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Gene: Wbp1l MGI:107577

Gene Summary

Name:

WW domain binding protein 1 like

Synonyms:

D19Wsu162e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
prolonged ST segment	Wbp1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	1.26×10^-06
decreased circulating calcium level	Wbp1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	6.07×10^-09
abnormal eye anterior chamber depth	Wbp1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	1.09×10^-08
decreased heart rate	Wbp1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	2.42×10^-05
abnormal skin coloration	Wbp1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	7.03×10^-05
increased startle reflex	Wbp1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	2.53×10^-20
decreased circulating serum albumin level	Wbp1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	2.09×10^-07
decreased prepulse inhibition	Wbp1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	4.70×10^-22
decreased circulating total protein level	Wbp1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	3.08×10^-05
decreased circulating alkaline phosphatase level	Wbp1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	1.45×10^-17
hyperactivity	Wbp1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	5.58×10^-06
prolonged RR interval	Wbp1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	3.80×10^-06

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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
Adrenal gland	Wholemount images	heterozygote	0.0% (0 of 2)
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Bone	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Brown adipose tissue	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Gall bladder	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Liver	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Mammary gland	Wholemount images	heterozygote	50% (1 of 2)
Mesenteric lymph node	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Pancreas	Wholemount images	heterozygote	100% (2 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Peyer's patch	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	50% (1 of 2)
Prostate gland	Wholemount images	heterozygote	50% (1 of 2)
Skeletal muscle	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Spleen	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thymus	Wholemount images	heterozygote	100% (2 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Trigeminal V nerve	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vas deferens	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
White adipose tissue	Wholemount images	heterozygote	100% (2 of 2)
Cecum	N/A	heterozygote	100% (1 of 1)
Eye	N/A	heterozygote	Not available
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	100% (2 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	100% (2 of 2)

No Embryo expression data was found for this gene.

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%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	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%
mesenteric lymph node
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	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%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vas deferens	Unavailable
vascular system	0.0%
white adipose tissue	0.0%

XRay Images Whole Body Dorso Ventral

10 Images

View images

Immunophenotyping

Panel B FCS file(s)

3 Images

View images

Human diseases caused by Wbp1l 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.

Human diseases associated with Wbp1l (0 diseases)
Human diseases predicted to be associated with Wbp1l (651 diseases)

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

The table below shows human diseases predicted to be associated to Wbp1l by phenotypic similarity.

Disease	Matching phenotypes	Source
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:300376
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ...	ORPHA:263297
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Mildly elevated creatine kinase, Dysphagia	OMIM:620265
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder	OMIM:617182
Autoimmune Hypoparathyroidism	Prolonged QT interval, Cataract, Abnormal left ventricular function, Hypocalcemic seizures, Conju...	ORPHA:36913
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased...	ORPHA:26793
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Pseudohypoparathyroidism Type 2	Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngea...	ORPHA:94090
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:309930
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Primary Membranoproliferative Glomerulonephritis	Hypertension, Hypoalbuminemia, Myocardial infarction	ORPHA:54370
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem...	OMIM:620152
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Ménétrier Disease	Gastrointestinal hemorrhage, Hypoproteinemia, Hypoalbuminemia, Anorexia	ORPHA:2494
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Familial Isolated Hypoparathyroidism	Arrhythmia, Cataract, Hypocalcemia	ORPHA:2238
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Cataract, Hypoproteinemia, Aggressive behavior	OMIM:608093
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Bradycardia, Dystonia, Pulmonary arterial hypertension, Incre...	OMIM:616299
Recessive Mitochondrial Ataxia Syndrome	Increased serum pyruvate, ST segment elevation, Dysphagia	ORPHA:94125
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Fibronectin Glomerulopathy	Hypertension, Hypoalbuminemia, Cerebral hemorrhage	ORPHA:84090
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c...	OMIM:615184
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Cataract, Reduced systolic function, Hypoalbuminemia	OMIM:618805
Nathalie Syndrome	Abnormal EKG, Cataract	OMIM:255990
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia...	OMIM:601005
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Focal Segmental Glomerulosclerosis 1	Hypertension, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem...	ORPHA:86816
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia	OMIM:609924
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia	ORPHA:99828
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ...	OMIM:150550
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Opisthotonus, Hypertensi...	ORPHA:3299
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Congestive heart failure, Decreased plasma free carnitine, Bradycardia	OMIM:619048
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Hypoproteinemia	OMIM:260450
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio...	OMIM:618815
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atri...	OMIM:212138
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circul...	ORPHA:103910
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia, Dystonia	OMIM:614654
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Anorexia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperpigmentation of...	OMIM:175500
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia, Budd-Chiari syndrome, Pulmonary embolism	OMIM:226300
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Axillary freckling, Ep...	OMIM:171420
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Autosomal Dominant Hypocalcemia	Writer's cramp, Congestive heart failure, Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hy...	ORPHA:428
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho...	ORPHA:99845
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Muscular Dystrophy, Progressive Pectorodorsal	Arrhythmia, Elevated circulating creatine kinase concentration	OMIM:310095
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia, Dysphagia	OMIM:616276
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Generalized dystonia, Bradycardia, Cardiac arrest	OMIM:618235
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Oculogyric crisis,...	ORPHA:94093
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Restlessness, Ca...	ORPHA:466677
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Dystonia	OMIM:616277
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Combined Oxidative Phosphorylation Deficiency 10	Hyperammonemia, Bradycardia, Dystonia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:614702
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter	OMIM:618347
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Agammaglobulinemia 6, Autosomal Recessive	B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Absent P wave, Sudden cardiac death, First degree atrioventricular block, Elevated circulating cr...	OMIM:310300
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat...	OMIM:261740
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Colchicine Poisoning	Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal blood ion concentratio...	ORPHA:31824
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Ectopia lentis	OMIM:238700
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole...	OMIM:208920
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hyp...	ORPHA:94089
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Alg1-Cdg	Cardiomyopathy, Hypoalbuminemia	ORPHA:79327
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ...	ORPHA:542306
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Cln3 Disease	Cataract, Aggressive behavior, T-wave inversion, Bradycardia, Dysphagia	ORPHA:228346
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Tremor, Limb dystonia, Hypertrophic cardiomyopathy	OMIM:620270
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Bradycardia	ORPHA:95717
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst...	OMIM:616267
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa...	OMIM:615895
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compul...	OMIM:261600
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Palpitations, Positive regi...	ORPHA:94080
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Dystonia, Bradycardia, Atrioventricular block, Intention tremor	OMIM:614407
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Jaw cla...	ORPHA:85443
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	OMIM:242150
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Eosinophilic Gastroenteritis	Hematochezia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Dysphagia	ORPHA:2070
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Second degree atrioventricular block, Hypoalbuminemia, Pulmonary arterial hypertension	OMIM:617021
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Hy...	ORPHA:247353
Mpi-Cdg	Gastrointestinal hemorrhage, Hypoalbuminemia, Portal hypertension	ORPHA:79319
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia, Opisthotonus	OMIM:619814
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Pheochromocytoma	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Developmental cataract...	OMIM:171300
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Bradycardia	ORPHA:95716
Chédiak-Higashi Syndrome	Hyponatremia, Hypopigmentation of the skin, Hypertriglyceridemia, Epistaxis, Tremor, Increased ci...	ORPHA:167
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperpho...	ORPHA:466650
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Glutamine Deficiency, Congenital	Hypoglutaminemia, Bradycardia, Hyperammonemia	OMIM:610015
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cataract, Cardiomyopathy, Bradycardia, Dysphagia, Arrhythmia	OMIM:609286
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Lymphoproliferative Syndrome, X-Linked, 1	Vasculitis, Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Immunodeficiency 27A	Hypoalbuminemia, Anorexia	OMIM:209950
Gitelman Syndrome	Prolonged QT interval, Polydipsia, Salt craving, Raynaud phenomenon, Hypomagnesemia, Hypermagnese...	ORPHA:358
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Retinal hemorrhage, Hy...	OMIM:609049
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Cholera	Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo...	ORPHA:173
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hyp...	ORPHA:79444
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia, Developmental cataract	ORPHA:557003
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:616730
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells	OMIM:613493
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Cataract, Hypocalcemia, Hyperphosphatemia	OMIM:612462
Hypotonia-Cystinuria Syndrome	Polyphagia, Hypocalcemia	OMIM:606407
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka...	ORPHA:31826
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula...	ORPHA:567548
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Elevated circulating creatine kinase concentration, Myocarditis, Elevated cir...	ORPHA:36234
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior	OMIM:239500
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Palpitations, Abnormal circulating albumin concentrat...	ORPHA:86839
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Corneal erosion, Dilated cardiomyopathy, Dysphagia, Decreased serum zinc, H...	ORPHA:89842
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia	OMIM:605899
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Adamantinoma	Hypercalcemia	ORPHA:55881
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Hypocalc...	ORPHA:746
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpitations, Hyper...	ORPHA:276556
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Encephalopathy, Progressive, With Or Without Lipodystrophy	Tremor, Hyperactivity, Hypertriglyceridemia, Dystonia	OMIM:615924
Leishmaniasis	Hypoalbuminemia, Anorexia	ORPHA:507
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Double Outlet Right Ventricle	Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis	ORPHA:3426
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
D-Glyceric Aciduria	Tongue thrusting, Nonketotic hyperglycinemia, Bradycardia, Opisthotonus	OMIM:220120
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Calcinosis, Cataract, Band keratopathy, Choreoathetosis, Hypertension, Hyp...	ORPHA:79443
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia, Elevated circulating crea...	OMIM:618775
X-Linked Agammaglobulinemia	Hypopigmented skin patches, Conjunctivitis, Hypocalcemia	ORPHA:47
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dys...	OMIM:612716
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Dilated cardiomyopathy, Hypoalbuminemia, Portal hypertension	ORPHA:367
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Hypophosp...	ORPHA:411634
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h...	ORPHA:529799
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hyperpigmentation of the skin	OMIM:617575
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Oculoskeletodental Syndrome	Lacunar stroke, Hypercalcemia, Hypocalcemia, Developmental cataract	OMIM:618440
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpitations, Hyper...	ORPHA:276575
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr...	ORPHA:57777
Dahlberg-Borer-Newcomer Syndrome	Cataract, Hypocalcemia	ORPHA:1563
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc...	OMIM:255160
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Cataract, Hypertension, Hypokalemia, Hypocalcemia, Dysphagia	OMIM:617913
Congenital Enterovirus Infection	Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension	ORPHA:292
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Mottled pigmentation, Bradycardia	ORPHA:226313
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Hyperbilirubinemia, Hypoalbuminemia, Portal hypertension	ORPHA:64743
Aicardi-Goutieres Syndrome 9	Pericarditis, Portal hypertension, Hypertension, Hypoalbuminemia, Increased blood pressure, Dysto...	OMIM:619487
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Bradycardia	OMIM:608800
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Agitation, Palpitations, Hypertrophic cardiomyopathy, Polyphagia, Increased...	ORPHA:276580
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hypocalcemia, Hypomagnese...	ORPHA:73224
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Necrotizing Enterocolitis	Shock, Hyponatremia, Bradycardia, Hypotension	ORPHA:391673
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpitations, Polyp...	ORPHA:324575
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Rhabdoid Tumor	Hypertension, Hypercalcemia, Internal hemorrhage	ORPHA:69077
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat...	OMIM:310200
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity, Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylas...	ORPHA:99826
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Hypoalbuminemia, Dysphagia, Intention tremor, Action tremor	OMIM:254900
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia, Mildly elevated creatine kinase	OMIM:620351
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Dysphagia, Cardiomyopathy	ORPHA:1177
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Palpitations, Positive regi...	ORPHA:276621
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Attention deficit hyperactivity disorder, Hypercholesterolemia, Abnormal circulating...	ORPHA:90674
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia, Opisthotonus	OMIM:619272
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Pulmonic stenosis	OMIM:615508
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbuminemia, Abn...	ORPHA:186
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blo...	ORPHA:90041
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Pearson Syndrome	Cataract, Cardiac conduction abnormality, Dysphagia, Hypophosphatemia, Corneal stromal edema, Car...	ORPHA:699
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec...	ORPHA:231625
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level	OMIM:610768
Acute Adrenal Insufficiency	Hyponatremia, Orthostatic hypotension, Salt craving, Hypercalcemia, Myocardial infarction, Anorex...	ORPHA:95409
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Hypoalbuminemia, Congestive heart failure	ORPHA:67
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level, Bradycardia	ORPHA:90673
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pigmentat...	ORPHA:79396
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Faci...	OMIM:620141
Xfe Progeroid Syndrome	Hypertension, Hypoalbuminemia, Corneal scarring	OMIM:610965
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia, Antecubital pterygium	ORPHA:40366
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor...	OMIM:619927
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells	OMIM:617765
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Juvenile Polyposis Syndrome	Hematochezia, Hypokalemia, Hypoalbuminemia	OMIM:174900
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Gracile Bone Dysplasia	Aniridia, Hypocalcemia	OMIM:602361
Galloway-Mowat Syndrome 1	Cataract, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the corneal stroma, Dystonia,...	OMIM:251300
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Tremor, Hand tremor, D...	OMIM:277900
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Lujo Hemorrhagic Fever	Shock, Resting tremor, Elevated circulating C-reactive protein concentration, Myocarditis, Subcon...	ORPHA:319213
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Portal...	OMIM:251880
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Inappropriate laughter, Hypocalcemia	OMIM:618476
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Tremor, Cardiomyopathy, Hypoalbuminemia, Hypocholesterolemia, Intention tremor	OMIM:212065
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypertrophic cardiomyopathy, Hypoalbuminemia	OMIM:618329
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Hypertrophic cardiomyopathy, Hypoalbuminemia	OMIM:617303
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbuminemia, Hyper...	OMIM:617156
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis, Pul...	OMIM:222470
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Conjunctivi...	ORPHA:505248
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Palpitations, Positive regi...	ORPHA:29072
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Tachycardia, Hypokalemia	OMIM:613239
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hypokalemia, Palpitations	OMIM:188580
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Congestive heart failure, A...	ORPHA:3077
Stiff-Person Syndrome	Tachycardia, Exaggerated startle response, Opisthotonus, Hypertension, Vitiligo	OMIM:184850
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Blotching pigmentation of the sk...	OMIM:614653
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated...	ORPHA:480864
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Congestive heart failure, Decreased LDL cholesterol conc...	ORPHA:14
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia, Oral-pharyngeal dysphagia	ORPHA:221098
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Bradycardia, Hypotension	ORPHA:90051
Danon Disease	Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he...	OMIM:300257
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Tachycardia, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase,...	ORPHA:368
Leptospirosis	Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Subconjunctival ...	ORPHA:509
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Mercury Poisoning	Tachycardia, Anorexia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia	ORPHA:330021
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism	ORPHA:567546
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Posterior subcapsular cataract, ...	OMIM:602668
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level	ORPHA:264675
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb...	ORPHA:37042
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania...	ORPHA:449285
Combined Oxidative Phosphorylation Defect Type 39	Leg dystonia, Bradycardia	ORPHA:565624
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Developmental cataract	OMIM:127000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Right bundle branch block, Redu...	ORPHA:268
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Pseudo-Torch Syndrome 2	Bradycardia, Cerebral hemorrhage	OMIM:617397
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Galloway-Mowat Syndrome 3	Hypertension, Hypoalbuminemia	OMIM:617729
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy...	ORPHA:90363
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ...	ORPHA:99827
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Hypophosphatasia, Infantile	Intracranial hemorrhage, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia	OMIM:241500
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, B lymphocytopenia, Neutropenia	OMIM:601495
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Velocardiofacial Syndrome	Posterior embryotoxon, Hypocalcemia, Aggressive behavior	OMIM:192430
Late-Onset Isolated Acth Deficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia, Hypo...	ORPHA:199299
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Hypoalbuminemia	OMIM:235510
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Cataract, Hyperphosphatemia	OMIM:103580
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Aggressive behavior, Tremor, Compulsive behaviors, Attention deficit hyperactivity...	ORPHA:476126
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Infantile Myofibromatosis	Irregular hyperpigmentation, Hypercalcemia	ORPHA:2591
Encephalitis Lethargica	Tremor, Bradycardia	ORPHA:83600
Paternal Uniparental Disomy Of Chromosome 1	Hypertension, Polyphagia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia, Mydriasis	OMIM:259720
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Hypophosphatasia	Hypercalcemia	ORPHA:436
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation	OMIM:261990
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Cartilage-Hair Hypoplasia	Heart block, Cardiomyopathy, Hypocalcemia	ORPHA:175
Hyperthyroidism, Nonautoimmune	Hyperactivity, Tachycardia, Increased circulating thyroglobulin level	OMIM:609152
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Celiac Disease, Susceptibility To, 1	Hypocalcemia	OMIM:212750
Sheehan Syndrome	Hyponatremia, Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Isotretinoin-Like Syndrome	Aortic valve stenosis, Hypocalcemia	ORPHA:2306
Alg12-Cdg	Hyponatremia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injuriou...	OMIM:620330
Addison Disease	Hyponatremia, Orthostatic hypotension, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Incre...	ORPHA:85138
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Tachycardia, Abnormal repetitive mannerisms, Hypot...	ORPHA:79155
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia, Increased total bilirubin	ORPHA:90037
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Intracranial hemorrhage, Hyperbilirubinemia, Hypocalcemia, Heart murmur	ORPHA:163979
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax...	ORPHA:2929
Igg4-Related Thyroid Disease	Hypocalcemia, Dysphagia	ORPHA:64744
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia	OMIM:218700
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Hematochezia, Melena, Intestinal bleeding, Hypoalbuminemia	ORPHA:79076
Yellow Fever	Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes...	ORPHA:99829
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia	OMIM:618314
Smith-Lemli-Opitz Syndrome	Hyperactivity, Cataract, Aggressive behavior, Self-mutilation, Hypertension, Hypoalbuminemia, Ele...	OMIM:270400
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Cataract, Hypopigmented skin patches, Hypocalcemia, Attention defici...	ORPHA:567
3-Methylglutaconic Aciduria, Type Viii	Cataract, Dystonia, Tremor, Bradycardia, Dysphagia	OMIM:617248
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati...	OMIM:232300
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Hypertensive crisis	ORPHA:544482
Proximal Spinal Muscular Atrophy	Bradycardia, Dysphagia	ORPHA:70
Autosomal Recessive Malignant Osteopetrosis	Tremor, Pulmonary arterial hypertension, Hypocalcemia, Hypophosphatemia	ORPHA:667
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Rett Syndrome	Dystonia, Bruxism, Abnormal T-wave, Prolonged QTc interval, Stereotypical hand wringing	OMIM:312750
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Rajab Interstitial Lung Disease With Brain Calcifications 1	Unconjugated hyperbilirubinemia, Hypoalbuminemia, Hypocalcemia, Portal hypertension	OMIM:613658
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or...	ORPHA:230
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ...	ORPHA:542323
Hyperparathyroidism, Neonatal Severe	Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia	OMIM:239200
Osteopetrosis With Renal Tubular Acidosis	Pulmonary arterial hypertension, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig...	ORPHA:2298
Monosomy 13Q34	Hematochezia, Hypercalcemia, Epistaxis, Pulmonic stenosis	ORPHA:96168
Primary Sclerosing Cholangitis	Portal hypertension, Spider hemangioma, Congestive heart failure, Hypoalbuminemia, Palmar telangi...	ORPHA:171
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia	ORPHA:293978
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Right ventricular failure, ...	ORPHA:70591
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Tremor, Shortened PR int...	ORPHA:79102
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Congenital Sialidosis Type 2	Abnormal EKG, Cataract, Corneal opacity, Telangiectasia, Developmental cataract	ORPHA:93400
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Anorexia, Tremor, Oral-pharyngeal dysphagia, Aggressive behavior,...	ORPHA:2131
Combined Oxidative Phosphorylation Deficiency 39	Dystonia, Sinus bradycardia	OMIM:618397
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Macronodular cirrhosis, Anemia, ...	OMIM:620005
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Shortened QT interval, Hypophosphatemia, Dysphagia, Polydipsia	ORPHA:99880
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia	ORPHA:309246
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Absent circulating B cells	OMIM:307200
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
X-Linked Creatine Transporter Deficiency	Hyperactivity, Abnormal circulating creatine concentration, Athetosis, Dystonia, Self-mutilation	ORPHA:52503
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp...	OMIM:300755
Parathyroid Carcinoma	Hypercalcemia, Shortened QT interval, Hypophosphatemia, Dysphagia, Polydipsia	ORPHA:143
Hyperekplexia 3	Exaggerated startle response, Syncope	OMIM:614618
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Abnormal circulating thyroglobulin level, Bradycardia	ORPHA:226307
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c...	OMIM:301074
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Anorexia, Hypoalbuminemia, Vasculitis in t...	OMIM:619381
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Cataract, Elevated circulating creatine kinase concentration, Dilat...	OMIM:253800
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,...	ORPHA:860
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal cornea morphology, Dilated cardiomyopathy, Bradycardia, Abnormal blood ion concentration	ORPHA:79404
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Low-to-normal blood pressure, ...	OMIM:601678
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Few cafe-au-lait spots, Portal hypertension, Impulsivity, Hypomagnesemia, Dysphagia, Stereotypica...	OMIM:619503
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation...	ORPHA:137675
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Hyperactivity, Keratitis, Corneal scarring, R...	OMIM:256800
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Developmental cataract	ORPHA:93325
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD4-positive help...	ORPHA:221139
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Astigmatism, Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert...	OMIM:619534
Legius Syndrome	Hyperactivity, Cataract, Inguinal freckling, Paroxysmal atrial tachycardia, Axillary freckling, M...	ORPHA:137605
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Fibrous Dysplasia Of Bone	Large cafe-au-lait macules with irregular margins, Multiple cafe-au-lait spots, Hypercalcemia, Hy...	ORPHA:249
Multiple Endocrine Neoplasia Type 2	Hypercalcemia, Prominent corneal nerve fibers, Palpitations, Hypertensive crisis, Hypertension as...	ORPHA:653
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Bidirectional ventricular ectopy, Hypokalemia, Syncope, Palpitations, Prom...	OMIM:170390
Hyperekplexia 2	Exaggerated startle response, Astigmatism	OMIM:614619
Bohring-Opitz Syndrome	Bradycardia	ORPHA:97297
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Dysphagia, Dystonia, L...	ORPHA:845
Digeorge Syndrome	Attention deficit hyperactivity disorder, Posterior embryotoxon, Hypocalcemia, Sclerocornea	OMIM:188400
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Sarcoidosis	Abnormal cardiac ventricular function, Cataract, Hypercalcemia, Portal hypertension, Heart block,...	ORPHA:797
Charge Syndrome	Cataract, Hypocalcemia, Pulmonic stenosis, Dysphagia, Iris coloboma, Self-mutilation	OMIM:214800
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Multiple Endocrine Neoplasia, Type I	Cafe-au-lait spot, Hypercalcemia	OMIM:131100
Sandhoff Disease, Infantile Form	Mitral regurgitation, Exaggerated startle response	ORPHA:309155
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Agitation, Truncal titubation	OMIM:618056
Ppoma	Gastrointestinal hemorrhage, Hypercalcemia, Anorexia	ORPHA:97278
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, B lymphocytopenia, Cholelithiasis, P...	ORPHA:83617
Williams Syndrome	Elevated circulating creatine kinase concentration, Myocardial infarction, Tremor, Compulsive beh...	ORPHA:904
Rh Deficiency Syndrome	Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Johanson-Blizzard Syndrome	Portal hypertension, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Con...	OMIM:243800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Astigmatism, Dysphagia, Sinus bradycardia	OMIM:619482
Vipoma	Hematochezia, Hypokalemia, Hypercalcemia, Anorexia	ORPHA:97282
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Cataract	OMIM:620327
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Somatostatinoma	Gastrointestinal hemorrhage, Hypercalcemia, Anorexia	ORPHA:97283
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia	OMIM:614437
Dextrocardia	Abnormal EKG, T-wave inversion	ORPHA:1666
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia, Shortened QT interval, Hematemesis, Melena, Hypertension, Large cafe-au-...	ORPHA:652
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Grfoma	Gastrointestinal hemorrhage, Hypercalcemia, Anorexia	ORPHA:97261
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Glucagonoma	Gastrointestinal hemorrhage, Hypercalcemia, Anorexia	ORPHA:97280
Woodhouse-Sakati Syndrome	Choreoathetosis, Abnormal T-wave, Hyperlipidemia, Dystonia	OMIM:241080
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Hypercalcemia	ORPHA:913
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Sandhoff Disease	Orthostatic hypotension, Exaggerated startle response	OMIM:268800
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Hypoasparaginemia	OMIM:615574
African Trypanosomiasis	Abnormal EKG, Pericarditis, Aggressive behavior, Keratitis, Myocarditis, Congestive heart failure...	ORPHA:3385
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Exaggerated startle response, Dystonia	ORPHA:79255
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia	OMIM:617301
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Woodhouse-Sakati Syndrome	Choreoathetosis, Abnormal T-wave, Hyperlipidemia, Dystonia	ORPHA:3464
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia	ORPHA:521426
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Pmm2-Cdg	Pericarditis, Cataract, Angina pectoris, Reduced thyroxin-binding globulin, Intracranial hemorrha...	ORPHA:79318
Williams-Beuren Syndrome	Hypercalcemia, Portal hypertension, Blue irides, Hypertension, Mitral regurgitation, Pulmonic ste...	OMIM:194050
Sotos Syndrome	Cataract, Hypercalcemia, Aggressive behavior, Tremor, Astigmatism, Attention deficit hyperactivit...	ORPHA:821
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave, Cataract	ORPHA:444072
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Dysphagia	OMIM:617527
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Decreased serum iron, Dysphagia, Pulmonic stenosis, Dystonia, Stere...	ORPHA:438213
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure	OMIM:601992
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Dysphagia	OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis...	OMIM:619522

Histopathology

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

There is no histopathology data for Wbp1l

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wbp1l.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Transmembrane adaptor protein WBP1L regulates CXCR4 signalling and murine haematopoiesis.	Journal of cellular and molecular medicine (December 2019)	Wbp1l^{tm2a(EUCOMM)Hmgu}	PMC6991692

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MGI Allele	Allele Type	Produced
Wbp1l^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Wbp1l^{tm2b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Wbp1l^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Wbp1l MGI:107577

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

Eye Morphology

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X-ray

Eye Morphology

X-ray

Adult LacZ

Eye Morphology

X-ray

Immunophenotyping

Human diseases caused by Wbp1l mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data