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
preweaning lethality, incomplete penetrance F2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
tremors F2tm1b(EUCOMM)Hmgu HET Early adult 2.71×10-06
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
increased circulating fructosamine level F2tm1b(EUCOMM)Hmgu HET Early adult 8.59×10-05
decreased lean body mass F2tm1b(EUCOMM)Hmgu HET Early adult 4.18×10-08
decreased bone mineral content F2tm1b(EUCOMM)Hmgu HET Early adult 1.15×10-06
decreased mean corpuscular volume F2tm1b(EUCOMM)Hmgu HET   Early adult 8.99×10-05
decreased exploration in new environment F2tm1b(EUCOMM)Hmgu HET Early adult 1.48×10-08

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

MicroCT E18.5

Embryo reconstruction

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

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
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... 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, 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