Gene Summary

Name:
coagulation factor II
Synonyms:
FII,  Cf-2,  thrombin,  prothrombin,  Cf2

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating fructosamine level F2tm1b(EUCOMM)Hmgu HET Early adult 8.46×10-05
preweaning lethality, incomplete penetrance F2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased exploration in new environment F2tm1b(EUCOMM)Hmgu HET Early adult 1.48×10-08
decreased lean body mass F2tm1b(EUCOMM)Hmgu HET Early adult 4.18×10-08
decreased mean corpuscular volume F2tm1b(EUCOMM)Hmgu HET   Early adult 8.99×10-05
tremors F2tm1b(EUCOMM)Hmgu HET Early adult 2.70×10-06
increased total body fat amount F2tm1b(EUCOMM)Hmgu HET Early adult 1.84×10-06
increased circulating serum albumin level F2tm1b(EUCOMM)Hmgu HET Early adult 6.49×10-05
decreased bone mineral content F2tm1b(EUCOMM)Hmgu HET Early adult 1.15×10-06

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 100% (1 of 1)
Liver N/A homozygote 100% (1 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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 F2 mutations

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

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

The table below shows human diseases associated to F2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Stroke, Ischemic
Stroke OMIM:601367
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Pregnancy Loss, Recurrent, Susceptibility To, 2
OMIM:614390

The table below shows human diseases predicted to be associated to F2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:608404
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ... OMIM:614201
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Glycoprotein Storage Disease
Gout OMIM:232900
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... OMIM:619491
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... OMIM:609821
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Subdural hemorr... OMIM:202400
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave... ORPHA:90064
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing OMIM:262800
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst... ORPHA:401901
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Flexion contracture, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:155100
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... ORPHA:309169
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time OMIM:185050
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Abnormality of extrapyramidal moto... OMIM:614561
Familial Cervical Artery Dissection
Striae distensae, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:36382
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibility, Abnorma... OMIM:613235
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time OMIM:188025
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Purpura Simplex
Bruising susceptibility, Menorrhagia, Epistaxis, Purpura OMIM:179000
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Ecchymosis, Bruising susceptibility, Epistaxis, Impaired thromboxane A2 agonist-induced platelet ... OMIM:614009
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... ORPHA:79262
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Congenital Factor Xiii Deficiency
Post-partum hemorrhage, Delayed onset bleeding, Inflammation of the large intestine, Ecchymosis, ... ORPHA:331
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Poor appetite, Abnormal large intestine morphol... ORPHA:2198
Cutaneous Small Vessel Vasculitis
Cutis marmorata, Erythema, Vasculitis, Urticaria, Purpura ORPHA:889
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Intrauterine growth retardation, Feeding difficulties, Death in chil... OMIM:620368
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:187900
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus OMIM:159900
Epidermolysis Bullosa Simplex 5A, Ogna Type
Skin fragility with non-scarring blistering, Bruising susceptibility OMIM:131950
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:98881
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Depr... ORPHA:216873
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Orthostatic Hypotensive Disorder, Streeten Type
Orthostatic hypotension, Syncope, Bruising susceptibility, Facial erythema OMIM:143850
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Redundant skin OMIM:301021
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Complement Component 4A Deficiency
Cutaneous photosensitivity, Vasculitis, Purpura OMIM:614380
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... OMIM:612126
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra... OMIM:615362
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Mental dete... OMIM:208920
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... ORPHA:101109
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Pneumonia, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Weight loss, Bradykinesia, Depression, Irritability, Deme... OMIM:606438
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Obesity, T... OMIM:616267
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra... OMIM:213600
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Familial Afibrinogenemia
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Bruising susceptibility, Epistaxis, Petechiae OMIM:314050
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... ORPHA:449285
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Prolonged bleeding after dental ex... ORPHA:465
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... ORPHA:280779
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Skin rash ORPHA:1059
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia,... OMIM:615924
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Choreoathetosis, Irritabilit... OMIM:261630
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression... OMIM:618093
Acquired Purpura Fulminans
Shock, Hepatic failure, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time... ORPHA:49566
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Erythe... ORPHA:343
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Iga Nephropathy, Susceptibility To, 1
Hypertension, Purpura OMIM:161950
Roch-Leri Mesosomatous Lipomatosis
Purpura ORPHA:529
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Skin ulcer, Subcutaneous hemorrhage, Pulmonary embolism ORPHA:743
Ehlers-Danlos Syndrome, Periodontal Type, 2
Prominent superficial veins, Colon cancer, Gingival bleeding, Umbilical hernia, Bruising suscepti... OMIM:617174
Migraine, Familial Hemiplegic, 1
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Cognitive ... ORPHA:314632
Complement Component 2 Deficiency
Purpura OMIM:217000
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia OMIM:605909
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Bruising susceptibility, Impaired platelet aggregation, Epistaxis OMIM:601399
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... ORPHA:90308
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Elevated circulating creatine kinase concentration OMIM:615048
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia OMIM:260540
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Epilepsy, Progressive Myoclonic 7
Tremor, Mental deterioration, Ataxia, Myoclonus OMIM:616187
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating... ORPHA:64753
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... ORPHA:99828
Primary Release Disorder Of Platelets
Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia OMIM:176630
Thrombocytopenia 2
Bruising susceptibility OMIM:188000
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Cutis marmorata, Abdominal pain, Vasculitis, Skin ulcer, Gastrointes... ORPHA:91138
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility OMIM:614200
Dystonia 12
Torticollis, Parkinsonism, Tremor, Depression, Bradykinesia, Dystonia, Emotional lability OMIM:128235
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion, Gastrointestinal infarc... OMIM:602248
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Moderate Hemophilia A
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism ORPHA:745
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ische... ORPHA:183
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Mitral valve prolapse, Arrhythmia, Spina bifida occulta, Bruising su... ORPHA:230839
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menorrhagia, Bruising susceptibility, ... ORPHA:182050
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait... ORPHA:521406
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal ataxia, Spasticity OMIM:615768
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi... ORPHA:169802
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter... ORPHA:60041
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Craniosynostosis ORPHA:88643
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling... ORPHA:98878
Saccharopinuria
Tremor, Mental deterioration, Hypercystinemia, Spastic diplegia, Hyperammonemia, Gait ataxia, Abn... ORPHA:3124
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Subcutaneous hemorrhage ORPHA:1980
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Acute Promyelocytic Leukemia
Abnormal bleeding, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Abdominal pain, Oral cavity ... ORPHA:520
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Mental deteriorat... ORPHA:240103
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100082
Evans Syndrome
Epistaxis, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation OMIM:613112
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Cognitive impairme... OMIM:617284
Hemochromatosis, Type 3
Cardiomyopathy, Purpura OMIM:604250
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggreg... OMIM:153670
Bleeding Disorder In Hemophilia A Carriers
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed... ORPHA:177926
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Cutis marmorata, Epistaxis, Anorexia, Malabsorption, Periorbital ede... ORPHA:33226
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Portal hypertension, Esophageal varix, Hepatocellular carcinoma, Ecchymosis, Ascites, ... OMIM:619463
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations... ORPHA:276435
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, Limb dystonia, ... ORPHA:71517
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Stroke, Pallor ORPHA:49827
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:614074
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Peripheral Cone Dystrophy
Pallor OMIM:609021
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protei... OMIM:277175
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Darier's sign, Urticaria, De... ORPHA:79456
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Cyanosis, Abdominal pain, Internal hemorrhage, Prolonged prothrom... ORPHA:335
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Bruising susceptibility, Petechiae, Mitral valve prolapse OMIM:225310
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Stroke, Ischemic
Stroke OMIM:601367
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Fetal Gaucher Disease
Neonatal death, Death in infancy, Stillbirth, Intracranial hemorrhage ORPHA:85212
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... ORPHA:85446
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Polyhydramnios, Edema, Cardiomegaly, Gastrointestinal dysmotility, Gastroe... ORPHA:363705
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... ORPHA:98763
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Jaundice, Gastrointestinal hemorrhage, Malabsorption ORPHA:79301
Congenital Factor Xi Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Solitary Rectal Ulcer Syndrome
Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic constipation, Ten... ORPHA:209964
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Progres... OMIM:261640
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Anti-Glomerular Basement Membrane Disease
Vasculitis, Purpura ORPHA:375
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pericarditis, Myocardial ... ORPHA:91139
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Gastritis, Myocarditis, Xeros... ORPHA:809
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Nausea and vomiting, Edema, Anorexia, Abdominal pain, Angioedema, Va... ORPHA:761
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Depression, Bradykinesia, Dystonia, Mental deterioration, Memory impairment, Pa... ORPHA:240085
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... ORPHA:624
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Edema, Impaired platelet adhesion, Diarrhea, Intracranial... ORPHA:324636
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Memory impairment OMIM:614018
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Dyspepsia, Intestinal obs... ORPHA:85450
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Ehlers-Danlos Syndrome, Classic Type, 2
Bruising susceptibility, Fragile skin OMIM:130010
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Vasculitis in the skin, Petechiae, Purpura OMIM:620296
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg... OMIM:616050
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Spastic dysarthria, Hypercholesterolemia, Ataxia, Hypoalbuminemia ORPHA:94124
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... ORPHA:160148
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Irritability, Dystonia, Thrombocytopenia OMIM:615010
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Cutis marmorata, Epistaxis, Abdom... ORPHA:727
Thrombocytopenia 5
Bruising susceptibility, Epistaxis, Petechiae OMIM:616216
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Impaired platelet aggregation, Petechiae OMIM:187800
Crigler-Najjar Syndrome Type 1
Tremor, Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa... OMIM:614307
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Cyanosis, Edema, Abdominal distention, Jaundice, Gastrointestinal... ORPHA:90051
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Bruising susceptibility, Gastroesophageal reflux ORPHA:75497
Primary Myelofibrosis
Abnormal bleeding, Portal hypertension, Anorexia, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi... OMIM:617145
Aicardi-Goutieres Syndrome 1
Feeding difficulties in infancy, Vasculitis, Erythema, Multiple gastric polyps, Cardiomyopathy, P... OMIM:225750
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Menorrhagia, Epistaxis OMIM:616176
Gaucher Disease, Perinatal Lethal
Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Hepatic failure, Dysphagia, Neonatal dea... OMIM:608013
Immunodeficiency, Common Variable, 6
Purpura OMIM:613496
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... ORPHA:464321
Lujo Hemorrhagic Fever
Shock, Generalized edema, Facial edema, Periorbital edema, Excessive bleeding after a venipunctur... ORPHA:319213
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Ataxia, Poor motor coordination, Reduc... ORPHA:363400
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis OMIM:613554
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... OMIM:620300
Pituitary Adenoma 4, Acth-Secreting
Edema, Poor wound healing, Facial erythema, Hypertension, Ecchymosis, Bruising susceptibility, St... OMIM:219090
Tufted Angioma
Petechiae, Purpura ORPHA:1063
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... OMIM:603553
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Meningococcal Meningitis
Shock, Projectile vomiting, Anorexia, Hypotension, Petechiae, Purpura ORPHA:33475
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Edema, Abdominal pain, Malabsorption, Diarrhea, Dyspha... ORPHA:2070
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... ORPHA:97339
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Prema... OMIM:617341
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Limb joint contracture, Elevated circulating creati... OMIM:617013
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Colitis, Enterocolitis, Crohn's disease OMIM:613148
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, I... OMIM:233910
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy ORPHA:103910
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag... ORPHA:99827
Optic Atrophy 1
Pallor OMIM:165500
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Poly... OMIM:243150
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Elevate... OMIM:612953
Hemophilia B
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Persistent bleeding after trauma OMIM:306900
Encephalopathy, Ethylmalonic
Death in infancy, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae OMIM:602473
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Gray Platelet Syndrome
Abnormal bleeding, Bruising susceptibility, Epistaxis ORPHA:721
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Bruising susceptibility, Persistent bleeding after trauma, Epistaxis, Petechiae OMIM:300367
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Chronic otitis media ORPHA:3226
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane... OMIM:209950
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Hypoalbuminemia OMIM:607250
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, T... ORPHA:247585
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... OMIM:226990
Typhoid
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A... ORPHA:99745
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Men... OMIM:254900
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Dementia, Myoclonus,... ORPHA:79263
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Stormorken-Sjaastad-Langslet Syndrome
Purpura ORPHA:3204
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Breath-Holding Spells
Pallor OMIM:607578
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval, Petechiae ORPHA:231111
Shigellosis
Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Dehydration, Bloody d... ORPHA:810
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor OMIM:620158
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... OMIM:617397
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Ab... ORPHA:85443
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Depression, ... OMIM:137440
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... OMIM:617021
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Clonus, Babinski sign, Hypochromic microcytic anemia, Dysmetria, Dysdiadoch... OMIM:301310
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Congenital Sialidosis Type 2
Abnormal EKG, Edema, Telangiectasia, Abnormal heart morphology, Umbilical hernia, Ascites, Petechiae ORPHA:93400
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer... ORPHA:254881
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Dysp... OMIM:619751
Perry Syndrome
Parkinsonism, Tremor, Depression, Weight loss, Dementia, Abnormality of extrapyramidal motor func... ORPHA:178509
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... OMIM:614072
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ... ORPHA:48818
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Myoc... OMIM:159950
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting ORPHA:543
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Colitis, Decreased liver function, Ecchymosis, Bruising susceptibility, Petechiae, Purpura ORPHA:540
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... ORPHA:282166
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash OMIM:609939
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo... ORPHA:507
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Intestinal polyposis, Transient ischemi... ORPHA:774
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Pallor OMIM:613561
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Edema, Diarrhea, Protein-losing enteropathy, Vo... ORPHA:79319
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... OMIM:612716
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Palpebral edema,... ORPHA:93672
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Menkes Disease
Intracranial hemorrhage, Cutis laxa, Death in childhood OMIM:309400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cog... ORPHA:70594
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A... OMIM:619738
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Short attention span, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Flexion contracture, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myoclonus, Mental ... ORPHA:2590
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Abdominal pain, Malabsorption, Diarrh... ORPHA:98850
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Neuroferritinopathy
Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Chorea, Babinski sign, Leg d... ORPHA:157846
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Impaired epinephrine-induced p... OMIM:601709
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the colon, In... ORPHA:2869
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Jaundice, Decreased liver function, Umbilical hernia, Patent foramen ov... OMIM:251290
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal... OMIM:192315
Essential Thrombocythemia
Prolonged bleeding time ORPHA:3318
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemi... OMIM:246700
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Generalized Juvenile Polyposis/Juvenile Polyposis Coli