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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, Abnormal eyelid morphology, Eyelid retraction OMIM:151610
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Syngnathia
Cleft palate OMIM:119550
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Sprengel Deformity
Shoulder muscle hypoplasia, Cleft palate, Torticollis, Abnormality of the shoulder girdle muscula... ORPHA:3181
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Pedal edema, Heart murmur, Elevated jugular venous pressure, Syn... ORPHA:422
Coronary Arterial Fistula
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... ORPHA:2041
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Peripartum Cardiomyopathy
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Peripheral edema, Toxemia of pre... ORPHA:563
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Maternal hypertension, Abnormal heart morphology... ORPHA:439167
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Immune Thrombocytopenia
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... ORPHA:3002
Chromosome 6Q24-Q25 Deletion Syndrome
Short palpebral fissure, Hooded eyelid, Medial flaring of the eyebrow, Persistent fetal circulati... OMIM:612863
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Petechiae, Bruising susceptibility, Erythema, Vascular skin ... 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
Congenital Factor Xiii Deficiency
Subcutaneous hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Umbilical cord h... ORPHA:331
Purpura Simplex
Purpura, Bruising susceptibility, Epistaxis, Ptosis, Menorrhagia OMIM:179000
Factor Xiii, B Subunit, Deficiency Of
Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolon... OMIM:613235
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Gast... ORPHA:853
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... OMIM:615616
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Bruising susceptibility, Mitral valve prolapse, Striae distensae, Petechiae OMIM:225310
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged bleeding after surge... OMIM:609821
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Uvula, Bifid
Bifid uvula OMIM:192100
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Systolic heart murmur, Palpitations, Peripheral edema, Abnormal P wave, Tricuspid regur... ORPHA:99106
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Facial palsy OMIM:617732
Glanzmann Thrombasthenia
Spontaneous, recurrent epistaxis, Purpura, Bruising susceptibility, Ecchymosis, Prolonged bleedin... ORPHA:849
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricu... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Cyanosis, Systolic heart murmur, Right ventricular dilatation, U... ORPHA:99104
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Encephalocele, Ventricular septal defect, Limbal dermoid ORPHA:398156
Macroglossia
Macroglossia OMIM:153630
Evans Syndrome
Petechiae, Jaundice, Syncope, Bruising susceptibility, Pallor, Epistaxis ORPHA:1959
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis OMIM:614158
Congenital Sialidosis Type 2
Telangiectasia, Petechiae, Abnormal EKG, Generalized hypertrichosis, Edema, Abnormal heart morpho... ORPHA:93400
Gaucher Disease, Perinatal Lethal
Premature birth, Polyhydramnios, Desquamation of skin soon after birth, Petechiae, Ascites, Decre... OMIM:608013
Glanzmann Thrombasthenia 1
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... OMIM:273800
Cleft Soft Palate
Cleft soft palate OMIM:119570
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle a... ORPHA:2926
Barber-Say Syndrome
Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Ablepharon, Redundant skin, Ectropion, Hypopla... ORPHA:1231
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia OMIM:165600
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Patent foramen ovale, Alopecia, Sparse scalp hair, Blepharophimosis, A... OMIM:263650
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis, Petechiae ORPHA:231111
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Thrombocytopenia 5
Bruising susceptibility, Epistaxis, Petechiae OMIM:616216
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, Myopathy, Cleft palate, High, narrow palate, Arthrogry... OMIM:201550
Cryoglobulinemic Vasculitis
Petechiae, Skin ulcer, Purpura, Cutis marmorata, Keratoconjunctivitis sicca, Gastrointestinal hem... ORPHA:91138
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... OMIM:613225
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Epistaxis, Menorrhagia, Prolonged bleeding time OMIM:614201
Portal Hypertension, Noncirrhotic, 2
Petechiae, Ecchymosis, Epistaxis, Portal hypertension, Ascites OMIM:619463
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Petechiae, Secundum atrial septal defect, Fetal distress, Pleural effusion, ... OMIM:617397
Dengue Fever
Hypotension, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Gingival bleedin... ORPHA:99828
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Right ventricular dilatation, Tricus... OMIM:619705
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Ecchymosis OMIM:614009
Distal Myopathy, Tateyama Type
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... ORPHA:488650
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Absent lacrimal punctum, Widow's pe... OMIM:167730
Sea-Blue Histiocytosis
Edema, Abnormal bleeding, Petechiae, Blepharitis ORPHA:158029
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Prolonged bleeding time, Epistaxis, Petechiae OMIM:314050
Neu-Laxova Syndrome 1
Patent foramen ovale, Polyhydramnios, Fetal akinesia sequence, Ventricular septal defect, Yellow ... OMIM:256520
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low posterior hairline, Congenital bilateral ptosis, Ptosis, Severe intrauterine growth retardati... ORPHA:73272
Neu-Laxova Syndrome 2
Polyhydramnios, Spina bifida, Decreased fetal movement, Ablepharon, Edema, Intrauterine growth re... OMIM:616038
Prolidase Deficiency
Petechiae, Skin ulcer, Ptosis, Low posterior hairline, Facial hirsutism, Prolonged neonatal jaund... OMIM:170100
Oculocerebrocutaneous Syndrome
Alopecia, Eyelid coloboma, Orbital cyst, Orbital encephalocele OMIM:164180
Bernard-Soulier Syndrome
Petechiae, Spontaneous, recurrent epistaxis, Abnormal bleeding, Bruising susceptibility, Gingival... ORPHA:274
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma, Preauricular hair displacement OMIM:618939
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Warfarin-induced skin necrosis, Purpura OMIM:612336
Snakebite Envenomation
Hypotension, Cerebral ischemia, Cardiogenic shock, Abnormal bleeding, Intracranial hemorrhage, Ec... ORPHA:449285
Bleeding Disorder, Platelet-Type, 17
Petechiae, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged bleeding ... OMIM:187900
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Arthrogryposis multiplex congenita OMIM:253310
Acute Promyelocytic Leukemia
Petechiae, Purpura, Abnormal bleeding, Diffuse alveolar hemorrhage, Bruising susceptibility, Ecch... ORPHA:520
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Tufted Angioma
Purpura, Hypertrichosis, Petechiae ORPHA:1063
Cutaneous Small Vessel Vasculitis
Vasculitis, Purpura, Cutis marmorata, Erythema, Urticaria ORPHA:889
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Burn-Mckeown Syndrome
Short palpebral fissure, Ventricular septal defect, Blepharophimosis, Atrial septal defect, Lower... OMIM:608572
Ablepharon Macrostomia Syndrome
Cryptophthalmos, Absent eyelashes, Fine hair, Ablepharon, Breast hypoplasia, Redundant skin, Abse... ORPHA:920
Bernard-Soulier Syndrome
Abnormal bleeding, Purpura, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal hemorrhag... OMIM:231200
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Petechiae, Purpura, Acrocyanosis, Erythema, Prolonged neonatal jaundice, Vasculitis OMIM:225750
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2521
Pseudo-Torch Syndrome 1
Patent foramen ovale, Jaundice, Umbilical hernia, Petechiae OMIM:251290
Restrictive Dermopathy
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Sparse hair, Telecanthus, Short palpebral... ORPHA:1662
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Torticollis, Arthrogryposis multiplex congenita, Natal tooth OMIM:217150
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Bruising susceptibility, Epistaxis, Petechiae, Persistent bleeding after trauma OMIM:300367
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Primary Myelofibrosis
Petechiae, Abnormal bleeding, Purpura, Ecchymosis, Pallor, Portal hypertension ORPHA:824
Acquired Purpura Fulminans
Macular purpura, Pyoderma gangrenosum, Acrocyanosis, Intracranial hemorrhage, Internal hemorrhage... ORPHA:49566
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Carey-Fineman-Ziter Syndrome 2
Long philtrum, Abnormal skeletal muscle morphology, Velopharyngeal insufficiency, Hypomimic face,... OMIM:619941
Wiskott-Aldrich Syndrome
Sudden cardiac death, Conjunctivitis, Urticaria, Petechiae, Skin ulcer, Purpura, Intracranial hem... ORPHA:906
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ... OMIM:613679
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Acrofacial Dysostosis, Cincinnati Type
Downslanted palpebral fissures, Lower eyelid coloboma, Upper eyelid coloboma, Ablepharon OMIM:616462
Sepsis In Premature Infants
Hypotension, Cyanosis, Premature birth, Caesarian section, Petechiae, Jaundice, Prenatal maternal... ORPHA:90051
Frontofacionasal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Encephalocele, Blepharophimosis, Limbal dermoid, Ptosis, Upper... ORPHA:1791
Epidermolysis Bullosa Simplex 5A, Ogna Type
Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormal bleeding, Petechiae OMIM:612840
Oculotrichoanal Syndrome
Nasolacrimal duct obstruction, Upper eyelid coloboma, Cryptophthalmos, Abnormal hair pattern ORPHA:2717
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Meningococcal Meningitis
Hypotension, Purpura, Shock, Petechiae ORPHA:33475
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Sparse eyelashes, Lower eyelid coloboma, Alopecia OMIM:616367
Richieri-Costa/Guion-Almeida Syndrome
Downslanted palpebral fissures, Palmoplantar cutis laxa, Spina bifida occulta, Ptosis, Eyelid col... OMIM:268850
Complement Component 4A Deficiency
Cutaneous photosensitivity, Purpura, Vasculitis OMIM:614380
Griscelli Syndrome Type 2
Hypopigmentation of hair, Jaundice, Premature graying of hair, Petechiae ORPHA:79477
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae OMIM:187800
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Cerebral hemorrhage OMIM:614514
Fraser Syndrome 3
Cryptophthalmos, Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Oligohydram... OMIM:617667
Sprengel Deformity
Shoulder muscle hypoplasia, Neck muscle hypoplasia OMIM:184400
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation ORPHA:369840
X-Linked Intellectual Disability, Seemanova Type
High palate, Skeletal muscle atrophy, Hypoplasia of the musculature ORPHA:85323
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Abnormal hair morphology, Eyelid coloboma, Telecanthus OMIM:607597
Alg9-Cdg
Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outfl... ORPHA:79328
Ablepharon-Macrostomia Syndrome
Cryptophthalmos, Absent eyelashes, Premature skin wrinkling, Single umbilical artery, Absent lanu... OMIM:200110
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Prolon... OMIM:153670
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Ankyloblepharon, Cryptophthalmos OMIM:123570
Encephalocraniocutaneous Lipomatosis
Subvalvular aortic stenosis, Alopecia, Ventricular septal defect, Limbal dermoid, Atrial septal d... OMIM:613001
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Orthostatic Hypotensive Disorder, Streeten Type
Orthostatic hypotension, Syncope, Bruising susceptibility, Facial erythema OMIM:143850
Ehlers-Danlos Syndrome, Classic Type, 2
Fragile skin, Bruising susceptibility, Epicanthus OMIM:130010
Kanzaki Disease
Petechiae, Lymphedema, Tortuosity of conjunctival vessels, Telangiectasia of the oral mucosa, Lac... OMIM:609242
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Hydranencephaly, Joint contracture, Intrauterine growth retardatio... OMIM:225790
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Hermansky-Pudlak Syndrome 1
Albinism, Bruising susceptibility, Ecchymosis, Epistaxis, Hypopigmentation of hair, Gingival blee... OMIM:203300
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Anophthalmia Plus Syndrome
Spina bifida, Blepharophimosis, Eyelid coloboma ORPHA:1104
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Premature birth, Umbilical cord hematoma, Poor wound healing, Hemoperitoneum, Subcutaneous hemorr... ORPHA:465
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Ventricular septal defect, Abnormal heart morphology, Large placenta, Umbilical h... ORPHA:254534
Familial Hemophagocytic Lymphohistiocytosis
Petechiae, Jaundice, Purpura, Bruising susceptibility, Ecchymosis ORPHA:540
Hemochromatosis, Type 3
Purpura, Cardiomyopathy OMIM:604250
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Urticaria, Petechiae, Vasculitis OMIM:603909
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Ptosis, Thick eyebrow OMIM:619736
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the eyebrow, Ankyloblepharon, Alopecia totalis, Popliteal pterygium, Eyelid... ORPHA:1234
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Petechiae, Nail dystrophy, Intrauterine growth retardation, Premature birth OMIM:620133
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Skin ulcer, Purpura, Subcutaneous hemorrhage ORPHA:743
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip ORPHA:2736
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Iga Nephropathy, Susceptibility To, 1
Purpura, Hypertension OMIM:161950
Boutonneuse Fever
Petechiae, Vasculitis ORPHA:83313
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... OMIM:277450
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Ectropion of lower eyelids, Supernumerary nipple, Eyelid coloboma ORPHA:246
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Intrauterine growth retardation, Oligohydramnios ORPHA:397590
Frontonasal Dysplasia 3
Sparse eyelashes, Upper eyelid coloboma, Absent eyebrow OMIM:613456
Roch-Leri Mesosomatous Lipomatosis
Purpura ORPHA:529
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Amyotrophy of ankle musculature, Upper limb amyotrophy, Distal lower limb amyotrophy, Intrinsic h... ORPHA:90103
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Purpura, Petechiae OMIM:605432
Fraser Syndrome 1
Cryptophthalmos, Myelomeningocele, Encephalocele, Absent eyelashes, Lacrimal duct aplasia, Malfor... OMIM:219000
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Transient ischemic attack, Purpura, Congestive hea... ORPHA:183
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Coffin-Siris Syndrome 11
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... OMIM:618779
Ehlers-Danlos Syndrome, Periodontal Type, 2
Bruising susceptibility, Prominent superficial veins, Fragile skin, Gingival bleeding, Umbilical ... OMIM:617174
Hemorrhagic Fever-Renal Syndrome
Hypotension, Petechiae, Pulmonary edema, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis... ORPHA:340
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Osteopetrosis, Autosomal Recessive 4
Petechiae OMIM:611490
Hereditary Amyloidosis With Primary Renal Involvement
Petechiae, Purpura, Hypertension, Congestive heart failure, Gastrointestinal hemorrhage ORPHA:85450
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Poor wound healing, Gastrointestinal hemorrhage OMIM:262800
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Warfarin-induced skin necrosis, Purpura ORPHA:745
Gorlin-Chaudhry-Moss Syndrome
Abnormal eyelid morphology, Upper eyelid coloboma, Coarse hair, Umbilical hernia, Generalized hir... ORPHA:2095
Complement Component 2 Deficiency
Purpura OMIM:217000
Marburg Hemorrhagic Fever
Hypotension, Hypovolemia, Petechiae, Jaundice, Abnormal bleeding, Bruising susceptibility, Intern... ORPHA:99826
Acrofrontofacionasal Dysostosis
Downslanted palpebral fissures, Ptosis, Aplasia/Hypoplasia of the eyebrow, Eyelid coloboma ORPHA:1784
Pituitary Adenoma 4, Acth-Secreting
Facial erythema, Striae distensae, Purpura, Hypertension, Bruising susceptibility, Ecchymosis, Ed... OMIM:219090
Carey-Fineman-Ziter Syndrome 1
Flexion contracture, Pierre-Robin sequence, High palate, Pectoralis hypoplasia, Hypoplasia of the... OMIM:254940
Congenital Fibrinogen Deficiency
Cyanosis, Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Left ventricular hypertroph... ORPHA:335
Thrombocytopenia 2
Bruising susceptibility OMIM:188000
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility OMIM:614200
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular mu... OMIM:181405
Immunodeficiency 81
Petechiae OMIM:619374
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Subcutaneous hemorrhage ORPHA:1980
Hermansky-Pudlak Syndrome 6
Albinism, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614075
Manitoba Oculotrichoanal Syndrome
Nasolacrimal duct obstruction, Abnormal hair morphology, Eyelid coloboma OMIM:248450
Momo Syndrome
Downslanted palpebral fissures, Eyelid coloboma, Cutis marmorata, Epicanthus OMIM:157980
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Tachycardia, Abnormal left ventricular functio... ORPHA:99827
Mixed Connective Tissue Disease
Pulmonary arterial hypertension, Alopecia, Keratoconjunctivitis sicca, Purpura, Pericarditis, Xer... ORPHA:809
Kaposiform Lymphangiomatosis
Pericardial effusion, Epidural hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis... ORPHA:464329
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Mirage Syndrome
Intracranial hemorrhage, Intrauterine growth retardation, Petechiae OMIM:617053
Fetal Akinesia Deformation Sequence 1
Short palpebral fissure, Polyhydramnios, Fetal akinesia sequence, Premature birth, Blepharophimos... OMIM:208150
Jacobsen Syndrome
Ventricular septal defect, Epicanthus, Atrial septal defect, Ptosis, Eyelid coloboma, Abnormal ey... OMIM:147791
Restrictive Dermopathy 1
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Sparse eyelashes, Short palpebral fissure... OMIM:275210
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Long eyelashes, Epicanthus OMIM:615877
Simple Cryoglobulinemia
Raynaud phenomenon, Purpura, Congestive heart failure, Hypertension, Pericarditis, Myocardial inf... ORPHA:91139
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Agenesis of lateral incisor, Velopharyng... ORPHA:199306
Scalp-Ear-Nipple Syndrome
Cutaneous photosensitivity, Supraventricular tachycardia, Lower eyelid coloboma, Epicanthus, Blep... OMIM:181270
Primary Release Disorder Of Platelets
Spontaneous, recurrent epistaxis, Menorrhagia, Abnormal bleeding, Bruising susceptibility OMIM:176630
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Polyhydramnios, Abnormal conjunctiva morphology, Epicanthus, Blepharophi... ORPHA:3339
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Muscular dystrophy, Macrogyria, Bi... ORPHA:899
Trichohepatoenteric Syndrome 1
Polyhydramnios, Downslanted palpebral fissures, Curly hair, Trichorrhexis nodosa, Ventricular sep... OMIM:222470
Livedoid Vasculopathy
Macular purpura, Pedal edema, Ischemic stroke, Skin ulcer, Hypertension, Cutis marmorata, Ecchymo... ORPHA:542643
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Native American Myopathy
High palate, Muscle fiber atrophy, Bifid uvula, Camptodactyly, Abnormality of skeletal muscle fib... ORPHA:168572
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Smooth philtrum, Esophageal atresia OMIM:614526
Nager Syndrome
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis, Sparse lower eyelashes... ORPHA:245
Jacobsen Syndrome
Premature birth, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ventricular s... ORPHA:2308
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Dental malocclusion... OMIM:305620
Lujo Hemorrhagic Fever
Hypotension, Cerebral edema, Facial edema, Purpura, Subconjunctival hemorrhage, Ecchymosis, Shock... ORPHA:319213
Anti-Glomerular Basement Membrane Disease
Purpura, Vasculitis ORPHA:375
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Increased placental thickness, Nonimmune hydrop... ORPHA:1041
Helsmoortel-Van Der Aa Syndrome
Short palpebral fissure, Downslanted palpebral fissures, High anterior hairline, Bilateral ptosis... OMIM:615873
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Congenital Muscular Dystrophy With Intellectual Disability
Limb-girdle muscle weakness, Multiple joint contractures, Calf muscle hypertrophy, Reduced muscle... ORPHA:370968
Fraser Syndrome 2
Cryptophthalmos OMIM:617666
Craniofaciofrontodigital Syndrome
Polyhydramnios, Palmoplantar cutis laxa, Epicanthus, Pericardial effusion, Thick hair, Persistent... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Momo Syndrome
Downslanted palpebral fissures, Eyelid coloboma, Cutis marmorata, Epicanthus ORPHA:2563
Oculocerebrocutaneous Syndrome
Ptosis, Eyelid coloboma, Alopecia ORPHA:1647
Classical Ehlers-Danlos Syndrome
Epicanthus, Fragile skin, Arterial rupture, Prolonged bleeding time, Prematurely aged appearance,... ORPHA:287
Thrombocytopenia 1
Bruising susceptibility, Epistaxis, Petechiae, Joint hemorrhage OMIM:313900
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... ORPHA:326
Noonan Syndrome 4
Polyhydramnios, Downslanted palpebral fissures, Sparse eyebrow, High anterior hairline, Ventricul... OMIM:610733
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Arterial rupture, Follicular hyperkeratosis, Bruising susceptibility ORPHA:300179
Sweeney-Cox Syndrome
Patent foramen ovale, Polyhydramnios, Widow's peak, Upper eyelid coloboma, Generalized hirsutism,... OMIM:617746
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyebrow, Cranium bifidum occultum, Epicanthus, Widow's peak, Ptosis, Eyelid coloboma, Spar... ORPHA:306542
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Purpura, Acrocyanosis, Erythema, Gastrointestinal hemorrhage, Urticaria ORPHA:343
Oculoectodermal Syndrome
Epicanthus, Transient ischemic attack, Lymphedema, Limbal dermoid, Supernumerary nipple, Atrial s... OMIM:600268
Bleeding Disorder In Hemophilia A Carriers
Post-partum hemorrhage, Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged bleeding... ORPHA:177926
Autoerythrocyte Sensitization Syndrome
Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Edema, Oral cavity bleed... ORPHA:324636
Waldenström Macroglobulinemia
Pedal edema, Retinal hemorrhage, Purpura, Congestive heart failure, Cutis marmorata, Pallor, Pleu... ORPHA:33226
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effusion, Bicuspid aortic valve... OMIM:239850
Orofaciodigital Syndrome Xix
Lobulated tongue, High palate, Narrow palate, Cleft soft palate, Tongue nodules, Microdontia, Hyp... OMIM:620107
Chikungunya
Pedal edema, Cutaneous photosensitivity, Skin vesicle, Petechiae, Raynaud phenomenon, Abnormal bl... ORPHA:324625
3Mc Syndrome 2
Partial abdominal muscle agenesis, Diastasis recti, Cleft upper lip, High palate, Torticollis, Hy... OMIM:265050
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Knee flexion contracture, Distal arthrogryposis, Decreased muscle mass, ... OMIM:114300
Immunodeficiency, Common Variable, 6
Purpura OMIM:613496
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Mitral valve prolapse, Bruising susceptibility, Epistaxis, Meno... OMIM:193400
Aicardi-Goutières Syndrome
Arrhinencephaly, Raynaud phenomenon, Acrocyanosis, Cutis marmorata, Hypertrophic cardiomyopathy, ... ORPHA:51
Treacher Collins Syndrome 1
Downslanted palpebral fissures, Lacrimal duct stenosis, Preauricular hair displacement, Ptosis, U... OMIM:154500
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Hepatocellular carcinoma, Hypoplasia of the... ORPHA:231226
Viss Syndrome
Polyhydramnios, Fetal distress, Hirsutism, Patent foramen ovale, Double outlet right ventricle, A... OMIM:619472
Neu-Laxova Syndrome
Abnormality of the philtrum, Flexion contracture, Abnormality of neuronal migration, Abnormal cor... ORPHA:2671
Acquired Von Willebrand Syndrome
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, ... ORPHA:99147
Constricting Bands, Congenital
Eyelid coloboma, Encephalocele, Ectopia cordis OMIM:217100
Thrombocytopenia 3
Epistaxis, Petechiae OMIM:273900
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Oligodontia, Dental crowding, ... OMIM:616331
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Cyanosis, Hydrops fetalis, Chylopericardium, Congestive heart fa... ORPHA:2414
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Mitral atresia, Abnormal cardiac septum morphology, Aortic regurgitation, Eyelid coloboma, Teleca... ORPHA:140952
Proboscis Lateralis
Abnormal nasolacrimal system morphology, Abnormal location of the eyebrow, Abnormal eyebrow morph... ORPHA:141099
Bacterial Toxic-Shock Syndrome
Hypotension, Ecchymosis, Shock, Edema, Scaling skin, Capillary leak, Myocarditis, Tachycardia ORPHA:36234
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Abnormality of the umbilical cord, Intracranial hemorrhage, Bruising susc... ORPHA:327
Birk-Barel Syndrome
High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion OMIM:612292
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Epicanthus, Narrow palpebral fissure, Redundant neck skin, Large placenta, Intrau... ORPHA:254528
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Ventricular septal defect, Eyelid coloboma ORPHA:268249
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Cranium bifidum occultum, Blepharophimosis, Ankyloblepharon, Ptosis,... OMIM:229400
Idiopathic Aplastic Anemia
Epistaxis, Retinal hemorrhage, Gingival bleeding, Ecchymosis ORPHA:88
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Hypodontia, Submucous cleft hard palate, High, narrow palate, Glossoptosis ORPHA:3201
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Small hypothenar eminence, Hypoplasia of the musculature, Narrow mouth, Thenar muscl... ORPHA:2463
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Downslanted palpebral fissures, Mitral valve prolapse, Atrial septal defect, Bruising susceptibil... OMIM:601776
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Hepatocellular carcinoma, Hypoplasia of the... ORPHA:231214
Bleeding Disorder, Platelet-Type, 18
Bruising susceptibility, Epistaxis, Menorrhagia, Prolonged bleeding time, Prolonged bleeding afte... OMIM:615888
Marinesco-Sjögren Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal mus... ORPHA:559
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse, Bruising susceptibility, Spina bifida occulta, Gastrointestinal hemorrhage... ORPHA:230839
Fraser Syndrome
Cryptophthalmos, Myelomeningocele, Encephalocele, Lacrimal duct aplasia, Malformed lacrimal duct,... ORPHA:2052
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Premature birth, Downslanted palpebral fissures, Blepharochalasis, Gingival hyperkeratosis, Derma... OMIM:225410
Afibrinogenemia, Congenital
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... OMIM:202400
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... OMIM:614702
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Menorrhagia OMIM:616176
Congenital Tricuspid Valve Dysplasia
Cyanosis, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Premature birth, Pericardial... ORPHA:555874
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Ehlers-Danlos Syndrome, Classic-Like, 2
Bilateral ptosis, Mitral valve prolapse, Thin eyebrow, Bruising susceptibility, Prominent superfi... OMIM:618000
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Glanzmann Thrombasthenia 2
Abnormal bleeding, Bruising susceptibility, Epistaxis, Menorrhagia, Prolonged bleeding time, Prol... OMIM:619267
Noonan Syndrome 13
Downslanted palpebral fissures, Lymphedema, Epicanthus, Broad eyebrow, Mitral valve prolapse, Bru... OMIM:619087
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... OMIM:617412
Q Fever
Endocarditis, Pericardial effusion, Purpura, Pericarditis, Pleural effusion, Abnormal left ventri... ORPHA:781
Noonan Syndrome 14
Polyhydramnios, Downslanted palpebral fissures, Lacrimal duct stenosis, Sparse eyebrow, Curly hai... OMIM:619745
Stormorken-Sjaastad-Langslet Syndrome
Purpura ORPHA:3204
Oculofaciocardiodental Syndrome
Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Flexion contracture of ... ORPHA:2712
Cinca Syndrome
Edema, Purpura, Premature birth, Urticaria ORPHA:1451
Moderate Hemophilia A
Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Bleedin... ORPHA:169805
Severe Hemophilia A
Poor wound healing, Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhag... ORPHA:169802
Acrofacial Dysostosis 1, Nager Type
Downslanted palpebral fissures, Ventricular septal defect, Absent lower eyelashes, Sparse lower e... OMIM:154400
Poliomyelitis
Abnormal skeletal muscle morphology, Lower limb muscle weakness, Paralytic ileus, Hypoplasia of t... ORPHA:2912
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Downslanted palpebral fissures, Exencephaly, Encephalocele, Ptosis, Eyelid coloboma ORPHA:2211
Branchioskeletogenital Syndrome
Downslanted palpebral fissures, Blepharochalasis, Synophrys, Absent nipple, Eyelid coloboma, High... ORPHA:1299
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Cleft soft palate, Camptodactyly, Absent uvula, Triangular mouth, Gingival overgro... OMIM:618529
Wiskott-Aldrich Syndrome
Small vessel vasculitis, Petechiae, Large vessel vasculitis, Purpura, Epistaxis, Hematemesis, Gin... OMIM:301000
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Menorrhagia, Bruising susceptibility OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Menorrhagia, Bruising susceptibility OMIM:613554
Immunoglobulin A Vasculitis
Skin ulcer, Purpura, Bruising susceptibility, Edema, Gastrointestinal hemorrhage, Erythema, Vascu... ORPHA:761
Amish Lethal Microcephaly
Spina bifida, Cleft soft palate, Hepatomegaly ORPHA:99742
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility ORPHA:721
Rin2 Syndrome
Downslanted palpebral fissures, Sparse scalp hair, Bruising susceptibility, Redundant skin, Hirsu... ORPHA:217335
Mosaic Trisomy 16
Premature birth, Ventricular septal defect, Maternal diabetes, Atrial septal defect, Abnormal hea... ORPHA:1708
Kasabach-Merritt Syndrome
Hypertrichosis, Purpura, Prolonged prothrombin time, Petechiae ORPHA:2330
22Q11.2 Deletion Syndrome
Meningocele, Polyhydramnios, Truncus arteriosus, Epicanthus, Telecanthus, Ventricular septal defe... ORPHA:567
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Supernumerary nipple, Eyelid coloboma, Ectropion OMIM:263750
Hardikar Syndrome
Cleft soft palate, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Celiac... OMIM:301068
Congenital Fiber-Type Disproportion Myopathy
Knee flexion contracture, Flexion contracture, Hip contracture, High palate, Elbow flexion contra... ORPHA:2020
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Knee flexion contracture ORPHA:166016
Ehlers-Danlos Syndrome, Classic Type, 1
Premature birth following premature rupture of fetal membranes, Epicanthus, Mitral valve prolapse... OMIM:130000
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, High, narrow palate ORPHA:209908
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Blepharochalasis, Cutis laxa, Bilateral pto... ORPHA:85448
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Sparse eyebrow, Epicanthus, Pericardial effusion, Decreased fetal movement, Long ... OMIM:620070
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
X-Linked Ehlers-Danlos Syndrome
Bruising susceptibility, Umbilical hernia ORPHA:75497
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Congenital diaphragmatic hernia, Thick vermilion border ORPHA:250999
Relapsing Polychondritis
Conjunctivitis, Alopecia, Large vessel vasculitis, Abnormal aortic valve morphology, Purpura, Per... ORPHA:728
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Hermansky-Pudlak Syndrome 3
Albinism, Spontaneous, recurrent epistaxis, Abnormal bleeding, Bruising susceptibility, Hypopigme... OMIM:614072
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cyanosis, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biven... OMIM:261740
Treacher-Collins Syndrome
Downslanted palpebral fissures, Blepharospasm, Encephalocele, Absent eyelashes, Eyelid coloboma, ... ORPHA:861
Shigellosis
Conjunctivitis, Purpura, Hypovolemic shock, Dehydration, Myocarditis, Urticaria ORPHA:810
Hydrolethalus
Gingival cleft, Arrhinencephaly, Bifid uvula, Submucous cleft hard palate, Anencephaly, Cleft pal... ORPHA:2189
Scorpion Envenomation
Pulmonary edema, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, Purp... ORPHA:466677
Scalp-Ear-Nipple Syndrome
Hypertension, Breast aplasia, Eyelid coloboma, Palpebral edema, Sparse hair, Telecanthus ORPHA:2036
Factor V Deficiency
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... OMIM:227400
Factor Vii Deficiency
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... OMIM:227500
Arterial Tortuosity Syndrome
Short palpebral fissure, Ventricular hypertrophy, Downslanted palpebral fissures, Ischemic stroke... OMIM:208050
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation, Bruising susceptibility OMIM:225320
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Submucous cleft hard palate, Protruding tongue, Facial hypotonia, Dental... OMIM:618106
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Bacterial endocarditis, Spontaneous, recurrent epistaxis, Skin u... ORPHA:2072
Cushing Disease
Pedal edema, Striae distensae, Sparse scalp hair, Capillary fragility, Skin ulcer, Purpura, Hyper... ORPHA:96253
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Bruising susceptibility OMIM:137560
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate OMIM:609166
Loeys-Dietz Syndrome 5
Congenital finger flexion contractures, Decreased muscle mass, High palate, Cleft soft palate, Eo... OMIM:615582
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Raynaud phenomenon, Purpura, Dilated cardiomyopathy, Hypertension, Skin ulcer, Cutis marmorata, L... OMIM:615688
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Mitral valve prolapse, Left ventricular hypertrophy, Atrial septal defec... ORPHA:230851
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate OMIM:619239
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Hypoplasia of the musculature, Umbilical hernia ORPHA:1101
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... ORPHA:35909
Pseudoxanthoma Elasticum
Sudden cardiac death, Retinal hemorrhage, Lack of skin elasticity, Restrictive cardiomyopathy, St... ORPHA:758
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Joint contracture of the hand, Elbow flexion ... ORPHA:1826
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Bruising susceptibility, Epistaxis, Myocardial infarction, Menorrhagia, Prolon... OMIM:155100
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Submucous cleft hard palate, Unilateral cleft palate, Unilateral cleft lip OMIM:619122
Bleeding Disorder, Platelet-Type, 22
Excessive bleeding from superficial cuts, Subcutaneous hemorrhage OMIM:618462
Charge Syndrome
Polyhydramnios, Abnormal cardiac septum morphology, Epicanthus, Abnormal aortic valve morphology,... ORPHA:138
Microscopic Polyangiitis
Subcutaneous hemorrhage, Skin ulcer, Congestive heart failure, Cutis marmorata, Pericarditis, Epi... ORPHA:727
Granulomatosis With Polyangiitis
Cerebral ischemia, Skin ulcer, Purpura, Angina pectoris, Hypertension, Periorbital edema, Pericar... ORPHA:900
Faundes-Banka Syndrome
Downslanted palpebral fissures, Sparse scalp hair, Epicanthus, Hypoplasia of the lower eyelids, B... OMIM:619376
Hemophilia A
Intracranial hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Joint swelling, ... ORPHA:98878
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Dermal translucency, Bruising susceptibility, Atrial septal defect, Arterial rupture, Poor wound ... OMIM:619115
Kagami-Ogata Syndrome
Polyhydramnios, Blepharophimosis, Frontal hirsutism, Large placenta, Premature birth ORPHA:254519
Macs Syndrome
Downslanted palpebral fissures, Sparse eyebrow, Alopecia, Cutis laxa, Epicanthus, Bruising suscep... OMIM:613075
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Camptodactyly, Submucous cleft hard palate,... ORPHA:2804
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Downslanted palpebral fissures, Bruising susceptibility ORPHA:157965
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Bruising susceptibility, Epistaxis, Menorrha... OMIM:277480
Myelofibrosis
Purpura, Pallor OMIM:254450
Hermansky-Pudlak Syndrome 7
Post-partum hemorrhage, Albinism, Bruising susceptibility, Epistaxis, Menorrhagia, Prolonged blee... OMIM:614076
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Downslanted palpebral fissures, Cerebral hemorrhage, Epicanth... ORPHA:536545
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate OMIM:619314
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Al Amyloidosis
Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal P wave, Bruising susceptibilit... ORPHA:85443
Multiple Pterygium Syndrome, X-Linked
Amyoplasia, Cleft palate, Cleft upper lip, Flexion contracture OMIM:312150
Cutis Marmorata Telangiectatica Congenita
Subcutaneous hemorrhage, Purpura, Cutis marmorata, Telangiectasia of the skin, Ascites, Intrauter... ORPHA:1556
Noonan Syndrome 3
Patent foramen ovale, Polyhydramnios, Downslanted palpebral fissures, Ventricular septal defect, ... OMIM:609942
Marfanoid-Progeroid-Lipodystrophy Syndrome
Premature birth, Downslanted palpebral fissures, Reduced subcutaneous adipose tissue, Mitral valv... OMIM:616914
Congenital Alpha2-Antiplasmin Deficiency
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... ORPHA:79
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Breech presentation, Poor wound healing, Bruising susceptibility OMIM:130060
Hemophilia A
Muscle hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage OMIM:306700
Schilbach-Rott Syndrome
Bifid uvula, Submucous cleft hard palate, Narrow mouth OMIM:164220
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Polyhydramnios, Short palpebral fissure, Spinal dysraphism, Prem... ORPHA:96334
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Bruising susceptibility, Epica... ORPHA:98791
Slc35A1-Cdg
Prolonged bleeding time, Pulmonary hemorrhage, Abnormal bleeding, Subcutaneous hemorrhage ORPHA:238459
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Intestinal malrotation,... OMIM:614701
Ehlers-Danlos Syndrome, Vascular Type
Hemothorax, Dermal translucency, Mitral valve prolapse, Diffuse alveolar hemorrhage, Bruising sus... OMIM:130050
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Anencephaly, Oligohydramnios, Breech presentation, Ptosis, Ep... OMIM:249000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Hypodontia,... ORPHA:1071
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Alopecia totalis, ... OMIM:618775
Hermansky-Pudlak Syndrome
Abnormal bleeding, Long eyelashes, Bruising susceptibility, Epistaxis, Hypopigmentation of hair, ... ORPHA:79430
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Fetal distress, Abnormal blee... ORPHA:292
Cerebrocostomandibular Syndrome
Pierre-Robin sequence, Cleft soft palate, High palate, Long philtrum, Elbow flexion contracture, ... OMIM:117650
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Epistaxis, Intestinal bleeding, Menorrhagia, Joint hemorrhage OMIM:605735
Zika Virus Disease
Conjunctivitis, Edema, Intrauterine growth retardation, Subcutaneous hemorrhage ORPHA:448237
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Downslanted palpebral fissures, Ventricular septal defect, Atrial septal defect, ... OMIM:268300
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage, Subcutaneous hemorrhage OMIM:603585
Hereditary Hemorrhagic Telangiectasia
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... ORPHA:774
Cutis Laxa, Autosomal Recessive, Type Iib
Lack of skin elasticity, Downslanted palpebral fissures, Bruising susceptibility, Prominent super... OMIM:612940
Postinfectious Vasculitis
Bacterial endocarditis, Ischemic stroke, Cerebral vasculitis, Raynaud phenomenon, Vasculitis in t... ORPHA:48435
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Bifid uvula, Submucous cleft hard palate, Cleft palate, High, narrow p... ORPHA:2780
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Wrinkly Skin Syndrome
Short stature, Short nail, Hypoplasia of the musculature, Scapular winging, Sparse hair, Intraute... OMIM:278250
Greenberg Dysplasia
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Echogenic fetal bowel, Stillbirth, La... OMIM:215140
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Cleft palate, Flexion contracture OMIM:253290
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Prominent superficial veins, Downslanted palpebral fissures, Bruising susceptibility OMIM:612350
Ehlers-Danlos Syndrome, Classic-Like
Striae distensae, Mitral valve prolapse, Bruising susceptibility, Poor wound healing, Quadricuspi... OMIM:606408
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Downslanted palpebral fissures, Palmoplantar cutis laxa, Epicanthus, Decreased fetal movement, Co... OMIM:225400
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Unilateral cleft palate, Unil... OMIM:619103
Orofaciodigital Syndrome Type 10
Long philtrum, Cleft soft palate, Accessory oral frenulum ORPHA:2756
Brucellosis
Endocarditis, Transient ischemic attack, Abnormal aortic valve morphology, Purpura, Pericarditis,... ORPHA:1304
Myhre Syndrome
Gingival cleft, Abnormal lip morphology, Bifid uvula, Submucous cleft hard palate, Narrow mouth, ... ORPHA:2588
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Hypovolemia, Transient ischemic attack, Bicuspid aortic valve, Prenatal maternal... ORPHA:91387
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Bruising susceptibility, Myocardial infarction, Menorrhagia, Pr... ORPHA:182050
Treacher Collins Syndrome 2
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:613717
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furrow, Oligodontia,... OMIM:608670
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Submucous cleft hard palate, Long philtrum, Abnormality of the dentition ORPHA:178303
Spondyloenchondrodysplasia With Immune Dysregulation
Raynaud phenomenon, Purpura, Joint swelling OMIM:607944
Loeys-Dietz Syndrome 4
Downslanted palpebral fissures, Striae distensae, Bicuspid aortic valve, Mitral valve prolapse, B... OMIM:614816
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Gaucher Disease Type 1
Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Bruising susceptibility, Ging... ORPHA:77259
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Purpura, Hypertension OMIM:235400
Hermansky-Pudlak Syndrome 4
Albinism, Abnormal bleeding, Bruising susceptibility, Epistaxis, Menorrhagia OMIM:614073
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Flexion contracture, Submucous cleft hard palate OMIM:222765
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Myopathy, Skeletal muscle atrophy, Cleft soft palate, Type 1 muscle fiber predominance OMIM:614557
Isolated Arrhinia
Eyelid coloboma ORPHA:1134
Cushing Syndrome Due To Ectopic Acth Secretion
Pedal edema, Striae distensae, Sparse scalp hair, Capillary fragility, Skin ulcer, Purpura, Hyper... ORPHA:99889
Orofaciodigital Syndrome Type 2
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... ORPHA:2751
Musculocontractural Ehlers-Danlos Syndrome
Downslanted palpebral fissures, Subcutaneous hemorrhage, Abnormal bleeding, Bruising susceptibili... ORPHA:2953
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hypertension, Bruising susceptibility, Dorsocervical fat pad, Fragile skin, Hirsutism OMIM:615830
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Bilateral ptosis, Pericardial effusion, Mitral valve prolapse, Keratoconjunctivitis sic... ORPHA:536532
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Arterial rupture, Poor wound healing, Bruising susceptibility, Dermal translucency OMIM:619120
Marden-Walker Syndrome
Camptodactyly of finger, Muscular dystrophy, Pyloric stenosis, Bifid uvula, Submucous cleft hard ... ORPHA:2461
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Dermal translucency, Bruising susceptibility, Premature rupture of membranes, Upslanted palpebral... OMIM:618343
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Downturned corners of mouth, Submucous cleft hard palate, Torticollis OMIM:619680
Stickler Syndrome, Type I
Pierre-Robin sequence, Cleft palate, Bifid uvula, Submucous cleft hard palate OMIM:108300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Cleft soft palate, Wide mouth, Widely spaced teeth, Deep philtrum, Microdontia, Ankyloglossia, Li... OMIM:619950
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Isolated Cleft Lip
Non-midline cleft lip, Supernumerary maxillary incisor, Bilateral cleft lip, Hypodontia, Velophar... ORPHA:199302
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:601709
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... OMIM:619313
Attenuated Chédiak-Higashi Syndrome
Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility ORPHA:352723
Polycythemia Vera
Pulmonary embolism, Intermittent claudication, Angina pectoris, Bruising susceptibility, Hyperten... ORPHA:729
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Bifid uvula, Submucous cleft hard palate OMIM:617660
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Long philtrum, Pyloric stenosis, Submucous cleft hard palate, Thin upper lip vermili... ORPHA:457279
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Intracranial hemorrhage, Bruising susceptibility, Pallor, Prolonged bleeding time ORPHA:3226
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Hypoplasia of eyelid, Intrauterine growth retardation OMIM:619321
Ehlers-Danlos Syndrome, Periodontal Type, 1
Palmoplantar cutis laxa, Bruising susceptibility, Prominent superficial veins, Fragile skin, Ging... OMIM:130080
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Bifid uvula, Submucous cleft hard palate, Thin upper lip vermilion, Na... OMIM:300990
Limb-Mammary Syndrome
Hypodontia, Bifid uvula, Submucous cleft soft palate, Cleft lip, Cleft hard palate, Cleft palate ORPHA:69085
Beckwith-Wiedemann Syndrome
Polyhydramnios, Subchorionic septal cyst, Hypertrophic cardiomyopathy, Redundant skin, Large plac... ORPHA:116
Primary Sjögren Syndrome
Vasculitis, Raynaud phenomenon, Purpura, Skin ulcer, Cutis marmorata, Keratoconjunctivitis sicca,... ORPHA:289390
Hermansky-Pudlak Syndrome 11
Albinism, Fair hair, Bruising susceptibility, Epistaxis, Gingival bleeding, Menorrhagia OMIM:619172
Alpha-2-Plasmin Inhibitor Deficiency
Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma OMIM:262850
Velocardiofacial Syndrome
Pierre-Robin sequence, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate, O... OMIM:192430
Adiposis Dolorosa
Sparse axillary hair, Bruising susceptibility, Sparse pubic hair, Xerostomia, Telangiectasia of t... ORPHA:36397
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Bruising susceptibility ORPHA:231401
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Cyanosis, Hemothorax, Pulmonary edema, Pericardi... ORPHA:199241
Contractural Arachnodactyly, Congenital
Knee flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Dist... OMIM:121050
Double Outlet Right Ventricle
Intestinal malrotation, Cleft palate, Narrow mouth, Submucous cleft hard palate ORPHA:3426
Charcot-Marie-Tooth Disease Type 1E
Peroneal muscle atrophy, Distal lower limb amyotrophy, Hand muscle atrophy, Joint contracture of ... ORPHA:90658
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Striae distensae, Abnormal subcutaneous fat tissue distribution, Hypertension, Bruising... ORPHA:189439
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse, Abnormal bleeding, Congestive heart failure, Bruising susceptibility, Frag... ORPHA:1900
Desmosterolosis
Bifid uvula, Submucous cleft hard palate, Intestinal malrotation, Narrow mouth, Cleft palate, Spl... ORPHA:35107
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Purpura, Small vessel vasculitis, Arteritis ORPHA:93126
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Spina bifida occulta,... OMIM:619227
Hermansky-Pudlak Syndrome 5
Albinism, Bruising susceptibility, Epistaxis, Menorrhagia, Prolonged bleeding time OMIM:614074
Meester-Loeys Syndrome
Downslanted palpebral fissures, Striae distensae, Mitral valve prolapse, Bruising susceptibility,... OMIM:300989
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Coarse hair, Bruising susceptibility, Intrauterine growth retardation, Arterial rupture, Shallow ... OMIM:612394
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Epicanthus, Bruising susceptibility, Anemic pallor, Intrauterine growt... OMIM:227645
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Rectovaginal fistula, Bifid uvula, Submucous cleft hard palate, Abnormal... ORPHA:2753
Gray Platelet Syndrome
Abnormal bleeding, Bruising susceptibility, Epistaxis, Menorrhagia, Prolonged bleeding time OMIM:139090
Common Variable Immunodeficiency
Purpura, Vasculitis ORPHA:1572
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, Cleft palate, T... ORPHA:2250
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Conjunctivitis, Bruising susceptibility, Pericarditis, Erythema, Periorbital edema, Abnormal myoc... ORPHA:32960
Craniofacial Microsomia
Branchial anomaly, Ventricular septal defect, Blepharophimosis, Limbal dermoid, Ptosis, Upper eye... OMIM:164210
Cardiofaciocutaneous Syndrome 1
Dental malocclusion, Splenomegaly, High palate, Deep philtrum, Submucous cleft hard palate, Open ... OMIM:115150
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Hermansky-Pudlak Syndrome 8
Albinism, Bruising susceptibility, Epistaxis, Silver-gray hair, Excessive bleeding from superfici... OMIM:614077
Noonan Syndrome 1
Downslanted palpebral fissures, Ventricular septal defect, Lymphedema, Epicanthus, Abnormal bleed... OMIM:163950
Brittle Cornea Syndrome 2
Bruising susceptibility, Umbilical hernia OMIM:614170
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:601399
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Wide mouth, Widely spaced teeth, Short philtrum, Left ventricular noncompaction, Submucous cleft ... OMIM:300967
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Mitral valve prolapse, Pulmonic stenosis, Bruising susceptibility ORPHA:90354
Meier-Gorlin Syndrome 5
Submucous cleft hard palate, Long philtrum, Thick vermilion border OMIM:613805
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Knee flexion contracture, Hip contracture, Wide mouth, Deep philtrum, Microdontia, Elbow flexion ... OMIM:619194
Neuronopathy, Distal Hereditary Motor, Type X
Bruising susceptibility OMIM:620080
Classic Homocystinuria
Pulmonary embolism, Sparse scalp hair, Cerebral ischemia, Subcutaneous hemorrhage, Hypertension, ... ORPHA:394
Stormorken Syndrome
Epistaxis, Subarachnoid hemorrhage, Abnormal bleeding, Bruising susceptibility OMIM:185070
Chédiak-Higashi Syndrome
Cutaneous photosensitivity, Pericardial effusion, Jaundice, Abnormal bleeding, Large clumps of pi... ORPHA:167
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... OMIM:618280
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Lymphedema, Subcutaneous hemorrhage, Intracranial hemorrhage, Angina pectoris, Cu... ORPHA:109
Menkes Disease
Intracranial hemorrhage, Woolly hair, Hypopigmentation of hair, Dry skin, Gastrointestinal hemorr... ORPHA:565
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Flexion contracture, Submucous cleft hard palate, Generalized limb muscle atrophy OMIM:618891
Holoprosencephaly 13, X-Linked
Submucous cleft hard palate, Median cleft lip, Solitary median maxillary central incisor, Cleft p... OMIM:301043
Dubowitz Syndrome
High palate, Delayed eruption of teeth, Velopharyngeal insufficiency, Submucous cleft hard palate... OMIM:223370
Blackfan-Diamond Anemia
Abnormality of the thenar eminence, Adenocarcinoma of the colon, High palate, Cleft soft palate, ... ORPHA:124
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Alopecia, Striae distensae, Hypertension, Bruising susceptibility, Plethora, Dorsocervical fat pa... ORPHA:189427
Acth-Independent Macronodular Adrenal Hyperplasia
Striae distensae, Hypertension, Bruising susceptibility OMIM:219080
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Cleft palate, Hi... ORPHA:2554
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Knee flexion contracture, Enamel hypoplasia, Flexion contracture, High palate, Cleft soft palate,... OMIM:619503
Dubowitz Syndrome
High palate, Wide mouth, Delayed eruption of teeth, Malabsorption, Submucous cleft hard palate, S... ORPHA:235
Pigmented Nodular Adrenocortical Disease, Primary, 2
Striae distensae, Hypertension, Bruising susceptibility OMIM:610475
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, Facial palsy, Bifid uvula, Submucous cleft hard palate, Abnormal dental enamel morpho... ORPHA:2658
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Tolchin-Le Caignec Syndrome
High palate, Narrow mouth, Submucous cleft hard palate, Diastasis recti OMIM:618971
Cholestasis, Progressive Familial Intrahepatic, 6
Bruising susceptibility, Bleeding requiring red cell transfusion OMIM:619484
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal heart morphology, Bruising susceptibility OMIM:600901
Marshall-Smith Syndrome
Generalized hirsutism, Bruising susceptibility ORPHA:561
Wilson Disease
Jaundice, Joint swelling, Bruising susceptibility ORPHA:905
Zttk Syndrome
Absent gallbladder, High palate, Bifid uvula, Submucous cleft hard palate, Short philtrum, Downtu... OMIM:617140
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal heart morphology, Bruising susceptibility OMIM:227650
Vascular Ehlers-Danlos Syndrome
Hypoplastic lacrimal duct, Epicanthus, Abnormal eyelash morphology, Abnormality of hair texture, ... ORPHA:286
Fanconi Anemia, Complementation Group D2
Anemic pallor, Blepharophimosis, Abnormal heart morphology, Bruising susceptibility OMIM:227646
Cardiofaciocutaneous Syndrome
High palate, Submucous cleft hard palate, Long philtrum ORPHA:1340
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Supernumerary tooth, Cleft soft palate, Widely spaced teeth ORPHA:268261
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Jaundice, Bruising susceptibility, Silver-gray hair, Hypopigmen... OMIM:214500
Osteogenesis Imperfecta, Type I
Mitral valve prolapse, Bruising susceptibility OMIM:166200
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Breech presentation, Fragile skin, Bruising susceptibility OMIM:617821
Pigmented Nodular Adrenocortical Disease, Primary, 1
Striae distensae, Hypertension, Bruising susceptibility OMIM:610489
Duane-Radial Ray Syndrome
Aganglionic megacolon, Pectoralis hypoplasia, Anal atresia, Upper limb muscle hypoplasia, Anal st... OMIM:607323
Aneurysm-Osteoarthritis Syndrome
Striae distensae, Left ventricular hypertrophy, Bruising susceptibility, Aortic regurgitation, At... ORPHA:284984
Spondyloepimetaphyseal Dysplasia, Krakow Type
Bruising susceptibility, Atrial septal defect OMIM:618162
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Bruising susceptibility OMIM:112250
Microphthalmia, Syndromic 2
Dental malocclusion, Flexion contracture, Long philtrum, Delayed eruption of teeth, Oligodontia, ... OMIM:300166
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Bruising susceptibility, Pallor, Abnormal pulmonary valve morpho... ORPHA:667
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Campomelic Dysplasia
Irregular dentition, Spinal dysraphism, High palate, Long philtrum, Spina bifida, Submucous cleft...