Gene Summary

Name:
fermitin family member 3
Synonyms:
Kindlin-3,  C79673

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
hemorrhage Fermt3tm1b(KOMP)Wtsi HOM E15.5 0.00
preweaning lethality, complete penetrance Fermt3tm1b(KOMP)Wtsi HOM   Early adult 0.00
edema Fermt3tm1b(KOMP)Wtsi HOM E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta 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)
Epididymis 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)
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 Not available
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)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
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 Not available
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)
Submandibular gland N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder 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)
Vesicular gland N/A heterozygote Not available
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 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
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%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 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%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 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%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
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%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Sleep Wake

Wake state (bmp file)

5 Images

Eye Morphology

Images Ophthalmoscopy

10 Images

X-ray

XRay Images Forepaw

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

5 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Fermt3 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 Fermt3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormality of thrombocytes, Abnormal bleeding, Extramedullary hematopoiesis, Hepatosp... OMIM:612840

The table below shows human diseases predicted to be associated to Fermt3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising... OMIM:187900
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Moyamoya phenomenon, Cutis marmorata, Abnormal platelet ag... ORPHA:401945
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... OMIM:300367
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic... ORPHA:903
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ... ORPHA:274
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormality of thrombocytes, Abnormal bleeding, Extramedullary hematopoiesis, Hepatosp... OMIM:612840
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... OMIM:617443
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... OMIM:139090
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Osteopetrosis, Autosomal Recessive 4
Petechiae, Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone... OMIM:611490
Lipedema
Edema OMIM:614103
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Autoimmune hemolytic anemia, Petechiae, Syncope, Neut... ORPHA:1959
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced p... OMIM:601399
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Congenital Factor Ii Deficiency
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... ORPHA:325
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Blue Rubber Bleb Nevus
Intestinal bleeding, Arteriovenous malformation, Volvulus, Microcytic anemia, Gastrointestinal in... ORPHA:1059
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Vomiting, Hypersegmentation of neutrophil nuclei, Pancyto... ORPHA:35858
Primary Myelofibrosis
Abnormal bleeding, Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leuk... ORPHA:824
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Shock, Internal hemorrhage, Thrombocytopenia, Prolonged prothro... ORPHA:49566
Immune Dysregulation, Autoimmunity, And Autoinflammation
Gingival bleeding, Epistaxis, Petechiae, Ecchymosis, Anemia OMIM:620514
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Slc35A1-Cdg
Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hypotension, Diarrhea, Bruising suscep... ORPHA:99828
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Abnormal cerebral vascular morphology, Abnormal blee... ORPHA:3318
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Tufted Angioma
Anemia, Purpura, Petechiae, Thrombocytopenia ORPHA:1063
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Anemia, Abnormal bone structure ORPHA:46532
Congenital Factor Xiii Deficiency
Gingival bleeding, Inflammation of the large intestine, Poor wound healing, Prolonged bleeding af... ORPHA:331
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Pallor, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large inte... ORPHA:906
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... OMIM:605735
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Portal hypertension, Petechiae, Splenomegaly, Ecchymosis, Thrombocytopenia, Esophageal... OMIM:619463
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Reduced delayed hypersensitivity, Urticaria, Autoimmune ... OMIM:603909
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... OMIM:616176
Acquired Von Willebrand Syndrome
Normocytic anemia, Aortic valve stenosis, Aortic regurgitation, Hypochromic anemia, Gastrointesti... ORPHA:99147
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Erythema, Angioe... ORPHA:449285
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Splenomegaly, Vasculitis in the skin, Anemia, Purpura OMIM:620296
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Abnormal umbilical stump bleeding, Prolon... OMIM:613235
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Thrombocytopenia 10
Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou... OMIM:620484
Myh9-Related Disease
Giant platelets, Prolonged bleeding time, Bruising susceptibility, Spontaneous, recurrent epistax... ORPHA:182050
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Abnormality of venous ... ORPHA:90064
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Bruising susceptibi... ORPHA:324636
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... ORPHA:3226
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Feeding difficulties OMIM:615085
Idiopathic Aplastic Anemia
Gingival bleeding, Bone marrow hypocellularity, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecch... ORPHA:88
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Thrombocytopenia, Anemia, And Myelofibrosis
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis OMIM:617441
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Sitosterolemia 1
Stomatocytosis, Giant platelets, Abnormal bleeding, Reticulocytosis, Splenomegaly, Coronary arter... OMIM:210250
Alpha-Thalassemia
Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hepa... ORPHA:846
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de... OMIM:614074
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Abnormality of thrombocytes, Purpura ORPHA:3204
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Or... ORPHA:98870
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Hemophilia B
Joint hemorrhage, Poor wound healing, Prolonged bleeding after dental extraction, Spontaneous, re... ORPHA:98879
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Petechiae, Splenomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:294
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Petechiae, Splenomegaly, Thrombocytopenia ORPHA:158029
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ... ORPHA:280779
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... OMIM:615631
Beta-Thalassemia Major
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepato... ORPHA:231214
Aplasia Cutis Congenita
Abnormality of bone mineral density, Erythema, Skin ulcer, Prolonged bleeding time ORPHA:1114
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Bruising susceptibility, Increased circulating IgE lev... OMIM:313900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Petechiae, Limited pronation/supination of forearm, Congenital thrombocytopenia,... OMIM:605432
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia OMIM:273900
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-pos... OMIM:301000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Congestive heart failure, Pallor, Paroxysmal atrial tachycardia, Stroke, Megaloblastic ... ORPHA:49827
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Ven... ORPHA:90308
Aggressive Systemic Mastocytosis
Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Neutropenia, Anorexia, Leukemia, Abdom... ORPHA:98850
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Epiphyseal stippling, Ecchymosis, Prolonge... OMIM:277450
Prolidase Deficiency
Skin ulcer, Splenomegaly, Petechiae, Increased circulating antibody level, Prolonged neonatal jau... OMIM:170100
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Skin ulcer, Gastrointestinal infarctions, Cutis marmorat... ORPHA:91138
Drug-Induced Lupus Erythematosus
Petechiae, Thrombocytopenia, Anemia, Prolonged QTc interval, Pericarditis ORPHA:231111
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Osteomyelitis, Hepa... OMIM:259710
Boutonneuse Fever
Vasculitis, Diarrhea, Leukopenia, Petechiae, Nausea, Abdominal pain, Thrombocytopenia, Increased ... ORPHA:83313
Kasabach-Merritt Phenomenon
Abdominal distention, Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal ly... ORPHA:2330
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Sneddon Syndrome
Livedo, Lymphopenia, Cutis marmorata, Ischemic stroke, Livedo racemosa, Stroke, Livedo reticulari... OMIM:182410
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Sepsis In Premature Infants
Diarrhea, Neutropenia, Abdominal distention, Jaundice, Tachycardia, Purpura, Pallor, Enterocoliti... ORPHA:90051
Gray Platelet Syndrome
Epistaxis, Abnormality of thrombocytes, Bruising susceptibility, Abnormal bleeding, Splenomegaly,... ORPHA:721
Spherocytosis, Type 5
Abnormal leukocyte count, Reticulocytosis, Splenomegaly, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Plethora, Increased circulatin... OMIM:133100
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Pallor, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Ane... ORPHA:300298
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... OMIM:619172
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Neutropenia, Arthritis, Anemia, Purpura OMIM:604250
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Bruising susceptibility, Decreased liver function, Reduced natural killer cell ... ORPHA:540
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Gastrointestin... OMIM:617341
Beta-Thalassemia
Skin ulcer, Microcytic anemia, Hypertrophic cardiomyopathy, Pallor, Splenomegaly, Abnormal hemogl... ORPHA:848
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Mirage Syndrome
Gastroesophageal reflux, Radial club hand, Lymphopenia, Leukopenia, Petechiae, Achalasia, Thrombo... OMIM:617053
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bone mineral density OMIM:620366
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption, Splenomegaly, Osteoporosis, Jaundice ORPHA:79301
Familial Hypofibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:101041
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Familial Dysfibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:98881
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Nausea and vomiting, Splenomegaly, Pet... ORPHA:79477
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Petechiae, Striae distensae, Bruising susceptibility, Joint hypermobility OMIM:225310
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia OMIM:613554
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased liver functio... ORPHA:85450
Tempi Syndrome
Polycythemia, Increased hematocrit, Telangiectasia, Facial erythema, Increased circulating IgG le... ORPHA:284227
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture, Osteopetrosis, Th... OMIM:259700
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Anti-Glomerular Basement Membrane Disease
Anemia, Vasculitis, Purpura, Arthritis ORPHA:375
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Striae distensae, Transient ischemic attack, Cerebral ischemia... ORPHA:36382
Pseudo-Torch Syndrome 2
Petechiae, Bradycardia, Thrombocytopenia, Cerebral hemorrhage, Patent ductus arteriosus OMIM:617397
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal gastrointestinal tract morphology, Hip contracture, Intestinal perforation, Gastrointest... ORPHA:464321
Erythrocytosis, Familial, 2
Hypotension, Increased hematocrit, Varicose veins, Increased red blood cell mass, Plethora, Incre... OMIM:263400
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprot... OMIM:603585
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Osteolysis, Leukopenia, Joint s... ORPHA:809
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Leishmaniasis
Abnormal bleeding, Skin ulcer, Pancytopenia, Leukopenia, Pallor, Splenomegaly, Abnormal macrophag... ORPHA:507
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Polycythemia Vera
Gingival bleeding, Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Po... ORPHA:729
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Portal hypertension, S... ORPHA:64743
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Breath-Holding Spells
Iron deficiency anemia, Pallor, Cyanosis OMIM:607578
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Waldenström Macroglobulinemia
Normocytic anemia, Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrha... ORPHA:33226
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... ORPHA:231401
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonat... ORPHA:85212
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Splenomegaly, Petechiae, Multiple gastric polyps, Feeding d... OMIM:225750
Livedoid Vasculopathy
Poor wound healing, Polycythemia, Skin ulcer, Macular purpura, Pancytopenia, Ischemic stroke, Leu... ORPHA:542643
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Recurrent fractures, Feeding difficulties OMIM:620368
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Dermatographic urticaria, Diarrhea, Vomiting, Generaliz... ORPHA:79456
Schnitzler Syndrome
Vasculitis, Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density, Increa... ORPHA:37748
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Hatipoglu Immunodeficiency Syndrome
Poor wound healing, Premature graying of hair, Dry skin, Pancytopenia, Petechiae, Anemia, Feeding... OMIM:620331
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Fractures of the long bones, Hepatosplenom... ORPHA:464329
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Vascular d... ORPHA:2924
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Pallor, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean c... OMIM:615234
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
Acanthocytosis OMIM:607236
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Dysphagia, Prolonged bleeding time, Pulmonic stenosis ORPHA:638
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Erythema, Diarrhea, Limitation of joint mobility, Recurr... ORPHA:343
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Cutaneous Small Vessel Vasculitis
Vasculitis, Erythema, Cutis marmorata, Purpura, Urticaria ORPHA:889
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Myelofibrosis, Myeloprolife... OMIM:254450
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Abnormal bleeding, Anemia of inadequate productio... ORPHA:98826
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Skin ulcer, Subcutaneous hemorrhage, V... ORPHA:743
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Hemorrhagic Fever-Renal Syndrome
Diarrhea, Abdominal pain, Tachycardia, Shock, Palpitations, Ecchymosis, Anemia, Hypotension, Vomi... ORPHA:340
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pallor, Splenomegaly, Abnormal hemoglobin, Anemia, Pericarditis ORPHA:163596
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Excessive bleeding after a venipunc... ORPHA:99826
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Inflammation of the large intestine, Bruising suscept... OMIM:203300
Developmental And Epileptic Encephalopathy 50
Diarrhea, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia OMIM:616457
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Meningococcal Meningitis
Hypotension, Shock, Stiff neck, Petechiae, Stroke, Anorexia, Purpura, Projectile vomiting ORPHA:33475
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Poor wound healing, Prolonged ble... ORPHA:465
Epidermolysis Bullosa Simplex 5A, Ogna Type
Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Congenital Syphilis
Periostitis, Diarrhea, Extramedullary hematopoiesis, Hepatosplenomegaly, Palmoplantar scaling ski... ORPHA:499009
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, ... OMIM:185070
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Abnormal bleeding, Vomiting, Lymphopenia, Leukopenia, Incr... ORPHA:319218
Isovaleric Acidemia
Bone marrow hypocellularity, Vomiting, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocy... OMIM:243500
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Syncope, Orthostatic hypotension, Bruising susceptibility OMIM:143850
Hellp Syndrome
Hypotension, Vomiting, Poor wound healing, Microangiopathic hemolytic anemia, Cerebral hemorrhage... ORPHA:244242
Abetalipoproteinemia
Acanthocytosis OMIM:200100
Pseudo-Torch Syndrome 1
Decreased liver function, Petechiae, Splenomegaly, Thrombocytopenia, Jaundice, Patent ductus arte... OMIM:251290
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Bone cyst, ... ORPHA:85446
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal bleeding, Bruising susceptibility, Pancytopenia, Decreased ... ORPHA:101096
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Sideroblastic anemia, Pallor, Dysphagia OMIM:613561
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bleeding, Palpitations, L... ORPHA:86839
Hereditary Spherocytosis
Spontaneous hemolytic crises, Restrictive cardiomyopathy, Increased mean corpuscular hemoglobin c... ORPHA:822
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Gaucher Disease, Perinatal Lethal
Hepatic failure, Arthrogryposis multiplex congenita, Hepatosplenomegaly, Splenomegaly, Petechiae,... OMIM:608013
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long ... OMIM:166600
Cinca Syndrome
Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Nausea and vomiting, Reduced bone minera... ORPHA:1451
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Stillbirth, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomega... OMIM:259720
Complement Component 4A Deficiency
Vasculitis, Purpura, Cutaneous photosensitivity OMIM:614380
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency, Warfarin-induced... ORPHA:745
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Beta-Thalassemia Intermedia
Osteopenia, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased live... ORPHA:231222
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Osteopenia, Aplastic anemia, Premature ... OMIM:613990
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Sneddon Syndrome
Vascular skin abnormality, Arterial stenosis, Cutis marmorata, Intracranial hemorrhage, Hypertension ORPHA:820
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Smal... ORPHA:329971
X-Linked Sideroblastic Anemia
Anemia, Pallor, Splenomegaly ORPHA:75563
Congenital Factor Xi Deficiency
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac... ORPHA:329
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the spleen, Decreased proportion of CD4-positive help... ORPHA:543
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormal rectum morphology, Episodic abdominal pain, Hamartomatous p... ORPHA:251992
Propionic Acidemia
Vomiting, Cardiomyopathy, Pancytopenia, Cerebellar hemorrhage, Feeding difficulties in infancy, C... OMIM:606054
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage, Stroke OMIM:602248
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Gastrointestinal carcinoma, Neopla... ORPHA:2869
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Encephalopathy, Ethylmalonic
Chronic diarrhea, Acrocyanosis, Petechiae, Feeding difficulties OMIM:602473
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Neutrophilia, Tachycardia, Abdomina... ORPHA:98849
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Purpura, Schistocytosis, Thrombocyt... OMIM:235400
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... OMIM:300751
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Vomiting, Dilatation of the cerebral artery, T... ORPHA:284388
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Ethylmalonic Encephalopathy
Diarrhea, Acrocyanosis, Petechiae ORPHA:51188
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Bruising susceptibility, Joint hypermobility, Stroke, Arrhythmia, Pr... ORPHA:230839
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Cerebral hemorrhage, Anemia, Hypertension OMIM:618886
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... OMIM:604928
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Intestinal obstruction, ... ORPHA:44890
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Pallor, Reticulocytosis, Anorexia, Decreased mean corpuscular volume... OMIM:611590
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Volvulus, Subcutaneous hemorrhage,... ORPHA:335
Simple Cryoglobulinemia
Cold urticaria, Chronic lymphatic leukemia, Abdominal pain, Purpura, Vasculitis, Gastrointestinal... ORPHA:91139
Abeta Amyloidosis, Iowa Type
Stroke, Dysphagia, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Rothmund-Thomson Syndrome, Type 3
Anemia, Osteopenia, Anisopoikilocytosis OMIM:615789
Preeclampsia/Eclampsia 1
Hypertension, Edema OMIM:189800
Rhabdoid Tumor
Nausea and vomiting, Neoplasm of the liver, Internal hemorrhage, Thrombocytopenia, Anemia, Abdomi... ORPHA:69077
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormality of thrombocytes, Abnormal ce... ORPHA:758
Mgat2-Cdg
Decreased circulating IgG level, Osteopenia, Gastroesophageal reflux, Abnormal bleeding, Gastropa... ORPHA:79329
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ... OMIM:613839
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Gastroesophageal reflux, Rickets, Abnormality of subcutaneous fat tissue, Osteomalaci... ORPHA:1901
Autosomal Recessive Malignant Osteopetrosis
Bruising susceptibility, Pallor, Splenomegaly, Pulmonary artery stenosis, Pulmonary arterial hype... ORPHA:667
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Iga Nephropathy, Susceptibility To, 1
Purpura, Hypertension OMIM:161950
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di... OMIM:259730
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Arrhythmia, Abdominal pain, Const... ORPHA:99745
Desmoid Tumor
Gastrointestinal hemorrhage, Limitation of joint mobility, Malabsorption, Intestinal polyposis, I... ORPHA:873
Dentinogenesis Imperfecta
Bruising susceptibility, Knee joint hypermobility, Joint hypermobility, Finger joint hypermobilit... ORPHA:49042
Lujo Hemorrhagic Fever
Hypotension, Diarrhea, Vomiting, Shock, Lymphopenia, Leukopenia, Stiff neck, Leukocytosis, Excess... ORPHA:319213
Hypophosphatasia, Infantile
Unossified vertebral bodies, Vomiting, Stillbirth, Increased susceptibility to fractures, Decreas... OMIM:241500
Complement Component 2 Deficiency
Purpura OMIM:217000
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Nausea and vomiting, Abdominal pa... ORPHA:1414
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Pancytopenia, Nausea and vomiting, Neutrophilia, Anorexia, Tachycard... ORPHA:99827
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Stercoral ulcer, Chronic constipation, Rectal prolapse, Episodic abdomina... ORPHA:209964
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Transient ischemic attack, Reticulocytosis, Stroke, Schistocyt... OMIM:274150
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Pancytopenia, Pallor, Nausea and vomiting, Eosinophilia, Megal... ORPHA:90045
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Persistent fetal circulation, Arrhythmia, Finger joi... ORPHA:363705
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Tachycardia ORPHA:90037
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Shigellosis
Microangiopathic hemolytic anemia, Anorexia, Abdominal pain, Purpura, Intestinal perforation, Blo... ORPHA:810
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Thrombocytopenia, Poikilocytosis, Anemia, Hypochromia, ... OMIM:616959
Al Amyloidosis
Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensat... ORPHA:85443
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Bleeding Disorder In Hemophilia A Carriers
Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, Prolonged bleeding ... ORPHA:177926
Relapsing Fever
Epistaxis, Hypotension, Diarrhea, Abnormal bleeding, Vomiting, Leukopenia, Leukocytosis, Jaundice... ORPHA:91547
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Erythema, Skin ulcer, Diarrhea, Congestive he... ORPHA:727
Hereditary Elliptocytosis
Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticul... ORPHA:288
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Choreoacanthocytosis
Acanthocytosis OMIM:200150
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Dysphag... ORPHA:136
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Pancytopenia, Hepatosplenomegaly, Cutis marmorata, Livedo racemosa, Renal artery ane... OMIM:615688
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Gastroesophageal reflux, Congestive heart failure, Hypertrophic cardiomyopathy, Trans... ORPHA:183
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Diarrhea, Premature graying of hair, Malabsorption, Sub... OMIM:277175
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Primary Release Disorder Of Platelets
Abnormal bleeding, Bruising susceptibility, Menorrhagia, Spontaneous, recurrent epistaxis OMIM:176630
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... OMIM:185000
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Polycythemia, Facial telangiectasia... OMIM:600376
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Acute hepatic fail... ORPHA:99901
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Elliptocytosis 1
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Lathosterolosis
Hepatic failure, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis ORPHA:46059
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Prolonged bleeding time, Bruising susceptibility, Decreased calvarial ossification, J... OMIM:616229
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Abetalipoproteinemia
Abnormal bleeding, Acanthocytosis, Reticulocytosis, Prolonged prothrombin time, Anemia ORPHA:14
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Pathologic fracture, Iron deficiency anemia, Thrombocytopenia, Rec... OMIM:112200
Lathosterolosis
Osteoporosis, Foam cells with lamellar inclusion bodies, Anisopoikilocytosis OMIM:607330
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Osteolysis, Erythema ORPHA:158014
Thrombocytopenia 2
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... OMIM:188000
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrhea, Reduced natur... OMIM:616050
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... OMIM:231095
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Pallor, An... OMIM:301310
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence... ORPHA:231226
Letterer-Siwe Disease
Abdominal distention, Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice... OMIM:246400
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Iron deficiency anemia, Heart murmur ORPHA:99931
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Toxic Epidermal Necrolysis
Erythema, Gastrointestinal hemorrhage, Skin ulcer, Acute hepatic failure, Malabsorption, Nausea a... ORPHA:537
Methanol Poisoning
Diarrhea, Vomiting, Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage... ORPHA:31825
Macs Syndrome
Dilation of Virchow-Robin spaces, Bruising susceptibility, Recurrent aphthous stomatitis, Redunda... OMIM:613075
Congenital Sialidosis Type 2
Cherry red spot of the macula, Abnormal EKG, Hepatosplenomegaly, Petechiae, Telangiectasia ORPHA:93400
Idiopathic Hypereosinophilic Syndrome
Angioedema, Hepatosplenomegaly, Cutis marmorata, Feeding difficulties in infancy, Neutrophilia, A... ORPHA:3260
Juvenile Polyposis Of Infancy
Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Diarrhea, Subc... ORPHA:79076
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Stevens-Johnson Syndrome
Erythema, Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Dysp... ORPHA:36426
Bacterial Toxic-Shock Syndrome
Hypotension, Diarrhea, Vomiting, Septic arthritis, Shock, Osteomyelitis, Ecchymosis, Increased ci... ORPHA:36234
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Fetal Parvovirus Syndrome
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:295
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Vomiting, Congestive heart failure, Ischemic stroke, Leukocytosis, Cerebral ischemia, ... ORPHA:90065
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Anorexia ORPHA:79283
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting, Splenomegaly, Pallor, Hemolytic anemia ORPHA:56425
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Atherosclerosis, Cutis laxa, Prolonged prothrombin time OMIM:610842
Chylomicron Retention Disease
Acanthocytosis ORPHA:71
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, S... ORPHA:71275
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Pallor, Reticulocytosis, Splenomeg... OMIM:266200
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Ehlers-Danlos Syndrome, Classic Type, 2
Fragile skin, Bruising susceptibility, Generalized joint hypermobility, Joint hypermobility OMIM:130010
Mcleod Syndrome
Acanthocytosis, Splenomegaly OMIM:300842
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic le... ORPHA:90033
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage ORPHA:98880
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:600462
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Cerebral hemorrhage, Hepatosplenomegaly, Osteomyelitis, Complete... OMIM:301081
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Anorexia, Malabsorption, Splenomegaly, Arthri... ORPHA:3452
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Dry skin, Increased HbA2 hemoglobin, Increased bone mineral density, De... OMIM:616943
Primary Familial Polycythemia
Epistaxis, Abnormal bleeding, Polycythemia, Abnormal hemoglobin, Abdominal pain ORPHA:90042
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Skin ulcer, Venous insufficiency, Arrhythmia, Int... ORPHA:624
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality