORPHA:727 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Ataxia, Limb ataxia, Chorea, Tremor, Aceruloplasmin... |
ORPHA:48818 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Petechiae, Impaired platelet aggregation |
OMIM:187800 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Aggressive behavior... |
OMIM:612716 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Menorrhagia, Bruising susceptibility |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Menorrhagia, Bruising susceptibility |
OMIM:613554 |
| Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Abdominal distention, Enterocolitis, Abnormal bleeding, Pall... |
ORPHA:90051 |
| Immunodeficiency, Common Variable, 6 |
|
Purpura |
OMIM:613496 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Ataxia, Reduced intraabdominal adipose tissue, Progressive p... |
ORPHA:363400 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
| Gaucher Disease, Perinatal Lethal |
|
Petechiae, Hepatic failure, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Purpura, D... |
OMIM:608013 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Mental deterioration, Cognitive impairment, Dysdiadochokinesis, A... |
OMIM:617145 |
| Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
| Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... |
ORPHA:53719 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatic failure, Hemothorax, Diarrhea, Myocarditis, ... |
ORPHA:99827 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Bloody diarrhea, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Hypertrophic card... |
ORPHA:464321 |
| Periventricular Nodular Heterotopia 1 |
|
Stroke, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:300049 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Petechiae, Bruising susceptibility, Prolonged bleeding after dental extraction, Menorrhagia, Ging... |
OMIM:153670 |
| Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Mental deterioration, Babinski sign, Chorea, Tremor, Sp... |
OMIM:164500 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... |
OMIM:605714 |
| Meningococcal Meningitis |
|
Petechiae, Projectile vomiting, Anorexia, Hypotension, Shock, Purpura |
ORPHA:33475 |
| Dural Sinus Malformation |
|
Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal facial vein mor... |
ORPHA:97339 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Dehydration, Diarrhea, Hematochezia, Protein-losing enteropathy, Edema |
ORPHA:103910 |
| Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
| Lujo Hemorrhagic Fever |
|
Abdominal cramps, Odynophagia, Facial edema, Excessive bleeding after a venipuncture, Diarrhea, F... |
ORPHA:319213 |
| Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Multiple gastric polyps, Erythema, Vasculitis, Feeding difficulties in infancy, Purpur... |
OMIM:225750 |
| Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... |
ORPHA:31825 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Dea... |
OMIM:243150 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
| Tufted Angioma |
|
Purpura, Petechiae |
ORPHA:1063 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Dementia |
OMIM:301840 |
| Hemophilia B |
|
Joint hemorrhage, Gastrointestinal hemorrhage, Abnormal bleeding, Persistent bleeding after trauma |
OMIM:306900 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Pallor |
ORPHA:517 |
| Hypermanganesemia With Dystonia 2 |
|
Oromandibular dystonia, Limb joint contracture, Clumsiness, Bradykinesia, Irritability, Opisthoto... |
OMIM:617013 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Progressive neurologic deterioration, Tremor, ... |
OMIM:233910 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Bruising susceptibility |
ORPHA:721 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Failure to thrive, ... |
OMIM:603553 |
| Polymyositis |
|
Abnormal mitral valve morphology, Constipation, Gastroesophageal reflux, Abdominal pain, Anorexia... |
ORPHA:732 |
| Eosinophilic Gastroenteritis |
|
Malabsorption, Abdominal pain, Steatorrhea, Diarrhea, Abnormality of the gastrointestinal tract, ... |
ORPHA:2070 |
| Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Hypoa... |
OMIM:209950 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Petechiae, Epistaxis, Persistent bleeding after trauma, Bruising susceptibility |
OMIM:300367 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Cognitive impairment, Dysdiadochokinesis, B... |
OMIM:615157 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Bruising susceptibility, Poor wound healing, Facial erythema, Purpura, Striae distensae, Ecchymos... |
OMIM:219090 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Cognitive impairment, Myoclonus, Myo... |
ORPHA:79263 |
| Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Stroke, Cerebral hemorrhage |
OMIM:182410 |
| Encephalopathy, Ethylmalonic |
|
Petechiae, Feeding difficulties, Death in infancy, Chronic diarrhea, Acrocyanosis |
OMIM:602473 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Pericardial effusion, Prolonged QTc interval |
ORPHA:231111 |
| Parkinson Disease 14, Autosomal Recessive |
|
Frontotemporal dementia, Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, M... |
OMIM:612953 |
| Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Stroke, Intracranial hemorrhage |
ORPHA:140989 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Purpura |
ORPHA:3204 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Chronic otitis media, Bruising susceptibility, Prolonged bleeding time |
ORPHA:3226 |
| Shigellosis |
|
Abdominal cramps, Bloody mucoid diarrhea, Urticaria, Bloody diarrhea, Paralytic ileus, Acute coli... |
ORPHA:810 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276556 |
| Typhoid |
|
Cardiac arrest, Constipation, Abdominal pain, Diarrhea, Arrhythmia, Gastrointestinal hemorrhage, ... |
ORPHA:99745 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... |
OMIM:270500 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Coronary artery atherosclerosis... |
ORPHA:280679 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Stuve-Wiedemann Syndrome 2 |
|
Intrauterine growth retardation, Death in adolescence, Neonatal death, Dysphagia, Pulmonary arter... |
OMIM:619751 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceride... |
OMIM:246700 |
| Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Abnormal pericardium morphology, Abdominal pain, Peritonitis, Myocard... |
ORPHA:679 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Al Amyloidosis |
|
Abnormal cardiac ventricle morphology, Abnormal P wave, Jaw claudication, Bruising susceptibility... |
ORPHA:85443 |
| Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:600116 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Tremor, Elbow flexion contracture, Aggressive behavior, Spastic tetraparesis |
OMIM:619470 |
| Hermansky-Pudlak Syndrome 3 |
|
Bruising susceptibility, Abnormal bleeding, Gingival bleeding, Spontaneous, recurrent epistaxis, ... |
OMIM:614072 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... |
ORPHA:507 |
| Desmoid Tumor |
|
Malabsorption, Abdominal pain, Desmoid tumors, Intestinal obstruction, Intestinal polyposis, Gast... |
ORPHA:873 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Aggressive behavior, Dystonia,... |
ORPHA:329284 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive |
ORPHA:79099 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276575 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Congenital Sialidosis Type 2 |
|
Petechiae, Abnormal EKG, Edema, Umbilical hernia, Telangiectasia, Ascites, Abnormal heart morphology |
ORPHA:93400 |
| Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Arthritis |
OMIM:177900 |
| Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Petechiae, Colitis, Bruising susceptibility, Purpura, Ecchymosis, Jaundice |
ORPHA:540 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Systemic lupus erythematosus, Pericarditis, Arthritis, Malar rash, Antinuclear antibody positivity |
OMIM:609939 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Pseudoxanthoma Elasticum |
|
Angina pectoris, Intermittent claudication, Mitral stenosis, Cutis laxa, Restrictive cardiomyopat... |
OMIM:264800 |
| Burkitt Lymphoma |
|
Intestinal obstruction, Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain |
ORPHA:543 |
| Pseudo-Torch Syndrome 2 |
|
Petechiae, Secundum atrial septal defect, Cerebral hemorrhage, Patent ductus arteriosus, Pleural ... |
OMIM:617397 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276580 |
| Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Bruising susceptibility, Abdomi... |
ORPHA:729 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
| Menkes Disease |
|
Death in childhood, Cutis laxa, Intracranial hemorrhage |
OMIM:309400 |
| Perry Syndrome |
|
Apathy, Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor function, Dementia |
ORPHA:178509 |
| Pseudoxanthoma Elasticum |
|
Angina pectoris, Telangiectasia of the skin, Bruising susceptibility, Excessive wrinkled skin, La... |
ORPHA:758 |
| Mpi-Cdg |
|
Decreased liver function, Diarrhea, Vomiting, Protein-losing enteropathy, Edema, Portal hypertens... |
ORPHA:79319 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... |
OMIM:601709 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Flexion contracture, Mental deterioration, Babinski sign, Tremor, Spasticity |
OMIM:609260 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Arteriovenous malformation, Mucosal telangiectasiae, Cerebral hemorrh... |
ORPHA:774 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... |
ORPHA:282166 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
