Gene Summary

Name:
transmembrane protein 100
Synonyms:
1810057C19Rik

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
pale yolk sac Tmem100tm1e.1(KOMP)Wtsi HOM E9.5 0.00
edema Tmem100tm1e.1(KOMP)Wtsi HOM E9.5 0.00
abnormal lung morphology Tmem100tm1e.1(KOMP)Wtsi HET Early adult 0.00
abnormal embryo size Tmem100tm1e.1(KOMP)Wtsi HET E9.5 0.00
abnormal embryo size Tmem100tm1e.1(KOMP)Wtsi HOM E9.5 0.00
increased lymphocyte cell number Tmem100tm1e.1(KOMP)Wtsi HET Early adult 6.29×10-06
increased leukocyte cell number Tmem100tm1e.1(KOMP)Wtsi HET Early adult 1.20×10-05
decreased circulating calcium level Tmem100tm1e.1(KOMP)Wtsi HET Early adult 7.39×10-06
preweaning lethality, complete penetrance Tmem100tm1e.1(KOMP)Wtsi HOM   Early adult 0.00
abnormal pericardium morphology Tmem100tm1e.1(KOMP)Wtsi HOM E9.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Bone  Section images heterozygote 0.0% (0 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 0.0% (0 of 2)
Tongue  Section images heterozygote 0.0% (0 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Gross Pathology and Tissue Collection

Images

8 Images

Adult LacZ

LacZ Images Section

22 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Hind Leg and Hip

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Eye Morphology

Images Slit Lamp

1 Images

Gross Morphology Embryo E9.5

Images

12 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Human diseases caused by Tmem100 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 Tmem100 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa... ORPHA:60041
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nephrosialidosis
Pericardial effusion, Bone-marrow foam cells, Ascites OMIM:256150
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Aorto-Ventricular Tunnel
Congestive heart failure, Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hype... ORPHA:3400
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal... ORPHA:860
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, Abnormality of the musculature of the limbs, Arteriovenous malformation... ORPHA:137667
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Ethanolaminosis
Cardiomegaly OMIM:227150
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Intrauterine growth retardation, Overriding aorta, Arteriovenous malformation, Abnormal aortic ar... ORPHA:1110
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio... OMIM:614702
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Arrhythmia, Abnormal cere... ORPHA:363705
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Chylopericardium, Pleural effusion, Asci... ORPHA:2414
Distal Duplication 14Q
Short stature, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ... OMIM:132900
Cantu Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Lymphedema, Pericardial effusion, Congenital hyp... OMIM:239850
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Alpha-Heavy Chain Disease
Hypocalcemia, Anemia, Splenomegaly ORPHA:100025
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Encephalocele, Pulmonary artery atresia,... ORPHA:974
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Familial Multiple Nevi Flammei
Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage, Arrhythmia, Edema, Pul... ORPHA:624
Hydrops Fetalis
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericar... ORPHA:1041
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Parkes Weber Syndrome
Spinal arteriovenous malformation, Arteriovenous malformation, Venous malformation, Vascular dila... ORPHA:90307
Capillary Malformation-Arteriovenous Malformation 1
Arteriovenous fistula, Arteriovenous malformation OMIM:608354
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Familial Atrial Myxoma
Congestive heart failure, Vascular dilatation, Bacterial endocarditis, Cardiac myxoma, Ascites, T... ORPHA:615
Arterial Dissection-Lentiginosis Syndrome
Arteriovenous malformation, Arterial dissection ORPHA:1682
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Wyburn-Mason Syndrome
Vascular dilatation, Arteriovenous malformation, Peripheral arteriovenous fistula, Epistaxis, Sub... ORPHA:53719
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholesterolemia OMIM:612526
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Non-Involuting Congenital Hemangioma
Congestive heart failure, Peripheral arteriovenous fistula, Prominent superficial veins, Telangie... ORPHA:141179
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Recurrent respiratory infections OMIM:618618
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Vein Of Galen Aneurysmal Malformation
Peripheral arteriovenous fistula, Vascular dilatation, Abnormal cerebral vascular morphology ORPHA:1053
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Mo... OMIM:614470
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wav... OMIM:261740
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Peripheral arteriovenous fistula, Prominent superficial veins, Telangie... ORPHA:141184
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Cerebral Arteriovenous Malformation
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:46724
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation ORPHA:53721
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, Aortic aneurysm, Multiple muscular ventricular septal defects, S... OMIM:620070
Mucopolysaccharidosis Type 7
Hydrops fetalis, Arteriovenous malformation, Lymphedema, Ascites, Splenomegaly, Umbilical hernia ORPHA:584
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Adamantinoma
Hypercalcemia ORPHA:55881
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Primary Intestinal Lymphangiectasia
Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Pleural effu... ORPHA:90362
Pulmonary Arteriovenous Malformation
Ischemic stroke, Myocardial infarction, Bacterial endocarditis, Pleural empyema, Transient ischem... ORPHA:2038
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Per... OMIM:618775
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure, Arteriovenous malformation, Venous insufficiency ORPHA:137608
Blue Rubber Bleb Nevus
Arteriovenous malformation, Intestinal bleeding ORPHA:1059
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pu... OMIM:620294
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Abnormal lung morphology, Recurrent pneumonia, Thrombocytopenia, Recurrent ... ORPHA:47
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Renal artery stenosis, Short stature, Generalized arteria... OMIM:208000
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele, Enlarged kidney OMIM:613885
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauterine growth retardation, Tran... ORPHA:3384
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Iron deficiency anemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Immunodeficiency 112
Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea... OMIM:620449
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Aortic aneurysm, Angina pectoris, Lymphedema, Short stature, Skeletal... ORPHA:109
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... ORPHA:91387
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hepatomegaly, Abnormal heart valve morphology, Pleural effusion, Ascites... ORPHA:36412
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Melorheostosis
Peripheral arteriovenous fistula, Lymphedema, Skeletal muscle atrophy ORPHA:2485
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
Arteriovenous fistula OMIM:600419
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Partial anomalous pulmonary venous ... OMIM:618280
Scimitar Syndrome
Mitral atresia, Left-to-right shunt, Hypoplasia of the diaphragm, Abnormal heart morphology, Inte... ORPHA:185
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Ascites, Telangiectasia of the skin, Arterial stenosis, Patent ductus... ORPHA:1556
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Abnormal aortic morphology, Cardiomyopathy, Arrhythmia ORPHA:3222
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Neuraminidase Deficiency
Hydrops fetalis, Hepatomegaly, Bone-marrow foam cells, Cardiomyopathy, Ascites, Short stature, Sk... OMIM:256550
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa... OMIM:620135
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arteriovenous malformation, Cerebral ischemia, Arrhythmia ORPHA:60040
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Fanconi Anemia
Abnormal carotid artery morphology, Abnormal aortic valve morphology, Arteriovenous malformation,... ORPHA:84
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Recurrent pharyngitis, Elevated circulating C-reactive protein concentration, Pa... OMIM:308240
Phakomatosis Pigmentovascularis
Arteriovenous malformation ORPHA:2875
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep... OMIM:618652
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Sh... OMIM:252011
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Transaldolase Deficiency
Hydrops fetalis, Coarctation of aorta, Hepatosplenomegaly, Edema, Atrial septal defect, Biventric... ORPHA:101028
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal aortic morphology, Short stature, Tetralogy of Fallot, ... ORPHA:1166
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Gastrointestinal hemorrhage, Arteriovenous malformation, Nasal mucosa tela... ORPHA:774
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Hemothorax, Pleural effusion, Abnormal pulmo... ORPHA:199241
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Hennekam Syndrome
Hydrops fetalis, Arteriovenous malformation, Chylothorax, Lymphedema, Ascites, Camptodactyly of f... ORPHA:2136
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Intrauterine growth retardation, Abnormal aortic morphology, Truncus arteriosus, Ventricular sept... ORPHA:2516
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Spina bifida occulta, Pleural lymphang... OMIM:235510
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Abnormal ascending ... ORPHA:2299
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, Thora... OMIM:616166
Pelizaeus-Merzbacher Disease
Short stature, Arteriovenous malformation ORPHA:702
Foix-Alajouanine Syndrome
Distal lower limb muscle weakness, Cervical myelopathy, Venous malformation, Arteriovenous fistul... ORPHA:79093
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Hepatomegaly, Ascites, Pericardial effusion, Splenomegaly, Atrial septal defect OMIM:608776
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Prolonged QT interval, Patent foramen ovale, Pericardial effu... ORPHA:26793
Cirrhotic Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Peripheral edema, Elevated pulmonary artery pressure, P... ORPHA:57777
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Abnormal aortic morphology,... ORPHA:3405
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Fibromuscular Dysplasia, Arterial
Stroke, Aortic dissection, Intermittent claudication, Renovascular hypertension, Arterial fibromu... OMIM:135580
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Abnormal aortic morphology, Anomal... ORPHA:392
Mulibrey Nanism
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Ascites, Pericardial constriction, Short... OMIM:253250
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Anemia, Hypokalemia OMIM:175500
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal aortic valve morphology,... ORPHA:1120
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Abnormal cardiac ventricular function, Midsystolic murmur, Right ventricular hypert... ORPHA:1677
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Congenital Enterovirus Infection
Myocarditis, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Pleural effusion, Hypotension, Peri... ORPHA:292
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Anemia OMIM:244460
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Increased blood pressure, Hypertension, Ascites, Portal hypertension, Pericardial e... OMIM:619487
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Aortic aneurysm, Abnormal ST segment, Myocardial sarc... OMIM:612422
Methimazole Embryofetopathy
Polyhydramnios, Abnormal aortic morphology, Coarctation of aorta, Intrauterine growth retardation... ORPHA:1923
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Recurrent lower respiratory tract infections, Decre... ORPHA:169154
Hypophosphatasia
Emphysema, Hypercalcemia, Anemia ORPHA:436
Aortic Valve Disease 2
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t... OMIM:614823
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Pneumonia, Iron deficiency anemia, Reduced proportion of CD4-negativ... ORPHA:37042
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, As... ORPHA:94093
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c... ORPHA:75565
Q Fever
Myocarditis, Abnormal vascular morphology, Abnormal left ventricular function, Hepatomegaly, Abno... ORPHA:781
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Intellectual Developmental Disorder, Autosomal Dominant 21
Short stature, Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc... OMIM:618300
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri... ORPHA:251071
Currarino Syndrome
Arteriovenous malformation ORPHA:1552
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Leukocytosis, Recurrent sinusitis, Recurrent pneumonia, Neutro... OMIM:619281
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Short stature, Coarctation of aorta, Splenomegaly, Ve... OMIM:620210
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Hypoplastic left heart ORPHA:2001
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Leukocyt... OMIM:618042
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effus... ORPHA:846
Kaposiform Lymphangiomatosis
Enlarged kidney, Epidural hemorrhage, Abnormal lymphatic vessel morphology, Pleural effusion, Per... ORPHA:464329
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly OMIM:259700
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c... OMIM:619051
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Ascites, Intrauterine growth retardation ORPHA:858
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... ORPHA:36234
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Leukocytosis, Splenomegaly, Hypophosphatemia, Hypochromic an... ORPHA:289157
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly, Cardiomegaly OMIM:269920
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, High-output congestive... OMIM:610655
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Hepatomegaly, Arteriovenous malformation, Hypertension, Cerebral isc... ORPHA:394
Double Outlet Right Ventricle
Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Short stature, Coar... ORPHA:3426
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Ventricular hypertrophy, Hypertension, Ascites, Abnormal retinal arte... ORPHA:51608
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Pericardial effusion, Mitral valve prolapse, Umbi... ORPHA:536532
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:284169
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Pleural effusion, Hyponatremia, Hypomagnesemia, Recurrent upp... OMIM:618183
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Reduced muscle carnitine level, Cardiomyopathy, Dehydrati... OMIM:212140
Superficial Siderosis
Arteriovenous malformation, Abnormal vertebral artery morphology, Internal hemorrhage, Subarachno... ORPHA:247245
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Osteopetrosis, Autosomal Recessive 5
Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos... OMIM:259720
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Acute Interstitial Pneumonia
Peripheral edema, Pericardial effusion, Hypertension, Pleural effusion ORPHA:79126
Gaucher Disease Type 3
Delayed puberty, Hydrops fetalis, Hepatomegaly, Abnormal heart valve morphology, Mitral valve cal... ORPHA:77261
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Transaldolase Deficiency
Hepatomegaly, Patent foramen ovale, Coarctation of aorta, Hepatosplenomegaly, Splenomegaly, Paten... OMIM:606003
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Myhre Syndrome
Skeletal muscle hypertrophy, Hypertension, Birth length less than 3rd percentile, Camptodactyly, ... OMIM:139210
Pediatric Systemic Lupus Erythematosus
Myositis, Pleural effusion, Ascites, Pericardial effusion, Raynaud phenomenon, Edema ORPHA:93552
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Hy... OMIM:300280
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Hepatic arteriovenous malformation, Arteriovenous malformation, Spon... ORPHA:2929
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Cardiomyopathy, Pericardial effusion, Pericarditis, Stroke-like episode, Nonimmune ... OMIM:212065
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... OMIM:187300
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Aplasia/Hyp... ORPHA:1926
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Lymphoproliferative Syndrome 1
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly OMIM:613011
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Pleuritis, Hypocalcemia, Pleural empyema, Leukocytosis, Hyponatremia, Respiratory t... ORPHA:544482
Meacham Syndrome
Enlarged kidney, Bicuspid aortic valve, Transposition of the great arteries, Common atrium, Diaph... OMIM:608978
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilat... OMIM:306955
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ... ORPHA:3093
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Alkuraya-Kucinskas Syndrome
Pleural effusion, Camptodactyly, Pericardial effusion, Edema, Arthrogryposis multiplex congenita OMIM:617822
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Poems Syndrome
Hepatomegaly, Pleural effusion, Ascites, Pulmonary arterial hypertension, Visceromegaly, Pericard... ORPHA:2905
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Dilatation of the cerebral artery, Blepharochalasis, Orthostatic hypote... ORPHA:287
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Aicardi-Goutieres Syndrome 7
Hematemesis, Hepatomegaly, Limb hypertonia, Vasculitis, Hypertension, Hypertrophic cardiomyopathy... OMIM:615846
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Cholera
Hypokalemia, Hypocalcemia, Aspiration pneumonia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Hemochromatosis, Type 1
Congestive heart failure, Hepatomegaly, Pleural effusion, Cardiomyopathy, Ascites, Splenomegaly, ... OMIM:235200
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Pneumonia, Hypoalbuminemia, Thrombocytosi... OMIM:209950
Familial Bicuspid Aortic Valve
Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Hypertension, Aortic ar... ORPHA:402075
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Myelomeningocele, Camptodactyly of finger, Coa... ORPHA:2876
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Isotretinoin-Like Syndrome
Postnatal growth retardation, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphol... ORPHA:2306
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Alg9-Cdg
Atrial septal defect, Enlarged kidney, Hydrops fetalis, Rhizomelia, Torticollis, Hepatomegaly, Ab... ORPHA:79328
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Hypoplastic left ... OMIM:601186
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly, Pulmonary lymphangiectasia OMIM:235255
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Postnatal growth retardation, Camptodactyly, Short stature, Peri... ORPHA:1272
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Recurrent lower respiratory tract infections, Hypokalemia, Hypocalcemia, Hyponatremia... OMIM:617913
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Recurrent pneumonia, Recurrent upper respiratory tract infections OMIM:607143
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia, Anemia OMIM:127000
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Hypertension, Precocious atherosclerosis, Peripheral arterial stenosi... ORPHA:391665
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Recurrent respiratory infections ORPHA:2323
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Growth delay, Coarctation of aorta, Patent ductus arteriosus, At... OMIM:614857
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Cardiac arrest, Intrauterine growth retardation, Cerebral edema, Le... OMIM:617713
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Hepatomegaly, Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardi... OMIM:614921
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta, Polyhydramnios, Dehydration, Hypertension OMIM:616069
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous... ORPHA:286
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Short stature OMIM:616559
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly, Pulmonary lymphangiectasia ORPHA:1655
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Torticollis, Increased variability in muscle fiber diameter, Cardiomegaly, Overr... OMIM:617022
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Umbilical hernia, Patent ductus art... ORPHA:1517
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Thrombocytosis, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Ascites, Epistaxis, Splenomegaly, Diffuse alveolar hemorr... ORPHA:99827
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Vascular dilatation, Hypertension, Pulmonary arterial hypertension,... OMIM:613320
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Elevated circulating C-reactive protein concentration, Acut... ORPHA:36238
Noonan Syndrome 10
Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Increased nuchal translu... OMIM:616564
Histiocytosis-Lymphadenopathy Plus Syndrome
Left superior vena cava draining to coronary sinus, Hepatomegaly, Flexion contracture of toe, Joi... OMIM:602782
Glomuvenous Malformation
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation ORPHA:83454
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Pulmonary edema, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu... OMIM:620609
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Flexion ... OMIM:616897
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Scapular winging, Tendon rupture, Fiber type grouping, Descend... OMIM:620080
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly OMIM:266500
Paternal Uniparental Disomy Of Chromosome 6
Postnatal growth retardation, Hepatomegaly, Patent ductus arteriosus, Dehydration, Umbilical hern... ORPHA:96191
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu... OMIM:270100
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia ORPHA:98827
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Dilatation of the cerebral artery, Arterial tortuosity, Vertebra... OMIM:619656
Gaucher Disease, Type Iiic
Calcification of the aorta, Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomega... OMIM:231005
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Glycogen Storage Disease Ii
Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis devia... OMIM:232300
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, T lymphocytopenia, Recurrent streptococcus pneumoniae infe... ORPHA:83471
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Aortic root aneurysm, Ascending tubular aorta aneurysm, Ascending aortic di... OMIM:619825
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Nonimmune hydrops fetalis, Intrauterine growth retardation OMIM:618838
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Increased nuchal translucency, Coarctation of aorta, Abnormal heart morphol... OMIM:618494
Klippel-Trenaunay-Weber Syndrome
Arteriovenous fistula, Lymphedema OMIM:149000
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Aortic root aneurysm, Ven... OMIM:208050
Gitelman Syndrome
Delayed puberty, Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segmen... ORPHA:358
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Telangiectasia, Stroke, Aortic dissection, E... OMIM:175050
Meacham Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven... ORPHA:3097
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi... OMIM:300908
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Recurre... ORPHA:911
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the... OMIM:265380
Proteus Syndrome
Enlarged kidney, Arteriovenous malformation, Sirenomelia, Venous malformation, Lymphedema, Enlarg... ORPHA:744
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Skeletal muscle atrophy, Arrhythmia, Cardiomegaly, Myopathy ORPHA:42
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Congenital Tracheomalacia
Patent ductus arteriosus, Right aortic arch, Pulmonary arterial hypertension, Double aortic arch,... ORPHA:95430
Hypophosphatasia, Infantile
Anemia, Recurrent respiratory infections, Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Pearson Syndrome
Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, Hypoplastic sp... ORPHA:699
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia ORPHA:86843
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Calf muscle ... ORPHA:268
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardi... ORPHA:158687
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Short stature, Coarctation of aorta, Secundum atrial se... OMIM:600987
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79444
Mosaic Trisomy 16
Large placenta, Single coronary artery origin, Coarctation of aorta, Abnormal heart morphology, P... ORPHA:1708
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Dilatation of the cerebral artery, Hepatomegaly,... ORPHA:365
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Encephalocele, Meningocele, Abnormal aor... ORPHA:991
Velocardiofacial Syndrome
Hypocalcemia, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia OMIM:192430
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Lymphedema ORPHA:3137
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Vascular dilatation, Aortic aneurysm, Elbow flexion contracture, EMG: m... ORPHA:1900
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Infantile Myofibromatosis
Hypercalcemia, Neoplasm of the lung ORPHA:2591
Fanconi Anemia, Complementation Group B
Growth delay, Coarctation of aorta, Patent ductus arteriosus, Intrauterine growth retardation, Ve... OMIM:300514
Ethylene Glycol Poisoning
Hypocalcemia, Pulmonary edema, Hyperkalemia ORPHA:31826
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Exercise-i... OMIM:201475
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage ORPHA:99931
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema, Anemia, Pancytopenia, Hypocalcemia, Unconj... OMIM:613658
Arterial Tortuosity Syndrome
Myocarditis, Abnormal carotid artery morphology, Congestive heart failure, Vascular dilatation, A... ORPHA:3342
Acrocardiofacial Syndrome
Truncus arteriosus, Camptodactyly of finger, Coarctation of aorta, Mitral stenosis, Tetralogy of ... ORPHA:2008
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive... ORPHA:308552
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Sifrim-Hitz-Weiss Syndrome
Short stature, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal... OMIM:617159
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Coarctation of aorta, Secundum atrial septal defect, Skeletal muscle atrophy OMIM:614300
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hypocalcemia, Pulmonary artery stenosis, Splenomegaly, Hypophosphatemia, Recurrent respir... ORPHA:667
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Cartilage-Hair Hypoplasia
Hypocalcemia, Anemia, Neutropenia ORPHA:175
Lymphangioleiomyomatosis