Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
albumin
Synonyms:
Alb1,  Alb-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Alb 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 Alb by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Elevated circulating aspar... OMIM:619658
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating aspartate aminotransferase concentration, Elevated gamma-glutamyltransferase... OMIM:619868
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... OMIM:616829
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia OMIM:619073
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Jaundice, Hypoalbuminemia, Hepatic failure OMIM:617156
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia OMIM:246700
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Jaundice ORPHA:172
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia ORPHA:89937
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Elevated alkaline phosphatase of... ORPHA:398063
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration OMIM:174050
Osteosclerotic Metaphyseal Dysplasia
Elevated circulating alkaline phosphatase concentration OMIM:615198
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration OMIM:606263
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... OMIM:619484
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Elevated circulating alkaline phosphatase concentration, Elevated hepatic transam... OMIM:214900
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Jaundice,... OMIM:605479
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated gamma-glutamyltransferase level, Elevated hepatic transaminase, Hypoalbuminemia, Decreas... OMIM:242150
Alg6-Cdg
Decreased LDL cholesterol concentration, Jaundice, Abnormal enzyme/coenzyme activity, Hypoalbumin... ORPHA:79320
Mpi-Cdg
Decreased liver function, Abnormal enzyme/coenzyme activity, Portal hypertension, Hypoalbuminemia ORPHA:79319
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia OMIM:618805
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Elevated circulating C-re... ORPHA:158061
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alkaline phosphatase concentration, Hypermethioninemia, Abnormal circulating... ORPHA:247598
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Genetic Recurrent Myoglobinuria
Hypocalcemia, Elevated aldolase level, Increased circulating lactate dehydrogenase concentration,... ORPHA:99845
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Bile Acid Synthesis Defect, Congenital, 2
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Ele... OMIM:235555
Hypophosphatasia, Childhood
Elevated plasma pyrophosphate, Low alkaline phosphatase OMIM:241510
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration OMIM:193100
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia OMIM:619013
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating al... OMIM:613070
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Ele... ORPHA:79302
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Alg1-Cdg
Decreased liver function, Hypoalbuminemia ORPHA:79327
Hyperostosis Frontalis Interna
Elevated circulating alkaline phosphatase concentration OMIM:144800
Blue Diaper Syndrome
Elevated hepatic transaminase, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein, Elevated cir... OMIM:619662
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating creatine kinase concentration, Elevated circulating alkaline phosphatase con... OMIM:615424
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hepatic failure, Elevated circulating creatine kinase co... OMIM:616828
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hepa... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase OMIM:618879
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration ORPHA:329475
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hepatic failure, Elevated hepatic transaminase, Hypoalbuminemia, Portal hyper... OMIM:251880
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Leishmaniasis
Elevated hepatic transaminase, Hypoalbuminemia ORPHA:507
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration OMIM:239100
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia, Prolonged neonatal jaundice ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia, Prolonged neonatal jaundice ORPHA:529799
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... ORPHA:88618
Timothy Syndrome
Hypocalcemia OMIM:601005
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Hepatic failure, Elevated hepatic transaminase, Hypoalbuminemia, Portal... ORPHA:367
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Increased circulating lact... OMIM:259700
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, E... ORPHA:247585
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Oncogenic Osteomalacia
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia ORPHA:352540
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Acute hepatic failure, Hyperammonemia, Elevated hepatic transaminase, Hypoalb... ORPHA:1667
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Elevated circulating alkaline phosphatase concentration, Hyperphosphatemia OMIM:614207
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Elevated circulating alkaline phosphatase concentration, Abnormal enzyme/co... ORPHA:79303
Hepatoportal Sclerosis
Hyperbilirubinemia, Elevated hepatic transaminase, Hypoalbuminemia, Portal hypertension, Jaundice ORPHA:64743
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Elevated circulating creatine kinase concentration, Elevated circulating alkaline phosphatase con... OMIM:615422
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Elevated c... ORPHA:94093
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Elevated hepatic transaminase, Hyp... OMIM:603553
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Elevated hepatic transaminase, Abnormal lactate dehydrog... ORPHA:284426
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein,... OMIM:613095
Primary Biliary Cholangitis
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Abnormal circulating li... ORPHA:186
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Elevated t... ORPHA:94059
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures, Elevated alkaline phosphatase of bone origin ORPHA:289157
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Elevated hepatic transami... ORPHA:540
Osteosarcoma
Elevated circulating alkaline phosphatase concentration, Abnormal lactate dehydrogenase level, In... ORPHA:668
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hypoalbum... ORPHA:67
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic failure OMIM:602579
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
X-Linked Agammaglobulinemia
Hepatitis, Hypocalcemia ORPHA:47
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration OMIM:616833
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Elevated circulating alkaline phosphatase concentration, Intrahepatic chol... OMIM:601847
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Hepatic failure, Acute hepatic failure, Decreased HDL ch... OMIM:278000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated hepatic transa... OMIM:613812
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated gamma-glutamyltransferase level, Elevated hepatic transaminase... OMIM:618329
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Hyperphosphatasia With Mental Retardation Syndrome 6
Elevated circulating creatine kinase concentration, Elevated circulating alkaline phosphatase con... OMIM:616809
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Elevated alkaline phosphatase of bone origin, Hypoca... ORPHA:411634
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating alkaline phosphatase concentration OMIM:122860
Familial Expansile Osteolysis
Elevated circulating alkaline phosphatase concentration OMIM:174810
Congenital Enterovirus Infection
Hepatitis, Hypoalbuminemia, Hyperammonemia, Hepatic failure ORPHA:292
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration OMIM:613312
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration OMIM:606893
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Hepatic failure OMIM:235255
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatine kinase concentration, Hepatitis, Elevated circulating... ORPHA:36234
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase OMIM:619985
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Decreased prealbumin level, Elevated hepatic transaminase, Hepatiti... ORPHA:37042
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hypophosphatemia, Elevated circulating alkaline phosphatase concen... OMIM:616026
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Cholera
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia ORPHA:173
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypokalemia OMIM:227810
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Hepatic failure, Acute hepatic fa... OMIM:277900
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... OMIM:613489
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Elevated alkaline phosphatase of bone origin OMIM:613388
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Elevated circulating alkaline phosphatase concentration, Abnormal circulating fat... ORPHA:567983
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos... ORPHA:263501
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Mitochondrial Trifunctional Protein Deficiency
Chronic hepatic failure, Hypocalcemia ORPHA:746
Al Amyloidosis
Increased circulating NT-proBNP concentration, Elevated circulating alkaline phosphatase concentr... ORPHA:85443
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level OMIM:619356
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hepatic failure ORPHA:1655
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hypoalbuminemia, Portal hypertension OMIM:619487
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Elevated hepatic transaminase, Hypoalbuminemia, Hyponatremia, Po... ORPHA:88673
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating alkaline phosphatase concentrati... OMIM:307800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Elevated circulating alkaline phosphatase concentration OMIM:615716
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Hypocalcemia OMIM:212750
Alg12-Cdg
Abnormal enzyme/coenzyme activity, Elevated hepatic transaminase, Hypocholesterolemia, Hypoalbumi... ORPHA:79324
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Paget Disease Of Bone 2, Early-Onset
Elevated circulating alkaline phosphatase concentration, Hypercalcemia OMIM:602080
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Elevated hepatic tra... ORPHA:69665
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Hypoalbuminemia OMIM:610965
Hyperparathyroidism, Transient Neonatal
Elevated circulating alkaline phosphatase concentration OMIM:618188
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Hypophosphatasia
Hypercalcemia ORPHA:436
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Fanconi-Bickel Syndrome
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Eleva... ORPHA:2088
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Visceral Steatosis, Congenital
Hypocalcemia, Jaundice OMIM:228100
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Hepatic failure OMIM:259720
Paget Disease Of Bone 3
Elevated circulating alkaline phosphatase concentration OMIM:167250
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Decreased HDL cholesterol ... ORPHA:14
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated circulating creatine kinase concentration, Elevated alkaline phosphatase of bone origin OMIM:167320
Trichohepatoenteric Syndrome 1
Hepatic failure, Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Increased ... OMIM:222470
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Hy... ORPHA:89842
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypercalcemia OMIM:156400
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Elevated circulating alkaline phosphatase con... ORPHA:52430
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hypophosphatemic rickets, Elevated circulating alkaline phosphatas... ORPHA:263455
Primary Sclerosing Cholangitis
Elevated alkaline phosphatase of hepatic origin, Acute hepatic failure, Elevated hepatic transami... ORPHA:171
Xq12-Q13.3 Duplication Syndrome
Elevated circulating creatine kinase concentration, Low alkaline phosphatase ORPHA:314389
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration OMIM:600081
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:614576
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemic seizures OMIM:264700
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Hypocalcemia, Hepatic failure, Elevated circulating creatine kinase con... ORPHA:466650
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Camurati-Engelmann Disease, Type 2
Elevated circulating alkaline phosphatase concentration OMIM:606631
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide lev... ORPHA:157215
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Hypocalcemia, Elevated hepatic transaminase, Unconjugated hyperbilirubi... OMIM:613658
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hepatic failure, Elevated hepatic tr... ORPHA:699
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration OMIM:241530
Reynolds Syndrome
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Elevated hepatic tra... OMIM:613471
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemic seizures OMIM:277440
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Gallbladder Disease 1
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice OMIM:600803
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Calvarial Doughnut Lesions With Bone Fragility
Elevated circulating alkaline phosphatase concentration OMIM:126550
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Abnormal enzyme/coenzyme activity, Hypocalcemia ORPHA:2785
Isolated Biliary Atresia
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated gamma... ORPHA:30391
Hypophosphatasia, Adult
Low alkaline phosphatase OMIM:146300
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating fatty-acid concentration, Abnormal cir... ORPHA:2298
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Caroli Disease
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... ORPHA:53035
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Elevated circulating alkaline phosphatase concentration, Hyperuricemia, Hyperp... OMIM:239000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Intermediate Osteopetrosis
Elevated circulating alkaline phosphatase concentration ORPHA:210110
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypocholesterolemia, Decreased prealbumin level, H... ORPHA:90363
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepatic... ORPHA:99826
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
Cystic Echinococcosis
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Elevated gamma-gluta... ORPHA:400
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase, Decreased serum zinc OMIM:201100
Aggressive Systemic Mastocytosis
Elevated total serum tryptase, Elevated circulating alkaline phosphatase concentration, Decreased... ORPHA:98850
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Mirizzi Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice,... ORPHA:521219
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypophosphatemia, Hypercalcemia OMIM:239200
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating alkaline phosphatase concentration OMIM:600785
Graft Versus Host Disease
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Chronic hepatitis, E... ORPHA:39812
Gitelman Syndrome
Hypocalcemia, Hypomagnesemia, Hypokalemia, Hypermagnesemia ORPHA:358
Cranioectodermal Dysplasia 1
Hypocalcemia, Hepatic failure OMIM:218330
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Lysosomal Acid Lipase Deficiency
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Hepatic failur... ORPHA:275761
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Elevated gamma-gluta... ORPHA:562639
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Caroli Syndrome
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Ele... ORPHA:480520
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hepatitis, Hypercalcemia, Hyperuricemia ORPHA:199299
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Elevated circulating alkaline phosphatase concentr... ORPHA:247691
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating alkaline phosphatase concentra... OMIM:619534
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Wild Type Attr Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:330001
Acute Adrenal Insufficiency
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:95409
Osteogenesis Imperfecta, Type Xi
Elevated circulating alkaline phosphatase concentration OMIM:610968
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Fibrous Dysplasia Of Bone
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypercalcemia ORPHA:249
Immunodeficiency 82 With Systemic Inflammation
Hepatitis, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia OMIM:619381
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Low alkaline phosphatase, Hypercalcemia ORPHA:369837
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia OMIM:270400
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Abnormality of alka... OMIM:137920
Thymic Aplasia
Hypocalcemic tetany, Atypical or prolonged hepatitis ORPHA:83471
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Mastocytosis
Hypercalcemia ORPHA:98292
Pheochromocytoma
Hypercalcemia OMIM:171300
Senior-Boichis Syndrome
Elevated hepatic transaminase, Increased total bilirubin, Elevated circulating alkaline phosphata... ORPHA:84081
Developmental And Epileptic Encephalopathy 80
Elevated circulating alkaline phosphatase concentration OMIM:618580
Hyperphosphatasia-Intellectual Disability Syndrome
Elevated circulating alkaline phosphatase concentration ORPHA:247262
Developmental And Epileptic Encephalopathy 95
Elevated circulating alkaline phosphatase concentration, Low alkaline phosphatase OMIM:618143
Lathosterolosis
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Elevated hepatic tra... OMIM:607330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Elevated circulating alkaline phosphatase concentration OMIM:239300
Craniometadiaphyseal Dysplasia
Elevated circulating alkaline phosphatase concentration OMIM:269300
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Vipoma
Hypokalemia, Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice ORPHA:97282
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Elevated circulating alkaline phosphatase concentration OMIM:614749
Ppoma
Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice ORPHA:97278
Hypophosphatemic Rickets
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypercalcemia ORPHA:437
Raine Syndrome
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration OMIM:259775
Addison Disease
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:85138
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Hypocalcemia, Portal hypertension OMIM:619503
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Elevated circulating alkaline phosphatase concentration OMIM:618268
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Elevated circulating alkaline phosphatase concentration, Jaundice OMIM:108050
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Eiken Syndrome
Elevated circulating alkaline phosphatase concentration OMIM:600002
Somatostatinoma
Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice ORPHA:97283
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Grfoma
Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice ORPHA:97261
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elevated circulating alkaline phosphatase concentration OMIM:618162
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Hypocalcemia, Hepatic failure OMIM:243800
Digeorge Syndrome
Hypocalcemia OMIM:188400
Glucagonoma
Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice ORPHA:97280
Primary Hepatic Neuroendocrine Carcinoma
Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice, Elevated gamma-glutamyltr... ORPHA:100085
Zollinger-Ellison Syndrome
Jaundice, Hypercalcemia ORPHA:913
X-Linked Hypophosphatemia
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration ORPHA:89936
Gorham-Stout Disease
Elevated alkaline phosphatase of bone origin ORPHA:73
Boudin-Mortier Syndrome
Elevated alkaline phosphatase of bone origin OMIM:619543
Charge Syndrome
Hypocalcemia OMIM:214800
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase ORPHA:785
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elevated circulating alkaline phosphatase concentration, Elevated hepatic iron concentration OMIM:300868
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Elevated circulating alkaline phosphatase concentration OMIM:618548
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice, Elevated gamma-glutamyltr... ORPHA:100086
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Portal hy... OMIM:620005
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating alkaline phosphatase concentration, Elevated circulating aspartate aminotran... OMIM:619525
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Renal hypophosphatemia, Elevated alkaline phosphatase of bone origin ORPHA:289176
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Sarcoidosis
Decreased liver function, Hypercalcemia, Portal hypertension, Hepatic failure ORPHA:797
Metaphyseal Dysplasia, Braun-Tinschert Type
Elevated alkaline phosphatase of bone origin ORPHA:85188
Williams Syndrome
Elevated circulating creatine kinase concentration, Hypercalcemia, Abnormal circulating lipid con... ORPHA:904
Pmm2-Cdg
Reduced thyroxin-binding globulin, Elevated hepatic transaminase, Hypoalbuminemia ORPHA:79318
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Williams-Beuren Syndrome
Hypercalcemia, Portal hypertension OMIM:194050
Sotos Syndrome
Hypercalcemia, Prolonged neonatal jaundice ORPHA:821
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Elevated alkaline phosphatase of bone origin ORPHA:51608
Hyperthyroxinemia, Familial Dysalbuminemic
OMIM:615999

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 Alb

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 Alb.

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

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MGI Allele Allele Type Produced
Albtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Albtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Albem1(IMPC)H Exon Deletion Mice

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