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Gene: Gab1 MGI:108088

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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:
growth factor receptor bound protein 2-associated protein 1
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 Gab1 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 Gab1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 26
OMIM:605428

The table below shows human diseases predicted to be associated to Gab1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Syngnathia
Cleft palate OMIM:119550
Sprengel Deformity
Torticollis, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the shoulder girdle muscula... ORPHA:3181
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Pedal edema, Ri... ORPHA:422
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Peripartum Cardiomyopathy
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... ORPHA:563
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Abnormal heart morphology, Abnormal placenta mor... ORPHA:439167
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Medial flaring of the eyebrow, Tricuspid regurgitation, Hooded eyel... OMIM:612863
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... ORPHA:280779
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Purpura Simplex
Purpura, Epistaxis, Menorrhagia, Bruising susceptibility, Ptosis OMIM:179000
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibility, Abnorma... OMIM:613235
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Congenital Factor Xiii Deficiency
Umbilical cord hematoma, Epistaxis, Cerebral hemorrhage, Poor wound healing, Joint hemorrhage, Pr... ORPHA:331
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Bruising susceptibility, Petechiae, Mitral valve prolapse OMIM:225310
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibili... OMIM:609821
Uvula, Bifid
Bifid uvula OMIM:192100
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Facial palsy OMIM:617732
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Oculoauriculofrontonasal Syndrome
Encephalocele, Limbal dermoid, Ventricular septal defect, Upper eyelid coloboma ORPHA:398156
Evans Syndrome
Epistaxis, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Macroglossia
Macroglossia OMIM:153630
Cleft Soft Palate
Cleft soft palate OMIM:119570
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Congenital Sialidosis Type 2
Abnormal EKG, Edema, Telangiectasia, Abnormal heart morphology, Generalized hypertrichosis, Umbil... ORPHA:93400
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Bartsocas-Papas Syndrome 1
Absent eyebrow, Ablepharon, Decreased fetal movement, Alopecia, Alopecia totalis, Sparse scalp ha... OMIM:263650
Barber-Say Syndrome
Ablepharon, Telecanthus, Redundant skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic ... ORPHA:1231
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Myopathy, High palate, Arthrogry... OMIM:201550
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Pleural effusion, Ascites, Fetal... OMIM:617397
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Cutis marmorata, Vasculitis, Skin ulcer, Keratoconjunctivitis sicca,... ORPHA:91138
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval, Petechiae ORPHA:231111
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Portal hypertension, Ecchymosis, Ascites, Petechiae OMIM:619463
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Ecchymosis, Bruising susceptibility OMIM:614201
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... OMIM:619705
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Ascites, Gingival bleeding, Hypotens... ORPHA:99828
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye... OMIM:167730
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614009
Neu-Laxova Syndrome 1
Ablepharon, Decreased fetal movement, Ventricular septal defect, Spina bifida, Polyhydramnios, Ab... OMIM:256520
Neu-Laxova Syndrome 2
Ablepharon, Decreased fetal movement, Polyhydramnios, Spina bifida, Edema, Intrauterine growth re... OMIM:616038
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Bruising susceptibility, Epistaxis, Petechiae OMIM:314050
Thrombocytopenia 5
Bruising susceptibility, Epistaxis, Petechiae OMIM:616216
Sea-Blue Histiocytosis
Abnormal bleeding, Petechiae, Blepharitis, Edema ORPHA:158029
Prolidase Deficiency
Diffuse telangiectasia, Skin ulcer, Low posterior hairline, Prolonged neonatal jaundice, Facial h... OMIM:170100
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Low posterior hairline, Congenital bilateral ptosis, Severe intrauterine g... ORPHA:73272
Oculocerebrocutaneous Syndrome
Alopecia, Orbital encephalocele, Orbital cyst, Eyelid coloboma OMIM:164180
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... ORPHA:449285
Treacher Collins Syndrome 4
Preauricular hair displacement, Downslanted palpebral fissures, Lower eyelid coloboma OMIM:618939
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature OMIM:253310
Acute Promyelocytic Leukemia
Abnormal bleeding, Epistaxis, Diffuse alveolar hemorrhage, Oral cavity bleeding, Gingival bleedin... ORPHA:520
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:187900
Tufted Angioma
Hypertrichosis, Petechiae, Purpura ORPHA:1063
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Cutaneous Small Vessel Vasculitis
Cutis marmorata, Erythema, Vasculitis, Urticaria, Purpura ORPHA:889
Ablepharon Macrostomia Syndrome
Ablepharon, Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Breast hypop... ORPHA:920
Restrictive Dermopathy
Premature delivery because of cervical insufficiency or membrane fragility, Polyhydramnios, Scali... ORPHA:1662
Burn-Mckeown Syndrome
Ventricular septal defect, Blepharophimosis, Lower eyelid coloboma, Atrial septal defect, Short p... OMIM:608572
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate ORPHA:2521
Pseudo-Torch Syndrome 1
Umbilical hernia, Jaundice, Patent foramen ovale, Petechiae OMIM:251290
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Torticollis, Natal tooth, Cleft palate OMIM:217150
Hatipoglu Immunodeficiency Syndrome
Poor wound healing, Dry skin, Premature graying of hair, Intrauterine growth retardation, Fair ha... OMIM:620331
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Bruising susceptibility, Persistent bleeding after trauma, Epistaxis, Petechiae OMIM:300367
Primary Myelofibrosis
Abnormal bleeding, Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, High, narrow palate, Velopharyngeal insufficiency, Abn... OMIM:619941
Acquired Purpura Fulminans
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... ORPHA:49566
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Vasculitis in the skin, Petechiae, Purpura OMIM:620296
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Congenital Heart Block
First degree atrioventricular block, Hydrops fetalis, Atrioventricular block, Vaginal birth after... ORPHA:60041
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Acrofacial Dysostosis, Cincinnati Type
Lower eyelid coloboma, Ablepharon, Downslanted palpebral fissures, Upper eyelid coloboma OMIM:616462
Epidermolysis Bullosa Simplex 5A, Ogna Type
Skin fragility with non-scarring blistering, Bruising susceptibility OMIM:131950
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction, Abnormal hair pattern ORPHA:2717
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Bicuspid aortic valve, Lower eyelid coloboma OMIM:616367
Frontofacionasal Dysplasia
Encephalocele, Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner... ORPHA:1791
Fucosidosis
Petechiae, Angiokeratoma, Cardiomegaly, Tortuosity of conjunctival vessels, Dry skin, Bruising su... OMIM:230000
Meningococcal Meningitis
Shock, Petechiae, Hypotension, Purpura ORPHA:33475
Richieri-Costa/Guion-Almeida Syndrome
Eyelid coloboma, Palmoplantar cutis laxa, Spina bifida occulta, Downslanted palpebral fissures, P... OMIM:268850
Complement Component 4A Deficiency
Cutaneous photosensitivity, Vasculitis, Purpura OMIM:614380
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Jaundice, Petechiae ORPHA:79477
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Epistaxis, Petechiae OMIM:612840
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae OMIM:187800
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Cryptop... OMIM:617667
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation ORPHA:369840
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Cyanosis, Premature birth, Edema, Jaundice, Bradycardia, Hypotens... ORPHA:90051
Sprengel Deformity
Shoulder muscle hypoplasia, Neck muscle hypoplasia OMIM:184400
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, High palate, Hypoplasia of the musculature ORPHA:85323
Alg9-Cdg
Thickened nuchal skin fold, Decreased fetal movement, Telecanthus, Tricuspid regurgitation, Ventr... ORPHA:79328
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Encephalocraniocutaneous Lipomatosis
Alopecia, Ventricular septal defect, Limbal dermoid, Eyelid coloboma, Subvalvular aortic stenosis... OMIM:613001
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Abnormal hair morphology, Telecanthus, Eyelid coloboma, Ethmoidal encephalocele OMIM:607597
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Redundant skin, Absent eyelashes, Single umbili... OMIM:200110
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Menorrhagia, Gingival bleeding, Ecchymosis, Bruising susceptibility, Prolonged bleedin... OMIM:153670
Orthostatic Hypotensive Disorder, Streeten Type
Orthostatic hypotension, Syncope, Bruising susceptibility, Facial erythema OMIM:143850
Ehlers-Danlos Syndrome, Classic Type, 2
Epicanthus, Bruising susceptibility, Fragile skin OMIM:130010
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Hydranencephaly, Intrauterine growth retardation, Joint contractur... OMIM:225790
Kanzaki Disease
Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Tortuosity of conjunctival ves... OMIM:609242
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Polyhydramnios, Large placenta, Abnormal heart morphology, Umbilical h... ORPHA:254534
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Umbilical cord hematoma, Epidural hemorrhage, Premature birth, Prolo... ORPHA:465
Hemochromatosis, Type 3
Cardiomyopathy, Purpura OMIM:604250
Manitoba Oculotrichoanal Syndrome
Eyelid coloboma, Abnormality of the hairline, Nasolacrimal duct obstruction, Cryptophthalmos OMIM:248450
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Ecchymosis, Bruising susceptibility, Petechiae, Purpura ORPHA:540
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hypopigmentation of hair, Epistaxis, Albinism, Hematochezia, Cardiomyopa... OMIM:203300
Anophthalmia Plus Syndrome
Blepharophimosis, Eyelid coloboma, Spina bifida ORPHA:1104
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Thick eyebrow, Ptosis OMIM:619736
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Urticaria, Vasculitis, Petechiae OMIM:603909
Bartsocas-Papas Syndrome
Alopecia totalis, Ankyloblepharon, Popliteal pterygium, Sparse or absent eyelashes, Eyelid colobo... ORPHA:1234
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Premature birth, Nail dystrophy, Intrauterine growth retardation, Petechiae OMIM:620133
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Iga Nephropathy, Susceptibility To, 1
Hypertension, Purpura OMIM:161950
Boutonneuse Fever
Vasculitis, Petechiae ORPHA:83313
Diamond-Blackfan Anemia 11
Eyelid coloboma, Bicuspid aortic valve OMIM:614900
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Skin ulcer, Subcutaneous hemorrhage, Pulmonary embolism ORPHA:743
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Amyotrophy of... ORPHA:90103
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Postaxial Acrofacial Dysostosis
Eyelid coloboma, Ectropion of lower eyelids, Downslanted palpebral fissures, Supernumerary nipple ORPHA:246
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Roch-Leri Mesosomatous Lipomatosis
Purpura ORPHA:529
Fraser Syndrome 1
Encephalocele, Absent eyebrow, Absent eyelashes, Myelomeningocele, Extension of hair growth on te... OMIM:219000
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma OMIM:613456
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... ORPHA:183
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Edema, Poor wound healing, Facial erythema, Hypertension, Ecchymosis, Bruising ... OMIM:219090
Ehlers-Danlos Syndrome, Periodontal Type, 2
Prominent superficial veins, Gingival bleeding, Umbilical hernia, Bruising susceptibility, Fragil... OMIM:617174
Complement Component 2 Deficiency
Purpura OMIM:217000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Petechiae, Purpura OMIM:605432
Gorlin-Chaudhry-Moss Syndrome
Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse hair, Umbilical ... ORPHA:2095
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing OMIM:262800
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Osteopetrosis, Autosomal Recessive 4
Petechiae OMIM:611490
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Pierre... OMIM:254940
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Hypertension, Petechiae, Purpura ORPHA:85450
Thrombocytopenia 2
Bruising susceptibility OMIM:188000
Acrofrontofacionasal Dysostosis
Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis ORPHA:1784
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Jau... ORPHA:99826
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism ORPHA:745
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Cyanosis, Internal hemorrhage, Prolonged prothrombin time, Gingiv... ORPHA:335
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility OMIM:614200
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Telecanthus, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios... OMIM:208150
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Subcutaneous hemorrhage ORPHA:1980
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Immunodeficiency 81
Petechiae OMIM:619374
Momo Syndrome
Epicanthus, Eyelid coloboma, Downslanted palpebral fissures, Cutis marmorata OMIM:157980
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Prominent superficial blood vessels, Polyhydramnios, Prema... OMIM:275210
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Alopecia, Myocarditis, Xerost... ORPHA:809
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Albinism, Ecchymosis, Bruising susceptibility OMIM:614075
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Ecchymosis, Internal hem... ORPHA:99827
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrha... ORPHA:464329
Mirage Syndrome
Intracranial hemorrhage, Intrauterine growth retardation, Petechiae OMIM:617053
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Tented upper lip vermilion, Dental crowding, Shoulder flexion ... OMIM:620369
Jacobsen Syndrome
Epicanthus, Telecanthus, Ventricular septal defect, Abnormal eyelash morphology, Nasolacrimal duc... OMIM:147791
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Curly hair, Brittle hair, Ventricular septal defect, Polyhydramnios, Large ... OMIM:222470
Scalp-Ear-Nipple Syndrome
Epicanthus, Telecanthus, Palpebral edema, Sparse axillary hair, Blepharophimosis, Sparse pubic ha... OMIM:181270
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Long eyelashes, Cryptophthalmos OMIM:615877
Primary Release Disorder Of Platelets
Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia OMIM:176630
Walker-Warburg Syndrome
Skeletal muscle atrophy, Abnormal cortical gyration, Polymicrogyria, Submucous cleft hard palate,... ORPHA:899
Toriello-Lacassie-Droste Syndrome
Epicanthus, Telecanthus, Polyhydramnios, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiva ... ORPHA:3339
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Livedoid Vasculopathy
Telangiectasia of the skin, Cutis marmorata, Poor wound healing, Pedal edema, Skin ulcer, Hyperte... ORPHA:542643
Native American Myopathy
Skeletal muscle atrophy, Submucous cleft soft palate, Abnormality of skeletal muscle fiber size, ... ORPHA:168572
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Facial hypotonia, Cleft soft palate, Smooth philtrum OMIM:614526
Helsmoortel-Van Der Aa Syndrome
Epicanthus, Bilateral ptosis, Ectropion of lower eyelids, Heart murmur, Mitral valve prolapse, Ab... OMIM:615873
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Nager Syndrome
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... ORPHA:245
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Skeletal muscle atrophy, Scapular winging, Selective tooth agenesis, I... OMIM:305620
Jacobsen Syndrome
Epicanthus, Ectropion, Ventricular septal defect, Premature birth, Spina bifida, Eyelid coloboma,... ORPHA:2308
Fraser Syndrome 2
Low anterior hairline, Cryptophthalmos, Oligohydramnios OMIM:617666
Lujo Hemorrhagic Fever
Shock, Generalized edema, Facial edema, Periorbital edema, Excessive bleeding after a venipunctur... ORPHA:319213
Anti-Glomerular Basement Membrane Disease
Vasculitis, Purpura ORPHA:375
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Thrombocytopenia 1
Bruising susceptibility, Joint hemorrhage, Epistaxis, Petechiae OMIM:313900
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Polyhydramnios, Edema, Cardiomegaly, Low anterior hairline, Atrial septal ... ORPHA:363705
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Arterial rupture, Follicular hyperkeratosis ORPHA:300179
Momo Syndrome
Epicanthus, Eyelid coloboma, Downslanted palpebral fissures, Cutis marmorata ORPHA:2563
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Edema, Intracranial hemorrhage, Oral cavity bleeding, Men... ORPHA:324636
Classical Ehlers-Danlos Syndrome
Premature rupture of membranes, Ecchymosis, Acrocyanosis, Prolonged bleeding time, Premature birt... ORPHA:287
Noonan Syndrome 4
Abnormal bleeding, Curly hair, Epicanthus, Ventricular septal defect, Polyhydramnios, Sparse eyeb... OMIM:610733
Oculocerebrocutaneous Syndrome
Alopecia, Eyelid coloboma, Ptosis ORPHA:1647
Sweeney-Cox Syndrome
Polyhydramnios, Widow's peak, Low anterior hairline, Upper eyelid coloboma, Patent foramen ovale,... OMIM:617746
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Sparse eyelashes, Sparse eyebrow, Widow's peak, Eyelid coloboma, Cranium bifidum occu... ORPHA:306542
Bleeding Disorder In Hemophilia A Carriers
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed... ORPHA:177926
Oculoectodermal Syndrome
Epicanthus, Transient ischemic attack, Supernumerary nipple, Lymphedema, Limbal dermoid, Eyelid c... OMIM:600268
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Cutis marmorata, Epistaxis, Periorbital edema, Congestive heart fail... ORPHA:33226
Cantu Syndrome
Epicanthus, Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Lymphedem... OMIM:239850
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Camptodactyly of finger, Submucous cleft hard palate, Cleft palate, Knee f... OMIM:114300
3Mc Syndrome 2
Torticollis, Diastasis recti, Hypoplasia of the musculature, Cleft upper lip, Partial abdominal m... OMIM:265050
Immunodeficiency, Common Variable, 6
Purpura OMIM:613496
Viss Syndrome
Epidural hemorrhage, Prominent superficial blood vessels, Polyhydramnios, Right ventricular dilat... OMIM:619472
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, H... ORPHA:231226
Thrombocytopenia 3
Epistaxis, Petechiae OMIM:273900
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Upper eyelid coloboma, Lower eyelid coloboma, Abn... OMIM:154500
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... ORPHA:99147
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Cyanosis, Congestive heart failure, Hydrops fetalis, Chylopericardium, P... ORPHA:2414
Neu-Laxova Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnormality of th... ORPHA:2671
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... OMIM:616331
Constricting Bands, Congenital
Encephalocele, Ectopia cordis, Eyelid coloboma OMIM:217100
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Telecanthus, Mitral atresia, Eyelid coloboma, Abnormal cardiac septum morph... ORPHA:140952
Chikungunya
Abnormal bleeding, Epistaxis, Facial edema, Raynaud phenomenon, Erythema, Pedal edema, Joint swel... ORPHA:324625
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Epicanthus, Redundant neck skin, Polyhydramnios, Large placenta, Narrow palpebral fissure, Umbili... ORPHA:254528
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Ventricular septal defect, Abnormal nasolacrimal system ... ORPHA:141099
Mycophenolate Mofetil Embryopathy
Eyelid coloboma, Ventricular septal defect, Hydrops fetalis ORPHA:268249
Acute Generalized Exanthematous Pustulosis
Acantholysis, Facial edema, Conjunctivitis, Scaling skin, Skin vesicle, Purpura ORPHA:293173
Birk-Barel Syndrome
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula OMIM:612292
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Abnormality of the umbi... ORPHA:327
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Edema, Myocarditis, Capillary leak, Scaling skin, Hypotension, Ecchymosis ORPHA:36234
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia ORPHA:3201
Frontofacionasal Dysplasia
Telecanthus, Blepharophimosis, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Cra... OMIM:229400
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, High palate, Nar... ORPHA:2463
Beta-Thalassemia Major
Hepatomegaly, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, Splenomegal... ORPHA:231214
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula... ORPHA:559
Idiopathic Aplastic Anemia
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding ORPHA:88
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Mitral valve prolapse, Arrhythmia, Spina bifida occulta, Bruising su... ORPHA:230839
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prolonged bleeding afte... OMIM:615888
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... OMIM:614702
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Epicanthus, Telecanthus, Premature birth, Redundant skin, Premature rupture of membranes, Blephar... OMIM:225410
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Telecanthus, Tricuspid regurgitation, Mitral valve prolapse, Mitral regurgi... OMIM:601776
Noonan Syndrome 13
Epicanthus, Highly arched eyebrow, Lymphedema, Almond-shaped palpebral fissure, Hypertrichosis, D... OMIM:619087
Aicardi-Goutières Syndrome
Cutis marmorata, Cardiomegaly, Raynaud phenomenon, Dry skin, Eyelid coloboma, Prolonged neonatal ... ORPHA:51
Fraser Syndrome
Encephalocele, Abnormal hair pattern, Myelomeningocele, Lacrimal duct aplasia, Malformed lacrimal... ORPHA:2052
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Menorrhagia, Epistaxis OMIM:616176
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Bil... OMIM:618000
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Camptodactyly, Triangular m... OMIM:618529
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Acrofacial Dysostosis 1, Nager Type
Sparse lower eyelashes, Ventricular septal defect, Premature birth, Lower eyelid coloboma, Absent... OMIM:154400
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:619267
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Premature birth, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous... ORPHA:555874
Noonan Syndrome 14
Aortic regurgitation, Curly hair, Epicanthus, Lacrimal duct stenosis, Polyhydramnios, Sparse eyeb... OMIM:619745
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Para... ORPHA:2912
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi... ORPHA:169802
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... ORPHA:2712
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Epistaxis, Hematemesis, Large vessel vasculitis, Melena, Gingival bleedi... OMIM:301000
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End... ORPHA:781
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Stormorken-Sjaastad-Langslet Syndrome
Purpura ORPHA:3204
Cinca Syndrome
Urticaria, Premature birth, Edema, Purpura ORPHA:1451
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly, Eyelid coloboma, Downslanted palpebral fissures, Ptosis ORPHA:2211
Branchioskeletogenital Syndrome
Telecanthus, Absent nipple, Highly arched eyebrow, Synophrys, Blepharochalasis, Eyelid coloboma, ... ORPHA:1299
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis OMIM:613554
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Epicanthus, Sparse eyelashes, Polyhydramnios, Pericardial effusion, Spa... OMIM:620070
Amish Lethal Microcephaly
Hepatomegaly, Cleft soft palate, Spina bifida ORPHA:99742
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Dental crowding, Hypoplasia of the musculature, Ankle flexion contracture, Flexi... ORPHA:2020
Gray Platelet Syndrome
Abnormal bleeding, Bruising susceptibility, Epistaxis ORPHA:721
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Edema, Angioedema, Vasculitis, Erythema, Skin ulcer, Urticaria, Brui... ORPHA:761
Rin2 Syndrome
Sparse scalp hair, Redundant skin, Upper eyelid edema, Umbilical hernia, Bruising susceptibility,... ORPHA:217335
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal eyelid morphology, Atrial septal defect, Spina bifida, Umbilical hernia,... ORPHA:567
Ehlers-Danlos Syndrome, Classic Type, 1
Epicanthus, Poor wound healing, Mitral valve prolapse, Premature birth following premature ruptur... OMIM:130000
Postaxial Acrofacial Dysostosis
Eyelid coloboma, Downslanted palpebral fissures, Supernumerary nipple, Ectropion OMIM:263750
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Knee flexion contracture ORPHA:166016
Agel Amyloidosis
Edema, Bilateral ptosis, Xerostomia, Dry skin, Cutis laxa, Cardiomyopathy, Blepharochalasis, Kera... ORPHA:85448
Kasabach-Merritt Syndrome
Prolonged prothrombin time, Hypertrichosis, Petechiae, Purpura ORPHA:2330
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border, Congenital diaphragmatic hernia ORPHA:250999
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Bruising susceptibility ORPHA:75497
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Absent eyelashes, Abnormal hair morphology, Low anterior hairli... ORPHA:861
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Alopecia, Myocarditis, Erythema, Large vessel vasc... ORPHA:728
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Gingival... OMIM:614072
Intellectual Developmental Disorder, Autosomal Dominant 58
Facial hypotonia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hi... OMIM:618106
Mosaic Trisomy 16
Ventricular septal defect, Premature birth, Large placenta, Abnormal heart morphology, Single umb... ORPHA:1708
Shigellosis
Myocarditis, Dehydration, Urticaria, Hypovolemic shock, Conjunctivitis, Purpura ORPHA:810
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Cushing Disease
Plethora, Sparse scalp hair, Striae distensae, Dorsocervical fat pad, Myocardial infarction, Poor... ORPHA:96253
Hydrolethalus
Submucous cleft hard palate, Anencephaly, Gingival cleft, Cleft palate, Unilateral cleft lip, Bif... ORPHA:2189
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Bruising susceptibility, Mitral valve prolapse OMIM:225320
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Progeroid facial appearance, Cutis laxa, Hypertens... OMIM:208050
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Scalp-Ear-Nipple Syndrome
Telecanthus, Palpebral edema, Hypertension, Eyelid coloboma, Breast aplasia, Sparse hair ORPHA:2036
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate OMIM:609166
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Poor wound healing, Aortic valve ca... ORPHA:2072
Scorpion Envenomation
Bundle branch block, Tachycardia, Pulmonary edema, Edema, Cardiac conduction abnormality, Congest... ORPHA:466677
Loeys-Dietz Syndrome 5
Scapular winging, Decreased muscle mass, Tented upper lip vermilion, Cleft soft palate, Eosinophi... OMIM:615582
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Thick eyebrow, Tricuspid regurgitation, Left ventricular hypertrophy, Abnor... ORPHA:230851
Frontometaphyseal Dysplasia
Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Shoulder muscle hypop... ORPHA:1826
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Thickened nuchal skin fold, Angina ... ORPHA:758
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Cutis marmorata, Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Ski... OMIM:615688
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Menorrhagia, Bruisi... OMIM:155100
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate OMIM:619122
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Charge Syndrome
Epicanthus, Polyhydramnios, Highly arched eyebrow, Eyelid coloboma, Abnormal cardiac septum morph... ORPHA:138
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Umbilical hernia, Camptodactyly of finger, Hypoplasia of the musculature ORPHA:1101
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Cutis marmorata, Epistaxis, Congestive heart failure, ... ORPHA:727
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling... ORPHA:98878
Faundes-Banka Syndrome
Sparse scalp hair, Epicanthus, Fetal ascites, Hypoplasia of the lower eyelids, Long palpebral fis... OMIM:619376
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Poor wound healing, Arterial rupture, Atrial septal defect, Bruising susceptibility, Dermal trans... OMIM:619115
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Kagami-Ogata Syndrome
Premature birth, Polyhydramnios, Large placenta, Blepharophimosis, Frontal hirsutism ORPHA:254519
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... ORPHA:2804
Macs Syndrome
Prolonged bleeding time, Epicanthus, Alopecia, Palpebral edema, Redundant skin, Sparse eyebrow, C... OMIM:613075
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Downslanted palpebral fissures ORPHA:157965
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula OMIM:619314
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Myelofibrosis
Pallor, Purpura OMIM:254450
Kyphoscoliotic Ehlers-Danlos Syndrome
Decreased fetal movement, Epicanthus, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, P... ORPHA:536545
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Menorrhagia, Bruising susce... OMIM:614076
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Ab... ORPHA:85443
Multiple Pterygium Syndrome, X-Linked
Amyoplasia, Flexion contracture, Cleft palate, Cleft upper lip OMIM:312150
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Premature birth, Progeroid facial appearance, Mitral valve p... OMIM:616914
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Cutis marmorata, Intrauterine growth retardation, Ascites, Subcutaneo... ORPHA:1556
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Breech presentation, Bruising susceptibility, Poor wound healing OMIM:130060
Noonan Syndrome 3
Epicanthus, Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Downslanted palpebr... OMIM:609942
Hemophilia A
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Muscle hemorrhage OMIM:306700
Schilbach-Rott Syndrome
Submucous cleft hard palate, Bifid uvula, Narrow mouth OMIM:164220
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Epicanthus, Bruising susceptibility, Downslanted palpebral fissures, Aplasia/Hypoplasia of the ey... ORPHA:98791
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Epicanthus, Redundant neck skin, Ventricular septal defect, Premature birth, Polyhydramnios, Blep... ORPHA:96334
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... OMIM:614701
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... ORPHA:1071
Meckel Syndrome, Type 1
Occipital encephalocele, Ptosis, Large placenta, Breech presentation, Anencephaly, Single umbilic... OMIM:249000
Ehlers-Danlos Syndrome, Vascular Type
Dermal translucency, Recurrent intrapulmonary hemorrhage, Premature delivery because of cervical ... OMIM:130050
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Alopecia totalis, Pericardial effusion, ... OMIM:618775
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Elbow flexion ... OMIM:117650
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Epistaxis, Cardiomyopat... ORPHA:79430
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Facial palsy, High, narrow palate, Submucous cleft hard palate, Cleft ... ORPHA:2780
Congenital Enterovirus Infection
Abnormal bleeding, Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Peri... ORPHA:292
Zika Virus Disease
Intrauterine growth retardation, Conjunctivitis, Subcutaneous hemorrhage, Edema ORPHA:448237
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:605735
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Subcutaneous hemorrhage, Pulmonary hemorrhage OMIM:603585
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Polyhydramnios, Frontal encephalocele, Eyelid coloboma, Stillbirth, Se... OMIM:268300
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, In... OMIM:612940
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Wrinkly Skin Syndrome
Scapular winging, Short stature, Short nail, Hypoplasia of the musculature, Sparse hair, Umbilica... OMIM:278250
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Raynaud phenomenon, Cardiomyopathy, Hyper... ORPHA:48435
8Q22.1 Microdeletion Syndrome
Long philtrum, Submucous cleft hard palate, Camptodactyly of finger, Abnormality of the dentition ORPHA:178303
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Poor wound healing, Mitral valve prolapse, Bruising susceptibility, St... OMIM:606408
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Decreased fetal movement, Epicanthus, Poor wound healing, Congestive... OMIM:225400
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Prominent superficial veins, Bruising susceptibility, Downslanted palpebral fissures OMIM:612350
Myhre Syndrome
Submucous cleft hard palate, Gingival cleft, Cleft palate, Skeletal muscle hypertrophy, Abnormal ... ORPHA:2588
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Flexion contracture, Cleft palate OMIM:253290
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Menorrhagia, Br... ORPHA:182050
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Submucous cleft hard palate, Thick lower lip vermilion, Wide mouth, Unilateral cleft lip, Unilate... OMIM:619103
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Brucellosis
Pericarditis, Transient ischemic attack, Premature birth, Myocarditis, Endocarditis, Abnormal aor... ORPHA:1304
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse, Bruising susceptibility, Downslanted palpebral fiss... OMIM:614816
Treacher Collins Syndrome 2
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:613717
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Torticollis, Submucous cleft hard palate OMIM:619680
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Pulmonary arterial hypertension, Gingival bleeding, Abnormal m... ORPHA:77259
Spondyloenchondrodysplasia With Immune Dysregulation
Raynaud phenomenon, Joint swelling, Purpura OMIM:607944
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Sparse scalp hair, Striae distensae, Dorsocervical fat pad, Myocardial infarction, Poor... ORPHA:99889
Rhizomelic Chondrodysplasia Punctata, Type 2
Submucous cleft hard palate, Flexion contracture, High palate OMIM:222765
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... OMIM:619950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Purpura OMIM:235400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance, Cleft soft palate OMIM:614557
Hermansky-Pudlak Syndrome 4
Abnormal bleeding, Epistaxis, Albinism, Menorrhagia, Bruising susceptibility OMIM:614073
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Upslanted palpebral fissure, Premature rupture of membranes, Pulmonic stenosis, Bruising suscepti... OMIM:618343
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Bruising susceptibility, Arterial rupture, Poor wound healing, Dermal translucency OMIM:619120
Musculocontractural Ehlers-Danlos Syndrome
Abnormal bleeding, Abnormal heart valve morphology, Redundant skin, Abnormal heart morphology, Br... ORPHA:2953
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Redundant skin, Pericardial effusion, Bilateral ptosis, Prominent veins on trunk, Mitra... ORPHA:536532
Stickler Syndrome, Type I
Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence OMIM:108300
Marden-Walker Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2461
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Dorsocervical fat pad, Hypertension, Bruising susceptibility, Fragile skin, Hirsutism OMIM:615830
Quebec Platelet Disorder
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Epistaxis OMIM:601709
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard... ORPHA:457279
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula, Spinal dysraphism OMIM:617660
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Lymphedema, Intracranial hemorrhage, Pallor, Bruising susceptibility ORPHA:3226
Isolated Arrhinia
Eyelid coloboma ORPHA:1134
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Attenuated Chédiak-Higashi Syndrome
Bruising susceptibility, Epistaxis, Skin ulcer, Gingival bleeding ORPHA:352723
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intrauterine growth retardation, Alopecia, Hypoplasia of eyelid OMIM:619321
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... OMIM:300990
Adiposis Dolorosa
Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, Xerostomia, Dry skin, Bruisi... ORPHA:36397
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Ehlers-Danlos Syndrome, Periodontal Type, 1
Prominent superficial veins, Poor wound healing, Gingival bleeding, Palmoplantar cutis laxa, Umbi... OMIM:130080
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, U... OMIM:192430
Primary Sjögren Syndrome
Cutis marmorata, Raynaud phenomenon, Vasculitis, Xerostomia, Skin ulcer, Keratoconjunctivitis sic... ORPHA:289390
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Beckwith-Wiedemann Syndrome
Premature birth, Redundant skin, Polyhydramnios, Cardiomegaly, Large placenta, Subchorionic septa... ORPHA:116
Hermansky-Pudlak Syndrome 11
Epistaxis, Albinism, Menorrhagia, Gingival bleeding, Fair hair, Bruising susceptibility OMIM:619172
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular f... ORPHA:199241
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness... ORPHA:90658
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Bruising susceptibility ORPHA:231401
Double Outlet Right Ventricle
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth ORPHA:3426
Contractural Arachnodactyly, Congenital
Hip contracture, Elbow flexion contracture, Knee flexion contracture, Distal arthrogryposis, High... OMIM:121050
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Poor wound healing, Congestive heart failure, Arterial rupture, Mitral valve p... ORPHA:1900
Desmosterolosis
Intestinal malrotation, Splenomegaly, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bi... ORPHA:35107
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Spina bifida occulta,... OMIM:619227
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Arterial rupture, Coarse hair, Shallow orbits, Intrauterine growth retardation, Bruising suscepti... OMIM:612394
Meester-Loeys Syndrome
Poor wound healing, Mitral valve prolapse, Umbilical hernia, Bruising susceptibility, Downslanted... OMIM:300989
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Arteritis, Pulmonary hemorrhage, Purpura ORPHA:93126
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Epistaxis, Albinism, Menorrhagia, Bruising susceptibility OMIM:614074
Fanconi Anemia, Complementation Group C
Epicanthus, Ventricular septal defect, Anemic pallor, Intrauterine growth retardation, Bruising s... OMIM:227645
Orofaciodigital Syndrome Type 4
Median cleft lip, Abnormal oral mucosa morphology, Camptodactyly of finger, High, narrow palate, ... ORPHA:2753
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility OMIM:139090
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Common Variable Immunodeficiency
Vasculitis, Purpura ORPHA:1572
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Periorbital edema, Vasculitis, Erythema, Conjunctivitis, Abnormal myocardium morpho... ORPHA:32960
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Blepharophimosis, Upper eyelid coloboma, Bran... OMIM:164210
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Open bite, Splenomegaly, Deep philtrum, Submucous cleft hard palate... OMIM:115150
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Noonan Syndrome 1
Abnormal bleeding, Epicanthus, Ventricular septal defect, Lymphedema, Dry skin, Low posterior hai... OMIM:163950
Hermansky-Pudlak Syndrome 8
Epistaxis, Albinism, Excessive bleeding after a venipuncture, Silver-gray hair, Menorrhagia, Ging... OMIM:614077
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, High, narrow palate, Wide mouth, Left ventricular noncompaction, Short philtrum,... OMIM:300967
Brittle Cornea Syndrome 2
Umbilical hernia, Bruising susceptibility OMIM:614170
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextroca... OMIM:618280
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Bruising susceptibility, Epistaxis OMIM:601399
Brittle Cornea Syndrome
Bruising susceptibility, Abnormality of hair pigmentation, Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Thin upper lip vermilion, Deep philtrum, Thin lower lip vermilion, Elbow flexion... OMIM:619194
Classic Homocystinuria
Gastrointestinal hemorrhage, Sparse scalp hair, Pulmonary embolism, Intracranial hemorrhage, Hype... ORPHA:394
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bruising susceptibility OMIM:620080
Meier-Gorlin Syndrome 5
Submucous cleft hard palate, Thick vermilion border, Long philtrum OMIM:613805
Stormorken Syndrome
Abnormal bleeding, Bruising susceptibility, Epistaxis, Subarachnoid hemorrhage OMIM:185070
Chédiak-Higashi Syndrome
Abnormal bleeding, Hypopigmentation of hair, Epistaxis, Edema, Pericardial effusion, Large clumps... ORPHA:167
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Cutis marmorata, Lymphedema, Telangiectasia, Intracranial hemorrhage, Subcutaneo... ORPHA:109
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Flexion contracture, Generalized limb muscle atrophy OMIM:618891
Diamond-Blackfan Anemia
Cleft soft palate, Cleft lip, High palate, Adenocarcinoma of the colon, Abnormality of the thenar... ORPHA:124
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Woolly hair, Intracranial hemorrhage, Spon... ORPHA:565
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hip contracture, Thin upper lip vermilion, Dental crowding, Cleft soft... OMIM:619503
Holoprosencephaly 13, X-Linked
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... OMIM:301043
Dubowitz Syndrome
Delayed eruption of teeth, Carious teeth, Velopharyngeal insufficiency, Submucous cleft hard pala... OMIM:223370
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension, Bruising susceptibility, Striae distensae OMIM:219080
Cholestasis, Progressive Familial Intrahepatic, 6
Bruising susceptibility, Bleeding requiring red cell transfusion OMIM:619484
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Malabsorption, Abnormality of the dentition, Rectal pro... ORPHA:235
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Bruising susceptibility, Striae distensae OMIM:610475
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Cleft palate, Thick ve... ORPHA:2554
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Facial palsy, High, narrow palate, Submucous cleft hard palate... ORPHA:2658
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Tolchin-Le Caignec Syndrome
Submucous cleft hard palate, High palate, Diastasis recti, Narrow mouth OMIM:618971
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Plethora, Alopecia, Striae distensae, Dorsocervical fat pad, Hypertension, Bruising susceptibilit... ORPHA:189427
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Anemic pallor, Abnormal heart morphology OMIM:600901
Marshall-Smith Syndrome
Bruising susceptibility, Generalized hirsutism ORPHA:561
Zttk Syndrome
Absent gallbladder, Abnormality of the dentition, Submucous cleft hard palate, Downturned corners... OMIM:617140
Wilson Disease
Joint swelling, Jaundice, Bruising susceptibility ORPHA:905
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Anemic pallor, Abnormal heart morphology OMIM:227650
Vascular Ehlers-Danlos Syndrome
Redundant skin, Internal hemorrhage, Abnormal bleeding, Alopecia, Premature birth, Prematurely ag... ORPHA:286
Fanconi Anemia, Complementation Group D2
Blepharophimosis, Bruising susceptibility, Anemic pallor, Abnormal heart morphology OMIM:227646
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate ORPHA:268261
Cardiofaciocutaneous Syndrome
Submucous cleft hard palate, High palate, Long philtrum ORPHA:1340
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Breech presentation, Bruising susceptibility, Fragile skin OMIM:617821
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Silver-gray hair, Jaundice, Bruising ... OMIM:214500
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Bruising susceptibility, Striae distensae OMIM:610489
Osteogenesis Imperfecta, Type I
Bruising susceptibility, Mitral valve prolapse OMIM:166200
Duane-Radial Ray Syndrome
Anal stenosis, Aganglionic megacolon, Facial palsy, Small thenar eminence, Pectoralis hypoplasia,... OMIM:607323
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Abnormal heart morphology, Mitral regurgitation, Pulmo... ORPHA:284984
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Bruising susceptibility OMIM:618162
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Bruising susceptibility OMIM:112250
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Flexion contracture... OMIM:300166
Campomelic Dysplasia
Irregular dentition, Spina bifida, Carious teeth, Submucous cleft hard palate, Cleft palate, Spin... OMIM:114290
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Abnormality of hair texture, Pallor, Pulmonary arterial hype... ORPHA:667
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dermal translucency, Bruising susceptibility, Mitral valve prolapse, Oligohydramnios ORPHA:536467
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal bleeding, Epistaxis, Prolonged bleeding following procedure, Hypertension, Xanthelasma, ... ORPHA:79259
Aregenerative Anemia
Abnormal bleeding, Bruising susceptibility, Pallor ORPHA:101096
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Cleft palate, Downturned corners of mouth, Thin vermilion border, Short philt... ORPHA:500150
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, I... OMIM:236680
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Striae distensae, Atrial fibrillation, Bicuspid aortic valve, Subarachno... OMIM:613795
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Thin upper lip vermilion, Camptodactyly of finger, Abnormality of the dentition, Ske... ORPHA:3455
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Cerebral hemorrhage, Mitral valve prolapse... ORPHA:666
Mowat-Wilson Syndrome
Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... ORPHA:261537
Neuroocular Syndrome
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... OMIM:619539
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Neoplasm of the tongue, Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger ORPHA:3047
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... ORPHA:261552
Holoprosencephaly 2
Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... OMIM:157170
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... OMIM:235730
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Jaundice, Intracranial hemorrhage, Prolong... ORPHA:90062
Carney Complex
Striae distensae, Dorsocervical fat pad, Cardiac myxoma, Congestive heart failure, Hypertension, ... ORPHA:1359
Occipital Horn Syndrome
Thick hair, Jaundice, Coarse hair, Bruising susceptibility, Downslanted palpebral fissures ORPHA:198
Occipital Horn Syndrome
Orthostatic hypotension, Redundant skin, Coarse hair, Bruising susceptibility, Pili torti OMIM:304150
Autoimmune Lymphoproliferative Syndrome
Abnormal bleeding, Vasculitis, Hydrops fetalis, Urticaria, Bruising susceptibility ORPHA:3261
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard... OMIM:619325
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Cleft upper lip, Submucous cleft hard palate, Orofacial cleft, Long phil... OMIM:607872
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Submucous cleft hard palate, Thick vermilion border, Bifid uvula, Cleft palate ORPHA:2636
Loeys-Dietz Syndrome
Abnormal bleeding, Bruising susceptibility, Cardiac arrest, Striae distensae ORPHA:60030
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Aplasia of the sweat glands, Syncope, Dry s... ORPHA:642
Deafness, Autosomal Recessive 26
OMIM:605428

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gab1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gab1.

No publications found that use IMPC mice or data for Gab1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gab1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gab1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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