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Gene: Rras MGI:98179

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Gene Summary

Name:
related RAS viral (r-ras) oncogene
Synonyms:
Rras1

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Rrasem1(IMPC)H HOM Early adult 8.08×10-09
increased grip strength Rrasem1(IMPC)H HOM Early adult 7.92×10-05
decreased fasting circulating glucose level Rrasem1(IMPC)H HOM Early adult 2.07×10-05
increased circulating triglyceride level Rrasem1(IMPC)H HOM Early adult 7.10×10-06
increased circulating serum albumin level Rrasem1(IMPC)H HOM Early adult 8.38×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rras mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Rras by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Noonan Syndrome
Pulmonary artery stenosis, Arrhythmia ORPHA:648

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis OMIM:604091
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Middle cerebral artery stenosis, Cystic medi... OMIM:132900
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:144600
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic ... OMIM:185500
Grange Syndrome
Hypertension, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus, Hypocalcemia OMIM:612526
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Generalized arterial calcification, Coronary artery calcification, Myocardial infar... OMIM:208000
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Lipodystrophy, Familial Partial, Type 4
Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia ORPHA:71529
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia ORPHA:163693
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hypertriglyceridemia OMIM:615238
Adamantinoma
Hypercalcemia ORPHA:55881
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia OMIM:610717
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... OMIM:611788
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral artery atherosclerosis, Hypertension, Coronary artery atherosclerosis, Arterial stenosis ORPHA:1192
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Pancytopenia And Occlusive Vascular Disease
Peripheral arterial stenosis OMIM:167850
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Ascending tubular aorta aneurysm, Hypertensive crisis,... ORPHA:3287
Phace Association
Plaque-like facial hemangioma, Coarctation of aorta, Patent ductus arteriosus, Anomalous branches... OMIM:606519
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypert... OMIM:606721
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Blue Diaper Syndrome
Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia ORPHA:94086
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Hypertriglyceridemia ORPHA:280356
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:618620
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabetes mellitus, ... OMIM:604367
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Akt2-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance ORPHA:79085
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypertension, Aortic dissection, Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, M... ORPHA:91387
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Temple Syndrome
Maturity-onset diabetes of the young, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia OMIM:613027
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Glycerol Kinase Deficiency
Hypoglycemia, Hypertriglyceridemia OMIM:307030
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased proportion of class-sw... OMIM:615513
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Cerebral ischemia, Transient ischemic... ORPHA:136
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating cre... ORPHA:435660
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Hypertension, Cerebral artery atherosclerosis, Mitral regurgitation, He... ORPHA:391665
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Aorta Coarctation
Hypertension, Coarctation of the descending aortic arch, Persistent left superior vena cava, Pulm... ORPHA:1457
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:26793
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... ORPHA:650
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance ORPHA:363400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Vasculitis, Pulmonary embolism, Arter... ORPHA:228116
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Cholera
Hyponatremia, Hypoglycemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration ORPHA:173
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Hypophosphatemia, Glycosuria, Diabetes mellitus... ORPHA:2088
Congenital Generalized Lipodystrophy
Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Increased C-pe... ORPHA:528
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess OMIM:618108
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Pseudoxanthoma Elasticum
Hypertension, Angina pectoris, Multiple lipomas, Restrictive cardiomyopathy, Telangiectasia of th... ORPHA:758
Omenn Syndrome
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... OMIM:603554
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperlipidemia OMIM:232400
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance OMIM:615381
Citrullinemia, Type Ii, Adult-Onset
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia OMIM:603471
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... ORPHA:2298
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Coronary artery atherosclerosis ORPHA:79084
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Mandibuloacral Dysplasia
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... ORPHA:2457
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Hypertension, Myocarditis, Hypertrophic cardiomyopathy, Aortic dissection... ORPHA:3342
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Dysbetalipoproteinemia
Accelerated atherosclerosis, Type IV atherosclerotic lesion, Premature coronary artery atheroscle... ORPHA:412
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Familial Thrombocytosis
Syncope, Myelodysplasia, Pulmonary arterial hypertension, Cerebral ischemia, Chronic myelogenous ... ORPHA:71493
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... OMIM:607594
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Angina pectoris, Medial calcification of medium-sized arteries, Arterioscler... OMIM:177850
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypocalcemia ORPHA:746
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperuricemia, Diabet... ORPHA:79083
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia ORPHA:66628
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Precocious atherosclerosis, Myocardial infarction, Con... OMIM:176670
Visceral Steatosis, Congenital
Hypoglycemia, Hypocalcemia OMIM:228100
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia ORPHA:179494
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R... ORPHA:79240
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Moyamoya phenomenon, Ischemic stroke, ... ORPHA:280679
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hypocalcemia, Hypomagnesemia, Type I diabetes mellitus, Hypoalbuminem... ORPHA:37042
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Grange Syndrome
Carotid artery stenosis, Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension OMIM:602531
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Paget Disease Of Bone 6
Coronary artery atherosclerosis OMIM:616833
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia ORPHA:73224
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance ORPHA:2348
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Celiac Disease, Susceptibility To, 1
Steatorrhea, Type I diabetes mellitus, Hypocalcemia OMIM:212750
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Cutis Marmorata Telangiectatica Congenita
Capillary hemangioma, Telangiectasia of the skin, Patent ductus arteriosus, Arterial stenosis, Ar... ORPHA:1556
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Steatorrhea, Hypoalbuminemia ORPHA:2070
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Pseudoxanthoma Elasticum
Hypertension, Accelerated atherosclerosis, Retinal hemorrhage, Renovascular hypertension, Restric... OMIM:264800
Seckel Syndrome 10
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Glycosuria, Diabetes mellitu... OMIM:617253
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79444
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia ORPHA:428
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Hypophosphatasia
Hypercalcemia ORPHA:436
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B ... OMIM:618534
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Primary hyperaldosteronism, Insulin resistance, Hyp... ORPHA:358
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Vascular dilatation, Arterial stenosis, Patent ductus arteriosus ORPHA:2637
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperchol... ORPHA:264580
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Transient hyperlipidemia, Hypoketotic hypogly... OMIM:255120
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Cerebral artery atherosclerosis, Renal artery stenosis, Coronary artery atherosclerosis OMIM:209010
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyperglycemia, Hype... OMIM:151660
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Fasting hypoglycemia, Hypercholesterolemia, H... ORPHA:370
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hyperinsulinemia, Hypertriglyceridemia, Insul... OMIM:613327
Apolipoprotein A-I Deficiency
Premature coronary artery atherosclerosis, Atherosclerosis, Angina pectoris ORPHA:425
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Leishmaniasis
Hypoalbuminemia ORPHA:507
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:278000
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Neonatal insulin-dependent dia... ORPHA:1667
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia ORPHA:369
Alstrom Syndrome
Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyperuricemia, Hype... OMIM:203800
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypoglycemia, Neonatal hypog... OMIM:619055
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Diabetes mellitus, Hyperlipidemia, Hypertriglyce... ORPHA:444490
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Aortic root aneurysm, Basal cell car... ORPHA:363618
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79443
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Tangier Disease
Myocardial infarction, Atherosclerosis, Coronary artery atherosclerosis OMIM:205400
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
Pearson Syndrome
Hypokalemia, Hypophosphatemia, Glycosuria, Hyperalaninemia, Hypomagnesemia, Steatorrhea, Diabetes... ORPHA:699
Aortic Aneurysm, Familial Thoracic 10
Abdominal aortic aneurysm, Mitral regurgitation, Aortic root aneurysm, Aortic arch aneurysm, Coro... OMIM:617168
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Menkes Disease
Intracranial hemorrhage, Exostoses, Gastrointestinal hemorrhage, Vascular dilatation, Venous insu... ORPHA:565
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hypoglycemia, Hyperuricemia, Type I diabetes mellitus, Decreased cir... ORPHA:199299
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoglycemia, Hypoalbuminemia OMIM:618329
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Hypophosphatasia, Infantile
Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Coronary artery stenosis OMIM:615812
Truncus Arteriosus
Interrupted aortic arch, Truncus arteriosus, Anomalous origin of the left common carotid artery f... ORPHA:3384
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Hyperuricemia, Increased circulating ren... ORPHA:95409
Neurofibromatosis Type 1
Hypertension, Neoplasm of the skin, Astrocytoma, Meningioma, Plexiform neurofibroma, Spinal neuro... ORPHA:636
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Diabetes mellitus, Hypocalcemia ORPHA:544482
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, I... ORPHA:90041
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Insulin resistance ORPHA:280365
Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Diabetes mellitus, Hypocalcemia ORPHA:280651
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Hepato... OMIM:606367
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication, Periph... OMIM:259900
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Hypercholesterolemia, Familial, 1
Coronary artery atherosclerosis OMIM:143890
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypoglycemia, Hypokalemia, Hyperbilirubin... ORPHA:88673
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level, Hypoglycemia OMIM:131100
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Methanol Poisoning
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia ORPHA:31825
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Hypophosphatemia OMIM:239200
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... ORPHA:470
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Hyperuricemia, Type I diabetes mellitus,... ORPHA:85138
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
3P25.3 Microdeletion Syndrome
Coronary artery atherosclerosis, Patent ductus arteriosus, Pulmonic stenosis ORPHA:435638
Alg12-Cdg
Recurrent hypoglycemia, Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... ORPHA:35078
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating apolipoprotein... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... ORPHA:89842
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
H Syndrome
Diabetes mellitus, Hypertriglyceridemia ORPHA:168569
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Xanthelasma, Hypertriglyceride... ORPHA:79259
Cardiac Diverticulum
Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Patent ductus arte... ORPHA:1686
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Palpitations, Low-output congestive heart failure, Cardiomyopathy, Coro... ORPHA:565612
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Bone marrow hypocellularity, S... ORPHA:2442
Monosomy 13Q34
Infantile hypercalcemia, Insulin resistance ORPHA:96168
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Atypical Werner Syndrome
Hypertension, Ovarian neoplasm, Neoplasm of the lung, Meningioma, Neoplasm of the breast, Neoplas... ORPHA:79474
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... ORPHA:508542
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... OMIM:614700
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypoglycemia, Hypertriglyceridemia, Neonatal hypoglycemia OMIM:619418
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Steatorrhea, Hypertriglyceridemia ORPHA:275761
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Chédiak-Higashi Syndrome
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia ORPHA:167
Classical-Like Ehlers-Danlos Syndrome Type 2
Diabetes mellitus, Hypertriglyceridemia ORPHA:536532
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... ORPHA:90363
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Hyperins... OMIM:608612
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose ... OMIM:248370
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia ORPHA:98908
Fibrous Dysplasia Of Bone
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia, Diabetes mellitus ORPHA:249
Gastrocutaneous Syndrome
Coronary artery atherosclerosis ORPHA:2069
Williams Syndrome
Hypertrophic cardiomyopathy, Hypertension, Retinal arteriolar tortuosity, Abnormal carotid artery... ORPHA:904
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly OMIM:616084
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance ORPHA:90970
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma free carnitine, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating c... ORPHA:157
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Mastocytosis
Hypercalcemia ORPHA:98292
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Tangier Disease
Carotid artery stenosis, Accelerated atherosclerosis, Coronary artery stenosis ORPHA:31150
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Vipoma
Hypercalcemia, Increased circulating cortisol level, Diabetes mellitus, Hypokalemia ORPHA:97282
Somatostatinoma
Hypercalcemia, Increased circulating cortisol level, Steatorrhea, Diabetes mellitus ORPHA:97283
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Hypertension, Pulmonary artery aneurysm, Ascending tubular aorta aneurysm,... ORPHA:286
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Fasting hyper... ORPHA:276152
Pheochromocytoma
Hypercalcemia OMIM:171300
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Hypertriglyceridemia OMIM:608594
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia ORPHA:293978
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Abnormal aortic morphology, Cardiomyopathy, Arrhythmia, Peripheral arterial stenosi... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Abnormal aortic morphology, Cardiomyopathy, Arrhythmia, Peripheral arterial stenosi... ORPHA:217093
Familial Multiple Lipomatosis
Hyperlipidemia, Insulin resistance ORPHA:199276
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Hypertriglyceridemia OMIM:269700
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypoglycemia, Hypokalemia, Elevated circulating creatine kinase concentration, E... ORPHA:99826
Mucopolysaccharidosis Type 2
Hypertension, Abnormal aortic morphology, Cardiomyopathy, Arrhythmia, Peripheral arterial stenosis ORPHA:580
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Glucagonoma
Hypercalcemia, Increased circulating cortisol level, Steatorrhea, Diabetes mellitus ORPHA:97280
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma free carnitine, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating c... ORPHA:228308
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Zollinger-Ellison Syndrome
Hypercalcemia, Increased glucagon level, Increased circulating cortisol level ORPHA:913
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypertriglyceridemia, Hypokalemia OMIM:619573
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Digeorge Syndrome
Hypocalcemia OMIM:188400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance ORPHA:90154
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99880
Glycogen Storage Disease Ia
Xanthelasma, Hypoglycemia, Hyperlipidemia, Hyperuricemia OMIM:232200
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Impaired glucose tolerance, Elevated circulating C-react... OMIM:256040
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:143
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Hypocalcemia OMIM:619503
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hyperlipidemia, Increased LDL cholesterol concentration,... ORPHA:77293
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper... ORPHA:221139
Primary Pigmented Nodular Adrenocortical Disease
Type II diabetes mellitus, Hyperlipidemia, Glucose intolerance, Increased circulating cortisol le... ORPHA:189439
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Diabetes mellitus, Hypocalcemia OMIM:243800
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Glucose intolerance, Increased circulating cortisol level, Paradoxical increased ... ORPHA:189427
Glycogen Storage Disease Ib
Xanthelasma, Hypoglycemia, Hyperlipidemia, Hyperuricemia OMIM:232220
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Nijmegen Breakage Syndrome
B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:251260
Primary Sclerosing Cholangitis
Type I diabetes mellitus, Hypoalbuminemia ORPHA:171
Estrogen Resistance Syndrome
Coronary artery atherosclerosis ORPHA:785
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Charge Syndrome
Hypocalcemia OMIM:214800
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia OMIM:235400
Sitosterolemia 1
Coronary artery atherosclerosis OMIM:210250
Glycogen Storage Disease Ic
Xanthelasma, Hypoglycemia, Hyperlipidemia, Hyperuricemia OMIM:232240
19P13.12 Microdeletion Syndrome
Hyperlipidemia ORPHA:254346
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... ORPHA:391487
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia OMIM:264090
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Insulin resistance ORPHA:90153
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia ORPHA:437
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Absent circulating B cells OMIM:307200
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance ORPHA:91
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia ORPHA:1830
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Hyperlipidemia ORPHA:567983
Wiedemann-Rautenstrauch Syndrome