Gene Summary

Name:
HECT domain E3 ubiquitin protein ligase 1
Synonyms:
b2b327Clo,  A630086P08Rik,  opm

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating calcium level Hectd1tm1b(EUCOMM)Hmgu HET Early adult 5.15×10-10
increased eosinophil cell number Hectd1tm1b(EUCOMM)Hmgu HET Early adult 8.38×10-21
abnormal coat/hair pigmentation Hectd1tm1b(EUCOMM)Hmgu HET Early adult 8.76×10-05
decreased circulating alkaline phosphatase level Hectd1tm1b(EUCOMM)Hmgu HET Early adult 5.75×10-05
increased basophil cell number Hectd1tm1b(EUCOMM)Hmgu HET   Early adult 3.21×10-40

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Hectd1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hectd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect OMIM:212090
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia, Hyperpigmented streaks OMIM:614323
Coronary Artery Dissection, Spontaneous
Cystic medial necrosis, Coronary artery dissection OMIM:122455
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Abnormal coronary artery morphology, Ventr... ORPHA:3400
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Immunodeficiency 88
Eosinophilia OMIM:619630
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve, Aortic root aneurysm OMIM:618496
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis OMIM:185500
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Patent duct... OMIM:619343
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Vascular ring, Ventricular sept... OMIM:601927
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Generalized Eruptive Histiocytosis
Spotty hyperpigmentation, Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Hypopigmentation of hair, Partial albinism ORPHA:90023
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia OMIM:212050
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Patent ductus arteriosus, Thoracic aortic aneurysm, Descendin... OMIM:132900
Adamantinoma
Hypercalcemia ORPHA:55881
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... OMIM:614980
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double out... ORPHA:3304
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve, Coarctation of aorta OMIM:614823
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta, Dextrocardia, Ventricular septal defect OMIM:616145
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Pulmonary ... OMIM:613426
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Hypervitaminosis A, Susceptibility To
Alopecia totalis, Hypercalcemia OMIM:240150
Laubry-Pezzi Syndrome
Patent foramen ovale, Abnormal aortic valve cusp morphology, Patent ductus arteriosus, Aortic val... ORPHA:99094
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Trans... ORPHA:261243
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Patent duc... OMIM:610338
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Abno... ORPHA:477817
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Double outlet r... OMIM:217095
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia OMIM:253600
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation ORPHA:1110
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia,... OMIM:603554
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis OMIM:604091
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Patent ductus arteriosus, A... ORPHA:860
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Hemophagocytosis, Hypopigmentatio... OMIM:607624
Halothane Hepatitis
Eosinophilia OMIM:234350
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Abno... ORPHA:1354
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, Thoracic aortic aneurysm OMIM:616166
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Pulmonic stenosis, Transposition of the great arteries OMIM:617877
Kimura Disease
Eosinophilia ORPHA:482
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia, Ventricul... OMIM:613759
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Ventric... ORPHA:1461
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Alopecia OMIM:618282
Grange Syndrome
Carotid artery stenosis, Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve OMIM:602531
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Grange Syndrome
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus ORPHA:79094
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Elevated circulating C-reactive protein concentra... OMIM:607115
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Transketolase Deficiency
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Abnormal coronary artery co... ORPHA:488618
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... OMIM:616749
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular... ORPHA:1166
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Mucoid extracellular matrix accumulation, Myxomatous mitral valve degeneration, ... OMIM:130090
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Wells Syndrome
Eosinophilia ORPHA:901
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Atrial septal defect, Muscular ventricular septal defect, Abnormal hear... ORPHA:363444
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Coarctation of aorta, Pulmonic stenosis OMIM:614300
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Patent foramen ovale, Double outlet left ventricle, Hypoplastic tricuspid va... OMIM:600001
Noonan Syndrome 9
Coarctation of aorta, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Pyknoachondrogenesis
Stillbirth OMIM:265880
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:126320
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly, Alopecia ORPHA:100025
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Coarctation o... ORPHA:261183
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Nephronophthisis 16
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis,... OMIM:615382
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Cardiac Diverticulum
Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia, Mitral stenosis, Ventricular septal... ORPHA:1686
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Dextrocardia, Single ventricle, Ventricular se... ORPHA:216694
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial sept... OMIM:108900
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis OMIM:615812
Atrial Septal Defect 1
Atrial septal defect, Subvalvular aortic stenosis, Atrial septal dilatation, Ventricular septal d... OMIM:108800
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Fixed Subaortic Stenosis
Patent ductus arteriosus, Bacterial endocarditis, Pulmonic stenosis, Coarctation of aorta, Abnorm... ORPHA:3092
Rhabdoid Tumor
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Coarctation of aorta, Hypoplastic left heart, ... ORPHA:402075
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic ... OMIM:618845
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Thin eyebrow OMIM:618092
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus ORPHA:2516
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... OMIM:604169
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Pulmonic stenosis, Mitral valve prolapse, Persisten... OMIM:609008
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Pulm... ORPHA:210122
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Partial atrioventricular canal defect, ... ORPHA:1330
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hypertriglyceridemia, Hirsu... OMIM:612526
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Immunodeficiency 49
Eosinophilia, Hirsutism, Lymphopenia OMIM:617237
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Abdominal aortic aneurysm, Aortic root aneurysm, Coronary artery atheroscle... OMIM:617168
Netherton Syndrome
Brittle hair, Hypereosinophilia, Sparse eyebrow, Sparse scalp hair, Brittle scalp hair OMIM:256500
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Abnormal heart valve morphology, Pulmonic stenosis OMIM:126190
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta ORPHA:101028
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Atrial septal defect, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus ORPHA:2001
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Situs inversus totalis OMIM:617577
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Aplasia/Hypoplasia of the eyebrow, Sp... ORPHA:39041
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Thoracic aortic aneurysm, Atrial septal defect, Dextrotransposition of ... OMIM:619657
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect, Pulmonary artery stenosis OMIM:301030
Feingold Syndrome Type 1
Tricuspid atresia, Patent ductus arteriosus, Tricuspid stenosis, Multiple muscular ventricular se... ORPHA:391641
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Bic... ORPHA:284169
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic dissection, Atherosclerosis, C... ORPHA:231160
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta, Hypo... ORPHA:3426
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Griscelli Syndrome Type 2
Pancytopenia, Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Hemophagocytos... ORPHA:79477
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Pheochromocytoma--Islet Cell Tumor Syndrome
Axillary freckling, Cafe-au-lait spot, Hypercalcemia OMIM:171420
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Roifman Syndrome
Eosinophilia, Prominent eyelashes, Hepatosplenomegaly, Hyperconvex nail ORPHA:353298
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Holt-Oram Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Ventricular septal defect... ORPHA:392
Infantile Myofibromatosis
Abnormal hair morphology, Irregular hyperpigmentation, Hypercalcemia ORPHA:2591
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis, Hypo... OMIM:220210
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:600987
Oculocerebrodental Syndrome
Abnormality of the frontal hairline, Hypocalcemia, Hypercalcemia ORPHA:557003
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Craniotelencephalic Dysplasia
Hypotelorism, Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia, Arrhinencephaly OMIM:218670
Nanophthalmos 4
Microphthalmia OMIM:615972
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mastocytosis
Chronic leukemia, Mastocytosis, Abnormality of skin pigmentation, Hypercalcemia, Splenomegaly, Ac... ORPHA:98292
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Roifman Syndrome
Eosinophilia, Prominent eyelashes, Splenomegaly OMIM:616651
Gombo Syndrome
Microphthalmia OMIM:233270
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Incontinentia Pigmenti
Eosinophilia, Atrophic, patchy alopecia, Abnormality of skin pigmentation, Leukocytosis, Coarse h... OMIM:308300
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2902
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Patent ductus arteriosus, Ao... ORPHA:91387
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Splenomegaly, Low anterior hairline, Low posterior hairline OMIM:618440
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormal aortic valve morphology, Coarctation of ... ORPHA:1120
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Micrognathia OMIM:616570
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis, Truncus arteriosus, Aorti... OMIM:615415
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Patent ductus arteriosus, Atrial septal defect, Dysplastic tricuspi... OMIM:612863
Phace Association
Patent ductus arteriosus, Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal c... OMIM:606519
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Diabetic Embryopathy
Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular septal defect, Transpositio... ORPHA:1926
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus OMIM:228940
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Vitiligo, Hyperuricemia, Macrocytic... ORPHA:199299
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double outlet right ventricl... OMIM:179613
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Elevated circulating C-reactive pro... OMIM:617388
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Proptosis, Micrognathia OMIM:616171
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Tricuspid atresia, Atrial septal defect, Partial anomalous pulmonary venous ... OMIM:617478
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Coarse hair, Nail dysplasia, Chronic monilial nail infection, Nail dystrophy, Alopecia OMIM:158310
Hypophosphatasia, Infantile
Anemia, Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Nail dysplasia, Nail dystrophy, Anemia, Hyperpigmentation of the skin,... OMIM:175500
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Periventricular Nodular Heterotopia
Aortic aneurysm, Abnormal heart valve morphology, Patent ductus arteriosus ORPHA:98892
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia OMIM:611638
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T cells, Lymphopenia ORPHA:169160
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Scimitar anomaly, Dextrocard... OMIM:608978
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Alagille Syndrome 2
Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Pulmonic stenosis OMIM:610205
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Dysplastic aortic valve, Atrial septal defect, Ventricular septal defec... OMIM:601808
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Anemia, Calcinosis, Hypophosphatemia OMIM:239200
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Muscular ventricular septal defect ORPHA:66634
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Dilated left subclavian artery, Aortic... ORPHA:449400
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect, Aortic root aneurysm OMIM:301039
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonic stenosis OMIM:619433
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Noonan Syndrome 8
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, V... OMIM:615355
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Coarctation of aorta, Bicuspid aortic valve, ... ORPHA:508498
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Bicuspid... OMIM:619149
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial tortuosity, Coronary artery calcification, Arterial calcification, Abnormal vascular mor... ORPHA:289601
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e... OMIM:619632
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defec... ORPHA:2041
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Atrial septal defect, Situs in... ORPHA:3097
Boudin-Mortier Syndrome
Mitral valve prolapse, Aortic root aneurysm OMIM:619543
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Coarctati... OMIM:601186
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis OMIM:616201
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
2P21 Microdeletion Syndrome
Hypocalcemia, Long eyelashes ORPHA:163693
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Frontal encephalocele, Microphthalmia, Hydrocephalus, Arrhinencephaly ORPHA:1528
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Tangier Disease
Accelerated atherosclerosis, Left ventricular hypertrophy, Coronary artery stenosis, Carotid arte... ORPHA:31150
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Pulmonary artery atresia, Ventricular septal def... ORPHA:401935
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Mitral valve prolapse, Pulmonic stenosis, Abnormal heart valve morphology ORPHA:228410
Allergic Bronchopulmonary Aspergillosis
Abnormal fingernail morphology, Abnormal eosinophil morphology ORPHA:1164
Monosomy 18Q
Pulmonary valve defects, Patent ductus arteriosus, Aortic aneurysm, Secundum atrial septal defect... ORPHA:1600
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia ORPHA:251004
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy... ORPHA:33445
Autosomal Dominant Hyper-Ige Syndrome
Abnormal hair morphology, Eosinophilia, Dystrophic fingernails, Paronychia ORPHA:2314
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia, Alopecia, Recurr... ORPHA:47
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absen... ORPHA:911
Griscelli Syndrome Type 1
Premature graying of hair, Hyperlipidemia, Partial albinism, White hair, Iris hypopigmentation ORPHA:79476
Calcification Of Joints And Arteries
Iliac arterial calcification, Femoral arterial calcification, Coronary artery calcification, Tibi... OMIM:211800
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, V... OMIM:612561
Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Abnormal cardiomyocyte morphology, Coronary artery atherosclerosis, Car... ORPHA:565612
Alg12-Cdg
Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale, Patent ductu... ORPHA:79324
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Bicuspid aortic valve, Arterial tortuosity, Ascending tu... OMIM:614816
Hartsfield Syndrome
Microphthalmia, Lobar holoprosencephaly, Hypertelorism, Encephalocele ORPHA:2117
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Bartsocas-Papas Syndrome 2
Microphthalmia, Wide anterior fontanel, Micrognathia OMIM:619339
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Bone m... ORPHA:443811
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Retrognathia ORPHA:2528
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, C... OMIM:601005
Mmep Syndrome
Microphthalmia, Mandibular prognathia ORPHA:3434
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia, Hydrocephalus ORPHA:324416
Loeys-Dietz Syndrome 1
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Pulmonary artery aneurysm, ... OMIM:609192
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Transposition of the grea... ORPHA:1727
Colchicine Poisoning
Hypokalemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Mcdonough Syndrome
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:248950
Noonan Syndrome 10
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, C... OMIM:616564
Faciothoracogenital Syndrome
Microphthalmia, Micrognathia OMIM:227320
Noonan Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, C... OMIM:605275
Cap Myopathy
Mitral valve prolapse, Aortic root aneurysm ORPHA:171881
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta, Ven... OMIM:600460
Incontinentia Pigmenti
Eosinophilia, Abnormality of the nail, Abnormality of skin pigmentation, Hypopigmented skin patch... ORPHA:464
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:85138
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Coronary artery atherosclerosis, Aortic atherosclerotic lesion, Abnormality... ORPHA:363618
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Coarctation of aorta, Abnormal cardiac septum morphology OMIM:301022
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrioventricular canal defect, Hypertrophic cardio... ORPHA:251071
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Micrognathia, Retrognathia OMIM:615524
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Hypoplasia of the maxilla, Hypertelorism, Anterior basa... OMIM:136760
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Griscelli Syndrome
Premature graying of hair, Abnormal eyebrow morphology, Leukopenia, Bone marrow hypocellularity, ... ORPHA:381
Hydrolethalus
Deeply set eye, Anophthalmia, Anencephaly, Micrognathia, Microphthalmia, Retrognathia, Hydrocepha... ORPHA:2189
Cystic Echinococcosis
Eosinophilia, Hyperbilirubinemia, Peritoneal abscess, Splenic cyst, Abscess ORPHA:400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Johnson Neuroectodermal Syndrome
Right aortic arch, Ventricular septal defect, Patent ductus arteriosus OMIM:147770
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal number of dense granules, Hypopigmentation of hair, Albinism OMIM:614072
46,Xx Sex Reversal 5
Hypoplastic left heart, Ventricular septal defect, Secundum atrial septal defect OMIM:618901
2Q24 Microdeletion Syndrome
Microphthalmia, Hypertelorism ORPHA:1617
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Nanophthalmos
Microphthalmia ORPHA:35612
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Loeys-Dietz Syndrome 6
Abdominal aortic aneurysm, Thoracic aortic aneurysm, Carotid artery dissection, Dilatation of the... OMIM:619656
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Coarctation of aorta OMIM:614857
Aortic Arch Interruption
Aortic valve atresia, Aortopulmonary window, Patent ductus arteriosus, Double outlet right ventri... ORPHA:2299
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:610168
Methionine Malabsorption Syndrome
White hair, Blue irides, Positive ferric chloride test OMIM:250900
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Otosclerosis 8
Otosclerosis OMIM:612096
Otosclerosis 3
Otosclerosis OMIM:608244
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia, Encephalocele OMIM:613885
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Distal Monosomy 19P13.3
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Ritscher-Schinzel Syndrome 3
Microphthalmia, Wide anterior fontanel, Hypertelorism, Micrognathia OMIM:619135
Emanuel Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Tru... OMIM:609029
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus OMIM:616589
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, ... OMIM:121050
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia, Micrognathia OMIM:221950
Transaldolase Deficiency
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta, Ventr... OMIM:606003
Chromosome 1Q41-Q42 Deletion Syndrome
Deeply set eye, Hypotelorism, Holoprosencephaly, Microphthalmia OMIM:612530
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Red hair OMIM:609734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Scleroderma
Hypereosinophilia, Elevated circulating creatine kinase concentration, Alopecia, Irregular hyperp... ORPHA:801
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Hyperproteinemia ORPHA:29073
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Total anomalous pulmonary venous return, Patent ductus arteriosus, Double... OMIM:270100
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemia, Hypoalbumin... ORPHA:88673
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Maternal Phenylketonuria
Tetralogy of Fallot, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left heart,... ORPHA:2209
Immunodeficiency 23
Eosinophilia, Abscess, Neutropenia, Hemolytic anemia, Lymphopenia OMIM:615816
Congenital Aortic Valve Stenosis
Aortic valve atresia, Thoracic aortic aneurysm, Endocardial fibroelastosis, Dysplastic aortic val... ORPHA:3093
Nasodigitoacoustic syndrome
Pulmonic stenosis OMIM:255980
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Cerebrooculofacioskeletal Syndrome 1
Deeply set eye, Microphthalmia, Micrognathia OMIM:214150
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Patent foramen ovale, Coarctation of aorta, Hypoplastic left heart, Ventricu... OMIM:618748
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral v... ORPHA:7
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Wide anterior fontanel, Hypertelorism, Micrognathia ORPHA:163649
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Coronary artery atherosclerosi... ORPHA:435638
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Patent ductus arteriosus, Prominent superficial veins, Atrial se... ORPHA:363705
Pheochromocytoma
Cafe-au-lait spot, Hypercalcemia OMIM:171300
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Double outlet right ventricle, Coarctation of aorta, Ventricular septal def... ORPHA:371428
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta OMIM:617159
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Coarct... ORPHA:980
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Ventricular septal defect OMIM:219730
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Synophrys ORPHA:476126
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Orbital encephalocele OMIM:164180
Pierpont Syndrome
Deeply set eye, Hypertelorism, Microphthalmia ORPHA:487825
Warburg Micro Syndrome 1