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Gene: Gsn MGI:95851

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
gelsolin
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyloidosis, Finnish Type
Decreased heart rate variability, Orthostatic hypotension, Cardiomyopathy OMIM:105120
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Cardiomyopathy ORPHA:85448

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Dysplasia Of Head Of Femur, Meyer Type
Congenital hip dislocation, Limited hip movement, Leukocytosis, Multicentric femoral head ossific... ORPHA:168621
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormality of thrombocytes, Abnormal bleeding, Extramedullary hematopoiesis, Hepatosp... OMIM:612840
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Abnormal pelvic girdle... OMIM:166600
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Pulmonary embolism, Myocardial infarction ORPHA:3325
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Osteomyelitis, Hepa... OMIM:259710
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De... OMIM:611497
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Immunodeficiency 108 With Autoinflammation
Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuc... OMIM:260570
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... OMIM:607634
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Petechiae, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone... OMIM:611490
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Osteopetrosis, Autosomal Recessive 1
Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture... OMIM:259700
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Brachydactyly... OMIM:266265
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Osteopetrosis, Autosomal Recessive 8
Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia OMIM:615085
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bone mineral density OMIM:620366
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Mueller-Weiss Syndrome
Tibiofibular diastasis, Sclerosis of foot bone, Tibial torsion, Abnormality of the os naviculare ... ORPHA:566943
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Syncope, Pulmonary arterial hypertension, Incre... OMIM:615396
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Slc35A1-Cdg
Pneumonia, Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abn... ORPHA:238459
Aplasia Cutis Congenita
Abnormality of bone mineral density, Finger syndactyly, Toe syndactyly, Prolonged bleeding time ORPHA:1114
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni... ORPHA:811
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising... OMIM:187900
Immunodeficiency 53
Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p... OMIM:617585
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... OMIM:139090
Isolated Osteopoikilosis
Discoid lupus rash, Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mob... ORPHA:166119
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology ORPHA:1522
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands OMIM:615198
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperd... OMIM:613255
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Radial deviation of finger, Clinodactyly, Thrombocytopenia, Prolonged bleeding... OMIM:188025
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... ORPHA:3226
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... ORPHA:3152
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Leukocyt... ORPHA:3318
Myh9-Related Disease
Nephritis, Giant platelets, Prolonged bleeding time, Bruising susceptibility, Spontaneous, recurr... ORPHA:182050
Hyperostosis Corticalis Generalisata
Abnormal cortical bone morphology, Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal u... ORPHA:3416
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Flared metaphysis, Cranial hyperostosis, Hepatosplenomegaly, Pancyt... OMIM:259720
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... ORPHA:1879
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Abnormality of neuronal migration, Abnormal limb... ORPHA:2204
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia, Clubbing, Clubbing of fingers OMIM:162700
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet ... OMIM:617443
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Recurrent pneumonia, Decrea... OMIM:612301
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati... OMIM:618476
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal fingertip morphology, Epiphyseal dysplasia, High iliac ... ORPHA:79106
Osteopathia Striata-Cranial Sclerosis Syndrome
High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis, Spina bifida occulta,... ORPHA:2780
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Skin rash, Arthritis, Anemia, Increased bone mineral density, Increas... ORPHA:37748
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Patellar hypoplasia, Elbow flexion contra... ORPHA:3132
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Osteoporosis, Ma... ORPHA:98848
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large inte... ORPHA:906
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Diaphysea... OMIM:231095
Hermansky-Pudlak Syndrome 9
Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, El... OMIM:265450
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di... OMIM:259730
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... ORPHA:970
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Hip dislocation, Rickets, Osteomalacia, Joint stiffness, Avascular necrosis of the ca... ORPHA:1901
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Clinodactyly of the 5th finger, Osteopetrosis OMIM:617306
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Prolonged bleeding time, Bruising susceptibility, Joint hypermobility, Decreased calv... OMIM:616229
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced p... OMIM:601399
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Splenomegaly, Abnormality of neuronal migration, Oste... ORPHA:35107
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, ... ORPHA:210110
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma ORPHA:542592
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Deviation of finger, Bruisin... ORPHA:903
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Osteolysis, Leukopenia, Joint stiffness, Splenomegaly, Skin rash, My... ORPHA:809
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Osteomye... ORPHA:53
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr... OMIM:608233
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Skin rash, Prolonged bleeding time ORPHA:1059
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pathologic fracture, Increased proportion of CD25+ mast cells, Hepat... ORPHA:98850
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Increased ... ORPHA:77297
Congenital Disorder Of Glycosylation, Type Iif
Clinodactyly, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, ... OMIM:603585
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615343
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Bruising susceptibility, Abnormal metaphysis morphology, Splenomeg... ORPHA:667
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Increased circulating IgE level, Abnormal... OMIM:301000
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ... ORPHA:2658
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod... ORPHA:1310
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Pyle Disease
Genu valgum, Limited elbow extension, Metaphyseal widening, Metaphyseal dysplasia, Thin bony cort... OMIM:265900
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Short t... ORPHA:90650
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de... OMIM:614074
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Pulmonary Hypertension, Primary, 2
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... OMIM:615342
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Lymphop... OMIM:618935
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Eczematoid dermatitis, Abnormal tibia morphology, Joint st... ORPHA:1525
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys... ORPHA:93284
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Congenital Factor Ii Deficiency
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... ORPHA:325
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ... ORPHA:274
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... OMIM:605735
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Increa... OMIM:209950
Dentinogenesis Imperfecta
Bruising susceptibility, Joint hypermobility, Knee joint hypermobility, Finger joint hypermobilit... ORPHA:49042
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Ck Syndrome
Polymicrogyria, Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility... OMIM:300831
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ... ORPHA:2635
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure OMIM:178400
Diastrophic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Camptodactyly of finger, Short finger, ... ORPHA:628
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, ... OMIM:214500
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Sitosterolemia 1
Stomatocytosis, Giant platelets, Abnormal bleeding, Reticulocytosis, Splenomegaly, Episodic hemol... OMIM:210250
Gorham-Stout Disease
Osteopenia, Pathologic fracture, Osteomyelitis, Cortical irregularity, Abnormal femur morphology,... ORPHA:73
Osteogenesis Imperfecta, Type Xxii
Slender long bone, Bowing of the long bones, Pseudoarthrosis, Thin bony cortex, Multiple prenatal... OMIM:619795
Melorheostosis
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... ORPHA:2485
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis, Short long bone, Flared elbow metaphyses ORPHA:1423
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Abnormal cortical bone ... ORPHA:2097
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Abnormality of neutrophil physiology, Periodontitis, Hemophagocytos... ORPHA:167
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Abno... ORPHA:324636
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility, Recurrent aphthous stomatitis, Joint hypermobil... OMIM:613075
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai... OMIM:613470
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Internal hemorrhage, Prolonged bleeding time ORPHA:90308
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... ORPHA:85184
Pachydermoperiostosis
Small hand, Clubbing of toes, Limitation of joint mobility, Abnormal epiphysis morphology, Eczema... ORPHA:2796
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... OMIM:616943
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Osteopetrosis, Thrombocytopenia, Elliptocy... ORPHA:2785
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Delayed patellar ossification, Abnormal femoral neck/head morphology, Abnormal bo... ORPHA:163649
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Pulmonary Hypertension, Primary, 5
Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventricular failure OMIM:265400
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Mgat2-Cdg
Decreased circulating IgG level, Osteopenia, Abnormal bleeding, Impaired lymphocyte transformatio... ORPHA:79329
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... OMIM:144750
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin rash, Thromb... OMIM:618963
Cinca Syndrome
Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Pur... ORPHA:1451
Fixed Subaortic Stenosis
Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit... ORPHA:3092
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Abnormal cortical ... ORPHA:1486
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary venous hype... ORPHA:75249
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... OMIM:619752
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Increased suscept... ORPHA:98849
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Femoral bowing, Fibular bowing, Tibi... OMIM:600081
Chondrodysplasia, Blomstrand Type
Flared metaphysis, Generalized osteosclerosis, Advanced ossification of carpal bones, Squared ili... OMIM:215045
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperostosis OMIM:176920
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension OMIM:234810
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyp... ORPHA:89936
Osteogenesis Imperfecta, Type Xiii
Wide distal femoral metaphysis, Recurrent fractures, Femoral bowing, Wide pubic symphysis, Joint ... OMIM:614856
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism ORPHA:745
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... OMIM:619172
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of f... OMIM:616738
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Osteomy... OMIM:306400
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Pseudohypoparathyroidism Type 1A
Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica... ORPHA:79443
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Br... OMIM:112250
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... OMIM:300554
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Abnormal metaphysis m... ORPHA:2484
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Cerebral hemorrha... OMIM:301081
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Hypophosphatemic ric... OMIM:241530
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophilia, ... OMIM:612852
Atrial Septal Defect 9
Pulmonary arterial hypertension OMIM:614475
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Abnormal cortical bone morphology, Pachygyria ORPHA:2512
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Oste... ORPHA:289157
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Congestive heart failure OMIM:619751
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... OMIM:203300
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism ORPHA:743
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Pulmonary arterial hypertension, Mucosal telangiectasiae ORPHA:220402
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short distal phalanx of finger, Epistaxis, Abnormal bleeding, Bruising susceptibility, Epiphyseal... OMIM:277450
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Femor... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Femor... OMIM:277440
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Camurati-Engelmann Disease
Bone marrow hypocellularity, Sclerosis of skull base, Genu valgum, Cortical thickening of long bo... OMIM:131300
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Transient ischemic attack, Abnormal heart valve physiolog... ORPHA:464343
Dysosteosclerosis
Short diaphyses, Osteopenia, Broad femoral neck, Flared metaphysis, Sclerosis of hand bone, Scler... OMIM:224300
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mineral density, ... ORPHA:1782
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Periapical tooth abscess, Finger clinodactyly ORPHA:3352
Spastic Paraplegia Type 2
Pulmonary embolism ORPHA:99015
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Congestive heart fai... ORPHA:2414
Relapsing Fever
Neutrophilia, Epistaxis, Abnormal bleeding, Leukopenia, Leukocytosis, Thrombocytopenia, Prolonged... ORPHA:91547
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage ORPHA:624
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... ORPHA:99104
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Noonan Syndrome
Osteopenia, Abnormal bleeding, Juvenile myelomonocytic leukemia, Bruising susceptibility, Abnorma... ORPHA:648
Congenital Gerbode Defect
Elevated right atrial pressure, Right ventricular failure, Holosystolic murmur, Tricuspid regurgi... ORPHA:99095
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... ORPHA:3287
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Cortical subperiosteal resorption of humeral metaphys... ORPHA:94089
Dysostosis, Stanescu Type
Abnormal epiphysis morphology, Massively thickened long bone cortices, Bowing of the long bones, ... ORPHA:1798
Pulmonary Arteriovenous Malformation
Epistaxis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations, Hemothorax, Ischemic st... ORPHA:2038
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... OMIM:604928
Hughes-Stovin Syndrome
Vasculitis, Pulmonary arterial hypertension, Pulmonary embolism ORPHA:228116
Poems Syndrome
Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Metaphysea... ORPHA:2905
Psoriasis 14, Pustular
Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Cholangitis OMIM:614204
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... ORPHA:829
Spondylometaphyseal Dysplasia, Pagnamenta Type
Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony cortex OMIM:619638
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Pulmonary hemorrhage, Th... OMIM:619644
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Short humerus, Lateral femoral bowing, Bowing of the ... OMIM:239000
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Pycnodysostosis
Coronal craniosynostosis, Small hand, Short finger, Hypoplastic iliac wing, Hepatosplenomegaly, I... ORPHA:763
Sengers Syndrome
Hypertrophic cardiomyopathy, Cardiac arrest, Pulmonary arterial hypertension, Sudden cardiac death OMIM:212350
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Undetectable visual evoked potentials, Tricuspid regurgitation, Pulm... OMIM:619051
Interstitial Lung Disease 2
Pulmonary arterial hypertension OMIM:178500
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Generalized oste... OMIM:617952
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Cerebral hemorrhage, Leukocytosis, Splenomegal... OMIM:263300
Erdheim-Chester Disease
Abnormal epiphysis morphology, Osteomyelitis, Skin rash, Anemia, Increased bone mineral density, ... ORPHA:35687
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... ORPHA:2307
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Pathologic fracture, Abnormal tibia morphology, Abnormal morphology of the... ORPHA:249
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Thin bony cortex, Coxa valga OMIM:230600
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Trichothiodystrophy
Osteopenia, Increased mean corpuscular hemoglobin concentration, Eczematoid dermatitis, Panhypoga... ORPHA:33364
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Celiac Disease, Susceptibility To, 1
Rickets, Eczematoid dermatitis, Decreased circulating IgA level, Recurrent aphthous stomatitis, M... OMIM:212750
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension OMIM:106700
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension ORPHA:1164
Gaucher Disease
Gingival bleeding, Pancytopenia, Increased circulating antibody level, Polyclonal elevation of Ig... ORPHA:355
Acquired Purpura Fulminans
Macular purpura, Skin rash, Internal hemorrhage, Thrombocytopenia, Prolonged prothrombin time, In... ORPHA:49566
Kenny-Caffey Syndrome, Type 2
Anemia, Increased bone mineral density, Thickened cortex of long bones, Abnormality of the medull... OMIM:127000
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Skin rash, Infectio... OMIM:603553
Alg12-Cdg
Recurrent pneumonia, Sandal gap, Pachygyria, Abnormal circulating IgM level, Overlapping fingers,... ORPHA:79324
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, Increased ci... OMIM:617099
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Foxp1 Syndrome
Pulmonary arterial hypertension, EEG abnormality ORPHA:391372
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Eczematoid dermatitis, Hepatitis, Increased circ... OMIM:620565
Idiopathic Aplastic Anemia
Gingival bleeding, Bone marrow hypocellularity, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecch... ORPHA:88
Acquired Von Willebrand Syndrome
Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Bruising susceptib... ORPHA:99147
Pmm2-Cdg
Osteopenia, Aspiration pneumonia, Multiple joint contractures, Joint hypermobility, Impaired neut... ORPHA:79318
Osteogenesis Imperfecta, Type X
Osteopenia, Recurrent pneumonia, Genu valgum, Fibular bowing, Tibial bowing, Joint hypermobility,... OMIM:613848
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic dermal infiltra... ORPHA:293173
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Coarse metaphyseal trabecularization, Flared metaphysis, Thickened cortex of long bones, Cephaloh... OMIM:620558
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Increased circulating I... OMIM:260920
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Abnormal bleeding, Leukopenia, Thrombocytopenia, Neutropenia, Prolonged prot... OMIM:616271
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Increased circulating antibody... ORPHA:77261
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... OMIM:613426
Sialuria
Long hallux, Hepatosplenomegaly, Joint hypermobility, 2-3 toe syndactyly, Prolonged prothrombin time ORPHA:3166
Pycnodysostosis
Aplastic clavicle, Brachydactyly, Narrow iliac wing, Increased bone mineral density, Osteolytic d... OMIM:265800
Autoimmune Hypoparathyroidism
Conjunctivitis, Increased bone mineral density, Chronic mucocutaneous candidiasis ORPHA:36913
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Short thumb, Camptodactyly of finger, Carpal synostosis, Preaxial pol... ORPHA:90652
Pneumocystosis
Interstitial pneumonitis, Increased circulating antibody level, Acute infectious pneumonia, Abnor... ORPHA:723
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block, EEG abnormality OMIM:617021
Classical Ehlers-Danlos Syndrome
Osteopenia, Hip dislocation, Bruising susceptibility, Generalized joint hypermobility, Ecchymosis... ORPHA:287
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia, Prolonged prothrombin time, Metaphyseal widenin... OMIM:617941
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension OMIM:300887
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Gen... ORPHA:3206
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... OMIM:601005
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension OMIM:619059
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Rickets, Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... OMIM:274000
Osteogenesis Imperfecta
Abnormal tibia morphology, Genu valgum, Decreased skull ossification, Bowing of the long bones, D... ORPHA:666
Oculodentodigital Dysplasia
Toe syndactyly, Finger syndactyly, Clinodactyly, Camptodactyly of finger, Preaxial hand polydacty... ORPHA:2710
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension OMIM:619064
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Osteopoikilosis, Clinodactyly of the 5th finger ORPHA:94063
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Pulmonary embolism OMIM:226300
Werner Syndrome
Small hand, Joint stiffness, Osteoporosis, Rocker bottom foot, Increased bone mineral density ORPHA:902
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Abnormal epiphysis morphology, Flar... ORPHA:50945
Cleidocranial Dysplasia 1
Aplastic clavicle, Hypoplastic scapulae, Hypoplastic iliac wing, Cone-shaped epiphyses of the pha... OMIM:119600
Hereditary Hemorrhagic Telangiectasia
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Tongue telangiectasia, Congestive hea... ORPHA:774
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension ORPHA:90060
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Leukopenia, Hypersplenism, Splenomegaly, Thromboc... ORPHA:64743
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Melena, Bruising susceptibility, Petechiae, Persistent bl... OMIM:306900
Dent Disease
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae... ORPHA:1652
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Abnormal epiphysis morphology, Joint stiffness, Protrusio acetabuli... ORPHA:800
Meconium Aspiration Syndrome
Pulmonary insufficiency, Pulmonary arterial hypertension, Abnormal heart rate variability ORPHA:70588
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca... ORPHA:79444
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Thrombocytopenia, Prolonged ... OMIM:267700
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints, Hepatosplenome... ORPHA:3260
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Elevated pulmonary artery pressure, Right ventricular failure, Hemot... ORPHA:199241
Frank-Ter Haar Syndrome
Acne, Osteopenia, Flared metaphysis, Cortical irregularity, Bowing of the long bones, Prominent c... OMIM:249420
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis, Clinodactyly of the 5th finger, Camptodactyly of finger ORPHA:2135
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Purpura,... ORPHA:1304
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism ORPHA:567548
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Leukocytosis, Acute infectious pneumonia, Neutrophilia ORPHA:36238
Thrombocytopenia 2
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... OMIM:188000
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Abnormal cortical bone morphology, Increased susceptibility to fr... ORPHA:2769
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Wide anterior fontanel OMIM:614886
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... ORPHA:369929
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten... OMIM:230800
Overhydrated Hereditary Stomatocytosis
Pulmonary embolism OMIM:185000
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Purpura, Epid... ORPHA:99827
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
48,Xxxy Syndrome
Pulmonary embolism ORPHA:96263
Raine Syndrome
Long hallux, Bowing of the long bones, Brachydactyly, Subperiosteal bone formation, Increased bon... OMIM:259775
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Osteopenia, Decreased circulating IgA level, Prolonged prothromb... OMIM:212065
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Incr... ORPHA:99826
49,Xxxxy Syndrome
Pulmonary embolism ORPHA:96264
Cardiac-Urogenital Syndrome
Accessory spleen, Tracheomalacia, Prolonged bleeding time, 2-3 toe syndactyly OMIM:618280
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Anemia, Neutropenia, T... ORPHA:2330
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Splenomegaly, Prolonged prothrombin time, Abnormality of the epip... OMIM:618641
Lymphoid Interstitial Pneumonia
Raynaud phenomenon, Pulmonary venous hypertension ORPHA:79128
Familial Mediterranean Fever
Erysipelas, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis, Arthritis, Neutro... OMIM:249100
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Small hand, Short foot, Short palm OMIM:241410
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Hypertensive crisis, Pulmonary arterial hypertension, Congestive hear... ORPHA:220393
Braddock Syndrome
Pulmonary arterial hypertension ORPHA:52047
Antisynthetase Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Telangiectasia of the skin, Myocarditis ORPHA:81
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Intracranial hemorrhage, Hype... ORPHA:394
Keutel Syndrome
Pulmonary arterial hypertension ORPHA:85202
Familial Thrombocytosis
Pulmonary arterial hypertension, Transient ischemic attack, Syncope, Cerebral ischemia ORPHA:71493
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Impaired platelet aggregation OMIM:241200
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Long hallux, Long fingers, Thin bony cortex, Osteoporosis, Recurrent fractures, Hyperextensibilit... OMIM:309583
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension ORPHA:447980
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Pulmonar... ORPHA:1830
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension OMIM:614857
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Flexion contracture, Prolonged prothrombin time ORPHA:367
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Tarsal sclerosis, Shoulder dislocation, Sclerosis of finger phalanx, ... ORPHA:404454
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Portal hypertension, EEG abnormality ORPHA:974
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Mitral regurgitatio... ORPHA:363705
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Joint stiffness, Brachydactyly, Thin bony cortex, Broad metatarsal, ... OMIM:277600
Eisenmenger Syndrome
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... ORPHA:97214
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Liver abscess, Neutrophilia ORPHA:54251
Hurler-Scheie Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:607015
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Microcytic anemia, Recurrent otitis media, Overlapping toe, Leuko... ORPHA:99843
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Prolonged prothrombin time, Thrombocytosis, Anemia, Acute pancreatitis ORPHA:20
Spondyloocular Syndrome
Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long toe, Long fingers, Thin bony co... OMIM:605822
Down Syndrome
Polycythemia, Sandal gap, Acute megakaryocytic leukemia, Joint hypermobility, Brachydactyly, Thro... ORPHA:870
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension OMIM:612387
Weill-Marchesani Syndrome 2
Broad phalanges of the hand, Short finger, Elbow flexion contracture, Joint stiffness, Brachydact... OMIM:608328
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Hypoplastic pelvis, Polydactyly, Thin bony cortex OMIM:612731
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Short foot ORPHA:2323
Craniotubular Dysplasia, Ikegawa Type
Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Metaphyseal dysp... OMIM:619727
Tetrasomy 5P
Heart murmur, Pulmonary arterial hypertension, Congestive heart failure ORPHA:3309
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism ORPHA:3205
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Pulmonary arterial hypertension, Hypertension, Cerebral ischemia OMIM:242900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Pulmonary embolism ORPHA:567546
Primary Sclerosing Cholangitis
Osteopenia, Hepatitis, Hepatosplenomegaly, Splenomegaly, Polyclonal elevation of IgM, Pancreatiti... ORPHA:171
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Subdural hemorrhage, Dilated cardiomyopathy ORPHA:79282
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Mildly reduced left ventricular eje... ORPHA:99094
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:615474
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Prolonged prothrombin time OMIM:613070
Yellow Fever
Neutrophilia, Abnormal bleeding, Leukocytosis, Skin rash, Excessive bleeding after a venipuncture... ORPHA:99829
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
Systemic Sclerosis
Intestinal bleeding, Right ventricular failure, Nail bed telangiectasia, Telangiectasia, Syncope,... ORPHA:90291
Yellow Nail Syndrome
Pulmonary arterial hypertension ORPHA:662
Atypical Werner Syndrome
Limitation of joint mobility, Finger clinodactyly, Sclerosis of hand bone, Intervertebral disk de... ORPHA:79474
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Overlap Myositis
Pulmonary arterial hypertension, Hypertension, Raynaud phenomenon ORPHA:206572
Dehydrated Hereditary Stomatocytosis
Pulmonary venous hypertension ORPHA:3202
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension OMIM:605711
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hepatitis, Splenomegaly, Prolonged prothrombin time OMIM:613812
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
ERI1-related disease
Tricuspid regurgitation, Pulmonary arterial hypertension OMIM:608739
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis OMIM:616028
Abetalipoproteinemia
Osteopenia, Abnormal bleeding, Acanthocytosis, Reticulocytosis, Keratoconjunctivitis sicca, Prolo... ORPHA:14
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... OMIM:269150
Melas
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... ORPHA:550
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonic stenosis OMIM:608149
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension ORPHA:217563
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Pulmonary arterial hypertension, Tachycardi... OMIM:614921
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension OMIM:613845
Hellp Syndrome
Microangiopathic hemolytic anemia, Cerebral hemorrhage, Hemolytic anemia, Internal hemorrhage, Th... ORPHA:244242
Desmosterolosis
Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita OMIM:602398
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Reduced left ventricular ejection fraction, Arrhythmia, Pulmonary arterial hypert... ORPHA:258
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Pancytopenia, Joint hypermobility, Thin bony cortex, Anemia, Reduced bone mi... OMIM:613658
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Pulmonary arterial hypertension, Tr... OMIM:614185
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Congestive heart failure OMIM:616482
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Congestive heart failure ORPHA:1457
Aspartylglucosaminuria
Joint stiffness, Abnormal cortical bone morphology, Splenomegaly, Abnormal morphology of ulna, Ar... ORPHA:93
Monosomy 13Q34
Hematochezia, Epistaxis, Postaxial foot polydactyly, Prolonged prothrombin time, Postaxial hand p... ORPHA:96168
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension OMIM:616449
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hematochezia, Prolonged prothrombin time OMIM:214950
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension ORPHA:2519
17Q23.1Q23.2 Microdeletion Syndrome
Pulmonary arterial hypertension ORPHA:261279
Fg Syndrome Type 1
Pulmonary arterial hypertension ORPHA:93932
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... OMIM:614008
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Hypertension, Pulmonary venous hypertension ORPHA:79259
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Elevated pulmonary artery pressure OMIM:619351
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, High-output congestive heart failure ORPHA:231222
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypophosphatemic rickets, Splenomegaly, Prolonged prothrombin time, ... OMIM:276700
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Recurrent otitis media, Splenomegaly, Bleeding with minor or no trauma, Thromb... OMIM:619525
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Telangiectasia of the skin, Pulmonary arterial hyper... ORPHA:464
Mucopolysaccharidosis, Type Vi
Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Mitral stenosis... OMIM:253200
Familial Chylomicronemia Syndrome
Pulmonary embolism ORPHA:444490
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Ciliary Dyskinesia, Primary, 53
Pulmonary arterial hypertension OMIM:620642
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Pulmonary arterial hypertension OMIM:620233
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Pulmonary arterial hypertension OMIM:620663
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitat... ORPHA:505248
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension OMIM:265120
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300