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Gene: Vkorc1l1 MGI:1916818

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Gene Summary

Name:
vitamin K epoxide reductase complex, subunit 1-like 1
Synonyms:
2310024K08Rik

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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 leukocyte cell number Vkorc1l1em1(IMPC)J HOM Early adult 9.11×10-07
increased lean body mass Vkorc1l1em1(IMPC)J HOM Early adult 8.97×10-05
abnormal cholesterol homeostasis Vkorc1l1em1(IMPC)J HOM Early adult 5.81×10-07
increased mean corpuscular hemoglobin Vkorc1l1em1(IMPC)J HOM Early adult 1.78×10-17
increased mean corpuscular volume Vkorc1l1em1(IMPC)J HOM Early adult 2.47×10-08
increased fasting circulating glucose level Vkorc1l1em1(IMPC)J HOM Early adult 3.41×10-42
decreased circulating calcium level Vkorc1l1em1(IMPC)J HOM   Early adult 9.24×10-07
decreased erythrocyte cell number Vkorc1l1em1(IMPC)J HOM   Early adult 1.21×10-05
decreased circulating serum albumin level Vkorc1l1em1(IMPC)J HOM Early adult 3.59×10-05
decreased circulating cholesterol level Vkorc1l1em1(IMPC)J HOM Early adult 3.94×10-05
abnormal bone structure Vkorc1l1em1(IMPC)J HOM Early adult 1.93×10-07
decreased circulating total protein level Vkorc1l1em1(IMPC)J HOM Early adult 4.90×10-05
hyperactivity Vkorc1l1em1(IMPC)J HOM   Early adult 5.35×10-17
decreased bone mineral content Vkorc1l1em1(IMPC)J HOM Early adult 9.95×10-06

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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.

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Combined SHIRPA and Dysmorphology

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Eye Morphology

Images Slit Lamp

3 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Electrocardiogram (ECG)

Waveform Image

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Human diseases caused by Vkorc1l1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Vkorc1l1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste... ORPHA:398063
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Splenomega... OMIM:619868
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Failure to thrive, Reduced bone mineral density, Splenomegaly ORPHA:172
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Insulin resistance, Diabete... OMIM:612526
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... OMIM:241600
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias... OMIM:620044
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop... ORPHA:90362
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ... OMIM:618849
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Immunodeficiency 27A
Anorexia, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbuminemia, T... OMIM:209950
Immunodeficiency 115 With Autoinflammation
Anemia, Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, T lymp... OMIM:620632
Ménétrier Disease
Anorexia, Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Anemia OMIM:603278
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Leishmaniasis
Anorexia, Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Weight ... ORPHA:507
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Diarrhea 13
Failure to thrive, Hypoalbuminemia, Recurrent hypoglycemia OMIM:620357
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi... OMIM:617021
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Alpha-Heavy Chain Disease
Hypocalcemia, Anemia, Splenomegaly ORPHA:100025
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Type ... OMIM:616860
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Obesity, Hypoalbuminemia ORPHA:88643
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Failure to thrive, Severe B... OMIM:603554
Eosinophilic Gastroenteritis
Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalb... ORPHA:2070
Immunodeficiency 32B
Anemia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbumi... OMIM:226990
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Rickets, Hypokalemia, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased... OMIM:611590
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Osteomalacia ORPHA:89937
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis OMIM:226300
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Small for gestational age OMIM:256300
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron concentration, S... OMIM:615234
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Osteopor... ORPHA:2169
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypermethio... OMIM:613752
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Bone cyst, Anemia ORPHA:2668
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Anemia, Calvarial osteosclerosis, Pancytopenia, Increased bone mineral density, Hy... OMIM:259700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia OMIM:619013
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... OMIM:185000
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia, Microcytic anemia OMIM:618805
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive, Hypoglycemia ORPHA:163693
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ... ORPHA:158061
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con... ORPHA:26793
Kenny-Caffey Syndrome, Type 1
Anemia, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Hypomagnesemia OMIM:244460
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Johanson-Blizzard Syndrome
Hypoproteinemia, Failure to thrive, Diabetes mellitus, Anemia ORPHA:2315
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Shwachman-Diamond Syndrome
Aplastic anemia, Osteopenia, Normocytic anemia, Steatorrhea, Anemia, Acute myeloid leukemia, Macr... ORPHA:811
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo... OMIM:618858
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Cort... ORPHA:93324
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Abnormality of iron homeostasis, Extramedullary hematop... ORPHA:231222
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Leukopenia,... ORPHA:2298
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Anemia, Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight, Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification OMIM:618618
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati... ORPHA:300298
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypocalcemia, Leukocytosis, Fail... ORPHA:289157
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia, Weight loss, Recurrent cutaneous absce... ORPHA:47
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane... OMIM:277410
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Hypoproteinemia, Leukocytosis, Elevated circulating creatine kinase concentration, Failur... OMIM:615895
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Hypocalcemia, Failure to thrive, Hypophosphatemia, Spar... OMIM:600081
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Bone Marrow Failure Syndrome 3
Aplastic anemia, Reduced bone mineral density, Anemia, Acute myeloid leukemia, Pancytopenia, Incr... OMIM:617052
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... ORPHA:167
Celiac Disease, Susceptibility To, 1
Rickets, Steatorrhea, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Osteoporosis, Fail... OMIM:212750
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Failure to thrive, Thrombocytopenia, Hypoalbuminemia, Elevated circulating creatinine con... OMIM:608104
Kenny-Caffey Syndrome, Type 2
Anemia, Transient hypophosphatemia, Increased bone mineral density, Hypocalcemia, Thickened corte... OMIM:127000
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge... OMIM:606176
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... ORPHA:158048
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia, Hypokalemia OMIM:179800
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia, Lymphopenia OMIM:617575
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Hyperbilirub... ORPHA:1667
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Aggressive behavior OMIM:608093
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... ORPHA:292
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Failure to thrive, Neonatal hypoglycemia, Polyphagia OMIM:606407
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Anemia, Hypochromic microcytic anemia, Pancytopenia, Increas... OMIM:259720
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Hypophosp... ORPHA:93160
Beta-Thalassemia
Reduced bone mineral density, Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Splenome... ORPHA:848
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Hyperspl... ORPHA:64743
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy, Anemia, Craniosynostosis ORPHA:436
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hypocalcemic tetany, Hyperph... ORPHA:36913
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero... OMIM:232700
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemia, Hypoca... ORPHA:94089
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Thrombocytopenia, Anemia ORPHA:2123
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Osteoporosis, Neutropenia OMIM:612562
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula... ORPHA:103910
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholest... OMIM:607765
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypocalcemia, Failure to thrive,... OMIM:264700
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Failure to thrive, Motor stereotypy, Hypocholesterolemi... OMIM:610883
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me... OMIM:616943
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ... ORPHA:540
Alg6-Cdg
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Splenomegaly OMIM:608776
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Osteoporosis, Leukopenia, Thrombocyto... OMIM:127550
Phoar2-Enteropathy Syndrome
Hyperostosis, Hypoalbuminemia, Periostosis OMIM:614441
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Osteoporosis, Obesity, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Gracile Bone Dysplasia
Hypocalcemia, Decreased skull ossification, Asplenia, Failure to thrive, Hypoplastic spleen OMIM:602361
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... OMIM:616834
Multiple Myeloma
Osteopenia, Anemia, Hypercalcemia, Splenomegaly, Weight loss, Hyperproteinemia, Elevated circulat... ORPHA:29073
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... ORPHA:37042
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Majeed Syndrome
Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Attention def... OMIM:620211
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Dysphagia, Elevated circulating alpha-fetopro... ORPHA:64753
Rhabdoid Tumor
Hypercalcemia, Thrombocytopenia, Anemia, Weight loss ORPHA:69077
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Osteoporosis, Elevated circulating phytanic acid concentration, Failure to thrive, H... OMIM:266510
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly ORPHA:1655
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Elevated circulating creatine kinase concentration, Hypocholesterolemia, A... ORPHA:96180
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Liver abscess, Anemia, Leukocytosis, Weight loss, Hypoalbuminemia ORPHA:67
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Extramedullary hematopoiesis, Dec... ORPHA:231226
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia ORPHA:79319
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Steatorrhea, Anemia, Hypotriglyceridemia, Hy... ORPHA:14
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine... ORPHA:94093
Beta-Thalassemia Major
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Extramedulla... ORPHA:231214
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Generalized bone demineralization, Macrocytic anemia, Hyperuricemia,... ORPHA:199299
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Elevated circulating alpha... OMIM:251880
Aicardi-Goutieres Syndrome 9
Anemia, Osteoporosis, Failure to thrive, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Self-m... OMIM:619487
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Steatorrhea, Failure to thrive, Hypoalbuminemia OMIM:602579
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Juvenile Polyposis Syndrome
Hypoalbuminemia, Failure to thrive, Anemia, Hypokalemia OMIM:174900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Inappropriate laughter, Increased skull ossifi... OMIM:618476
Hypophosphatasia, Infantile
Anorexia, Anemia, Unossified vertebral bodies, Elevated plasma pyrophosphate, Decreased calvarial... OMIM:241500
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Hypocalcemia, Unconjugat... OMIM:613658
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Decreased circulating carnitine concentration, Decreased body weight, Failure to thrive, ... ORPHA:89842
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Blue Diaper Syndrome
Increased body weight, Increased proinsulin:insulin ratio, Hypercalcemia, Recurrent hypoglycemia,... ORPHA:94086
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Alg12-Cdg
Abnormal bone ossification, B lymphocytopenia, Failure to thrive, Hyponatremia, Thrombocytopenia,... ORPHA:79324
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Mucopolysaccharidosis-Plus Syndrome
Anemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Neutropenia OMIM:617303
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... ORPHA:36234
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Dysphagia, Normochromic anemia OMIM:254900
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Steatorrhea, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis OMIM:212065
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Dysphagia ORPHA:261250
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbum... OMIM:617093
Oculoskeletodental Syndrome
Hypocalcemia, Splenomegaly, Hypercalcemia, Small for gestational age OMIM:618440
Pearson Syndrome
Steatorrhea, Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, G... ORPHA:699
Adamantinoma
Hypercalcemia ORPHA:55881
Al Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Dysphagia, Weight los... ORPHA:85443
Castleman Disease
Anemia, Elevated circulating C-reactive protein concentration, Myelofibrosis, Thrombocytopenia, W... ORPHA:160
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly, Dysphagia OMIM:617913
Liver Disease, Severe Congenital
Anemia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia, Hyperalaninemia, Failur... OMIM:619991
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Hypophosphatemia, Hypocalcemia ORPHA:352540
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Episodic hemolytic anemia, Increased blood urea nitrogen, Obesity, Hypercalcemia, Cra... ORPHA:251004
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Ectopic ossifica... ORPHA:79444
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Failure to thrive, Hepatosplenomegaly ORPHA:367
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Craniosynostosis, Hypercalcemia OMIM:614732
Mody
Large for gestational age, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, H... ORPHA:552
Wilson Disease
Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Oste... OMIM:277900
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Failure to thrive, Hypoglycemia, Small for gestational age OMIM:607143
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentra... ORPHA:2785
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Gitelman Syndrome
Polydipsia, Hypermagnesemia, Maternal diabetes, Iron deficiency anemia, Hypokalemia, Hypocalcemia... ORPHA:358
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Failure to thrive, Hyp... OMIM:619055
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Addison Disease
Anorexia, Hyperkalemia, Normocytic anemia, Generalized bone demineralization, Hyperuricemia, Hypo... ORPHA:85138
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Hyperparathyroidism, Neonatal Severe
Polydipsia, Calcinosis, Anemia, Failure to thrive, Hypercalcemia, Hypophosphatemia, Splenomegaly OMIM:239200
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Familial Isolated Hyperparathyroidism
Osteopenia, Generalized osteoporosis, Hypercalcemia, Hypophosphatemia ORPHA:99879
Pseudohypoparathyroidism Type 1A
Calcinosis, Reduced bone mineral density, Hypocalcemic seizures, Increased bone mineral density, ... ORPHA:79443
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Patchy osteosclerosis ORPHA:2323
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c OMIM:609812
Marburg Hemorrhagic Fever
Anorexia, Elevated circulating creatinine concentration, Hypokalemia, Neutrophilia in presence of... ORPHA:99826
Cholera
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia ORPHA:173
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Decre... OMIM:619381
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphopenia, Reduce... ORPHA:90363
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Glycosuria, Failure to thrive, Hyponatremia,... ORPHA:411634
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol ... OMIM:222100
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Osteoporosis, Splenomegaly, C... ORPHA:186
Acute Adrenal Insufficiency
Anorexia, Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Fail... ORPHA:95409
Sitosterolemia 1
Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat... OMIM:210250
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Anemia, Hypocalcemia, Abnormally ossified vertebrae, Failure to thriv... ORPHA:175
Pseudohypoparathyroidism, Type Ia
Subcutaneous ossification, Osteoporosis, Obesity, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypermethioninemia, Hypergalactosemia, Failure to thrive, Increa... OMIM:222470
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Hyperalaninemia OMIM:618329
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening, Hypercalcemia... OMIM:617994
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Failure to thrive, Anemia, Craniosynostosis ORPHA:79396
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Failure to thrive in infancy, Hypoketotic hypoglycemia ORPHA:746
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Anemia, Hypocalcemia, Splenomegaly, Hypophosphatemia... ORPHA:667
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Myelofibrosis, Thrombocytopenia, Leukopenia, Hyperostosis cranial... OMIM:231095
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Reduced bone mineral density, Hypomagnesemia ORPHA:428
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Tangier Disease
Hypertriglyceridemia, Anemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia ORPHA:31150
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Failure to thrive, Ellip... OMIM:618278
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Calvarial osteosclerosis, Decreased skull ossification, Cortical t... ORPHA:93325
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Diabetes mellitus, Hemo... ORPHA:544482
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, Hypoalbum... OMIM:617156
Hyperlysinemia, Type I
Hyperactivity, Hypoornithinemia, Anemia, Hyperlysinemia OMIM:238700
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Infantile Myofibromatosis
Bone cyst, Hypercalcemia, Osteolysis ORPHA:2591
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Hypoalbuminemia ORPHA:505248
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:97289
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia OMIM:604484
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypoalbuminemia, Hypernatremia OMIM:615508
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Hypoalbuminemia, Coronal craniosynostosis OMIM:235510
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia ORPHA:163979
Double Outlet Right Ventricle
Hypocalcemia, Failure to thrive ORPHA:3426
Fibrous Dysplasia Of Bone
Rickets, Increased circulating cortisol level, Abnormal bone structure, Cortical irregularity, Th... ORPHA:249
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Cachexia, Refractory anemia, Anemia ORPHA:79076
Hypomagnesemia 3, Renal
Polydipsia, Rickets, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide con... OMIM:248250
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Osteoporosis, Failure to thrive, Neonatal hyperbilirubinemia, Attention deficit hy... ORPHA:73272
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Lead Poisoning
Abnormal T cell morphology, Anorexia, Cranial hyperostosis, Decreased HDL cholesterol concentrati... ORPHA:330015
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Subperiosteal bone formation, Hyperostosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, T lymphocytopenia, Failure to thrive, Coombs-positive hemo... ORPHA:83471
Xfe Progeroid Syndrome
Cachexia, Failure to thrive, Hypoalbuminemia OMIM:610965
Primary Sclerosing Cholangitis
Osteopenia, Osteoporosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbuminemia, Type I ... ORPHA:171
Paget Disease Of Bone 2, Early-Onset
Sclerosis of skull base, Osteosclerosis of the ulna, Hypercalcemia, Osteolysis OMIM:602080
Shwachman-Diamond Syndrome 1
Steatorrhea, Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification at anterior rib... OMIM:260400
Hennekam Syndrome
Hypocalcemia, Craniosynostosis, Splenomegaly, Lymphopenia ORPHA:2136
Juvenile Polyposis Syndrome
Failure to thrive, Hypoproteinemia, Anemia, Brain abscess ORPHA:2929
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hyperaldosteronism, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:466650
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro... ORPHA:97214
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia, Addictive alcohol use ORPHA:31826
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia OMIM:617729
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Compulsive behaviors, Failure to thrive, Hypercalcemia, Motor stereotypy, Attention deficit hyper... ORPHA:476126
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hyperuricemia, Leukocytosis, Hyperammonemia, Hyperglycemia, Weight loss, Hyp... ORPHA:134
Dubowitz Syndrome
Aplastic anemia, Acute lymphoblastic leukemia, Hyperactivity, Hypocholesterolemia OMIM:223370
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Hyperactivity, Elevated circulating 7-dehydrocholesterol concentration, Fai... OMIM:270400
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Vipoma
Anorexia, Hypokalemia, Normochromic anemia, Hypercalcemia, Weight loss, Diabetes mellitus, Increa... ORPHA:97282
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pierson Syndrome
Hypoproteinemia OMIM:609049
Velocardiofacial Syndrome
Hypocalcemia, Aggressive behavior OMIM:192430
22Q11.2 Deletion Syndrome
Hypocalcemia, Hypoplasia of the thymus, Multiple suture craniosynostosis, Failure to thrive, Obes... ORPHA:567
Somatostatinoma
Anorexia, Steatorrhea, Hypochromic microcytic anemia, Hypercalcemia, Weight loss, Diabetes mellit... ORPHA:97283
Vitamin D-Dependent Rickets, Type 2A
Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Failure to thrive, Hypophosphate... OMIM:277440
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Glucose-Galactose Malabsorption
Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia ORPHA:35710
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperglycemi... OMIM:615812
Glucagonoma
Anorexia, Steatorrhea, Normochromic anemia, Hypercalcemia, Weight loss, Diabetes mellitus, Acanth... ORPHA:97280
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Small for gestational age OMIM:251300
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypercalcemia, Hypophosphatemia OMIM:156400
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Diabetes mellitus ORPHA:2237
Kawasaki Disease
Hypoalbuminemia, Thrombocytosis, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2331
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Hypocalcemic seizures, Anemia, Abnormal trabecular bone morphology, Splenomegaly OMIM:612301
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F OMIM:617101
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Hyperglycemia, Thrombocytopenia, Small ... ORPHA:391673
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased circulating renin level, Fail... OMIM:601678
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Hypocalcemia, Polyphagia, Fixated interests, Motor stereotypy, Attenti... OMIM:620330
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting OMIM:618314
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Cranioectodermal Dysplasia 1
Hypocalcemia, Sagittal craniosynostosis, Osteoporosis OMIM:218330
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, HbH hemoglobin, Microcytic anemia ORPHA:98791
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia ORPHA:96168
Digeorge Syndrome
Anemia, Hypocalcemia, Hypoplasia of the thymus, Obesity, Thrombocytopenia, Splenomegaly, Attentio... OMIM:188400
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Osteoporosis, Hyperglycemia, Abdominal obesity, Increased circulating cort... OMIM:615954
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Impulsivity, Hypernatremia, Thrombocytopenia, Hyperglycemia, Hypoglycem... OMIM:620423
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia, Osteomalacia, Renal hypophosphatemia ORPHA:405
Leptospirosis
Anorexia, Thrombocytopenia, Hyperproteinemia ORPHA:509
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Impulsivity, Failure to thrive, Stereotypical body rocking, Hepatosplenomegaly, Dys... OMIM:619503
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Obesity, Hypercalcemia, Craniosynostosis ORPHA:369837
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Argininemia
Anorexia, Reduced erythrocyte arginase activity, Hyperactivity, Hyperargininemia, Hyperammonemia OMIM:207800
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Increased circulating cortisol level OMIM:131100
Parathyroid Carcinoma
Polydipsia, Osteoporosis, Hypercalcemia, Hypophosphatemia, Dysphagia, Weight loss ORPHA:143
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Osteoporosis, Hypercalcemia, Hypophosphatemia, Dysphagia ORPHA:99880
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Hyperbilirubinemia, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, H... OMIM:619534
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Thymoma
Aplastic anemia, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Persistence of hemoglobin F OMIM:619769
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Sarcoidosis
Anemia, Bone cyst, Increased T cell count, Leukopenia, Thrombocytopenia, Weight loss, Hypercalcem... ORPHA:797
Ppoma
Anorexia, Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:97278
Charge Syndrome
Hypocalcemia, Self-mutilation, Dysphagia, Lymphopenia OMIM:214800
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia, Hypoalbuminemia, Splenomegaly ORPHA:75565
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration, Failure to thrive, Splenomegaly, Conjugat... OMIM:243800
Zollinger-Ellison Syndrome
Increased glucagon level, Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:913
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anemia, Abnormal hemoglobin ORPHA:847
Multiple Endocrine Neoplasia Type 4
Increased glucagon level, Hypercalcemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia,... ORPHA:276152
Grfoma
Anorexia, Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:97261
Pheochromocytoma
Hypercalcemia OMIM:171300
Multiple Endocrine Neoplasia Type 1
Anorexia, Reduced bone mineral density, Hypercalcemia, Weight loss, Primary hypercortisolism, Ost... ORPHA:652
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Motor stereotypy, Reduced alpha/beta synthesis ratio OMIM:301040
Pmm2-Cdg
Osteopenia, Hyperinsulinemia, Reduced thyroxin-binding globulin, Osteoporosis, Failure to thrive,... ORPHA:79318
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Williams Syndrome
Osteopenia, Abnormal circulating lipid concentration, Increased bone mineral density, Compulsive ... ORPHA:904
Williams-Beuren Syndrome
Obsessive-compulsive trait, Osteopenia, Glucose intolerance, Osteoporosis, Obesity, Hypercalcemia... OMIM:194050
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Sotos Syndrome
Neonatal hypoglycemia, Acute lymphoblastic leukemia, Hypercalcemia, Attention deficit hyperactivi... ORPHA:821
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Alkaptonuria
Reduced bone mineral density, Hemolytic anemia, Methemoglobinemia ORPHA:56

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 Vkorc1l1

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 Vkorc1l1.

No publications found that use IMPC mice or data for Vkorc1l1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Vkorc1l1em1(IMPC)J Exon Deletion Mice
Vkorc1l1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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