Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Alb MGI:87991

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Alb (3 diseases)
Human diseases predicted to be associated with Alb (396 diseases)

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

Disease	Matching phenotypes	Source
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Hyperthyroxinemia, Familial Dysalbuminemic		OMIM:615999

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

Disease	Matching phenotypes	Source
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	OMIM:619658
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Cholestasis, Progressive Familial Intrahepatic, 10	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau...	OMIM:619868
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Diarrhea 13	Elevated hepatic transaminase, Hypoalbuminemia	OMIM:620357
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Vitamin D-Dependent Rickets, Type 3	Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia	OMIM:619073
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Adamantinoma	Hypercalcemia	ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase	OMIM:242880
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:618528
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase	OMIM:254700
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hypocalcemia	ORPHA:172
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Neutrophilia, Hereditary	Elevated leukocyte alkaline phosphatase	OMIM:162830
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration, Increased total bilirubin	OMIM:174050
Refractory Celiac Disease	Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Hy...	ORPHA:398063
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Autosomal Dominant Hypophosphatemic Rickets	Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated ...	OMIM:619484
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration	OMIM:606263
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Cholestasis, Benign Recurrent Intrahepatic, 2	Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice, Conj...	OMIM:605479
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Jaundice, Hyperlipidemia, Elevated ...	OMIM:214900
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int...	OMIM:617093
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Jaundice, Hypoalbuminemia, Decreased LDL c...	ORPHA:79320
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Mpi-Cdg	Abnormal circulating enzyme concentration or activity, Hypoalbuminemia, Decreased liver function,...	ORPHA:79319
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ...	OMIM:235555
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated cir...	ORPHA:158061
Triokinase And Fmn Cyclase Deficiency Syndrome	Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia	OMIM:618805
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, ...	ORPHA:99845
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Hypophosphatasia, Childhood	Elevated plasma pyrophosphate, Low alkaline phosphatase	OMIM:241510
Intermediate Osteopetrosis	Elevated circulating alkaline phosphatase concentration, Hypocalcemia	ORPHA:210110
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia	OMIM:193100
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration	OMIM:615198
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Elevated circulating alanine amin...	OMIM:613070
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Alg1-Cdg	Hypoalbuminemia, Decreased liver function	ORPHA:79327
Epiphyseal Chondrodysplasia, Miura Type	Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline phosphatase of ...	OMIM:615923
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Elevated circ...	OMIM:619662
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615424
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated alkali...	OMIM:616828
Blue Diaper Syndrome	Elevated hepatic transaminase, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia	OMIM:600081
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	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
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Lymphoproliferative Syndrome, X-Linked, 1	Fulminant hepatitis, Hepatic failure, Hypoalbuminemia, Elevated circulating C-reactive protein co...	OMIM:308240
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Conjugated hyperbilirubinemia, Jaundice, Elevate...	OMIM:617156
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration	OMIM:239100
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypocalcemic seizures, Hyp...	OMIM:264700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Leishmaniasis	Elevated hepatic transaminase, Hypoalbuminemia	ORPHA:507
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529799
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Portal hypertension, Hypoalbuminemia, Decreased liver function, He...	ORPHA:367
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79303
Oncogenic Osteomalacia	Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia	ORPHA:352540
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Wolcott-Rallison Syndrome	Acute hepatic failure, Hyponatremia, Elevated hepatic transaminase, Jaundice, Hyperammonemia, Hyp...	ORPHA:1667
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	OMIM:259700
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulating creatinine c...	OMIM:613095
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615422
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia, Decreased liver function	OMIM:608104
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Increased circ...	ORPHA:26793
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin...	OMIM:603553
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Elevated creatine kinase after exercise, Abnormal lactate dehydrog...	ORPHA:284426
Osteopetrosis, Autosomal Recessive 9	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatinine concentr...	OMIM:620366
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Jaundice, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Hyponatremia, Elevated circulating creatine kinase concentration, ...	ORPHA:94093
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Elevated total serum tryptase, Increased ...	ORPHA:94059
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas...	OMIM:601847
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Immunodeficiency 27A	Hypoalbuminemia	OMIM:209950
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration	OMIM:616833
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Portal hypertension, Elevated circulating alpha-fetoprotein concen...	OMIM:251880
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin concentration...	ORPHA:540
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau...	ORPHA:186
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholes...	OMIM:278000
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
X-Linked Agammaglobulinemia	Hypocalcemia, Hepatitis	ORPHA:47
Congenital Disorder Of Glycosylation, Type Ib	Hepatic failure, Hypoalbuminemia	OMIM:602579
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice...	OMIM:613812
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Decreased liver function	OMIM:617021
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hypoalbum...	ORPHA:67
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:616809
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Decreas...	OMIM:618329
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:2070
Specific Granule Deficiency 1	Low neutrophil alkaline phosphatase	OMIM:245480
Familial Expansile Osteolysis	Elevated circulating alkaline phosphatase concentration	OMIM:174810
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration	OMIM:613312
Craniodiaphyseal Dysplasia, Autosomal Dominant	Elevated circulating alkaline phosphatase concentration	OMIM:122860
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Elevated circulating cr...	ORPHA:411634
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Timothy Syndrome	Hypocalcemia	OMIM:601005
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Congenital Enterovirus Infection	Hepatic failure, Hypoalbuminemia, Hepatitis, Hyperammonemia	ORPHA:292
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos...	ORPHA:263501
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase	OMIM:619985
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hypourice...	OMIM:616026
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration	OMIM:606893
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Hypoproteinemia, Hypocalcemia	OMIM:235255
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Hepatitis, Abnormal blood ion concentration, Hypoalbuminemia, Hypo...	ORPHA:37042
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration...	ORPHA:36234
Fanconi-Bickel Syndrome	Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:227810
Fanconi Renotubular Syndrome 1	Elevated circulating alkaline phosphatase concentration, Hypokalemia, Hypophosphatemia	OMIM:134600
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Portal hypertension, Conjugated hyperbilirubinemia, Abnormal circu...	ORPHA:567983
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypouricemia, Elevated ...	OMIM:277900
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Abnormality of alkaline phosphatase level	OMIM:619356
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f...	OMIM:613489
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Hypoproteinemia, Hypocalcemia	ORPHA:1655
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Chronic hepatic failure	ORPHA:746
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Hypocalcemia	OMIM:212750
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Al Amyloidosis	Elevated circulating alkaline phosphatase concentration, Increased circulating NT-proBNP concentr...	ORPHA:85443
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Paget Disease Of Bone 2, Early-Onset	Elevated circulating alkaline phosphatase concentration, Hypercalcemia	OMIM:602080
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hypoalbuminemia, Portal hypertension	OMIM:619487
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Abnormal circu...	OMIM:307800
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Paget Disease Of Bone 3	Elevated circulating alkaline phosphatase concentration	OMIM:167250
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Alg12-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hyponatremi...	ORPHA:79324
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Elevated alkaline phosphatase of bone origin, Elevated circulating creatine kinase concentration	OMIM:167320
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Hypophosphatasia, Infantile	Hypercalcemia, Elevated plasma pyrophosphate, Low alkaline phosphatase	OMIM:241500
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Hypoalbuminemia	OMIM:610965
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated cir...	ORPHA:2088
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Abnormal circu...	OMIM:241530
Hypophosphatasia	Hypercalcemia	ORPHA:436
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	ORPHA:52430
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc...	ORPHA:89842
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,...	ORPHA:69665
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hypoalbuminemia, Hypocholesterolemia	OMIM:212065
Metaphyseal Chondrodysplasia, Jansen Type	Elevated circulating alkaline phosphatase concentration, Hypercalcemia, Hypophosphatemia	OMIM:156400
Trichohepatoenteric Syndrome 1	Jaundice, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis, Hypermethionine...	OMIM:222470
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Decreased LDL cholesterol...	ORPHA:14
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hypophosphatemic rickets, Elevated circulating alkaline phosphatas...	ORPHA:263455
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ...	OMIM:614576
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Elevat...	ORPHA:157215
Xq12-Q13.3 Duplication Syndrome	Low alkaline phosphatase, Elevated circulating creatine kinase concentration	ORPHA:314389
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia	OMIM:617303
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase	OMIM:608232
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Camurati-Engelmann Disease, Type 2	Elevated circulating alkaline phosphatase concentration	OMIM:606631
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Primary Sclerosing Cholangitis	Acute hepatic failure, Elevated hepatic transaminase, Portal hypertension, Jaundice, Hepatitis, H...	ORPHA:171
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:615716
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Portal hypertension, Hypoalbuminemia, Hypocalcemia, Decreased live...	OMIM:613658
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Vitamin D-Dependent Rickets, Type 2A	Elevated circulating alkaline phosphatase concentration, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Gallbladder Disease 1	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration	OMIM:600803
Caroli Disease	Portal hypertension, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated ...	ORPHA:53035
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:529665
Pearson Syndrome	Elevated hepatic transaminase, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyper...	ORPHA:699
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Isolated Biliary Atresia	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Jaundice, Elevated circulating alka...	ORPHA:30391
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Calvarial Doughnut Lesions With Bone Fragility	Elevated circulating alkaline phosphatase concentration	OMIM:126550
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Hypophosphatasia, Adult	Low alkaline phosphatase	OMIM:146300
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Paget Disease Of Bone 5, Juvenile-Onset	Elevated circulating alkaline phosphatase concentration, Hyperphosphatemia, Hydroxyprolinemia, Hy...	OMIM:239000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased serum zinc, Low alkaline phosphatase	OMIM:201100
Graft Versus Host Disease	Elevated hepatic transaminase, Jaundice, Chronic hepatitis, Elevated circulating alkaline phospha...	ORPHA:39812
Cystic Echinococcosis	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,...	ORPHA:400
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc...	ORPHA:90363
Aggressive Systemic Mastocytosis	Elevated total serum tryptase, Elevated circulating alkaline phosphatase concentration, Decreased...	ORPHA:98850
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Hypocalcemia, Elevated circulating creatin...	ORPHA:2785
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Mirizzi Syndrome	Elevated hepatic transaminase, Jaundice, Hyperbilirubinemia, Elevated circulating alkaline phosph...	ORPHA:521219
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Elevated circulating alkaline phosphatase concentration	OMIM:600785
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig...	ORPHA:2298
Liver Disease, Severe Congenital	Elevated hepatic transaminase, Hyponatremia, Elevated circulating alpha-fetoprotein concentration...	OMIM:619991
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperamylasemi...	ORPHA:99826
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia	ORPHA:505248
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Hepatitis, Hyperuricemia	ORPHA:199299
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Cranioectodermal Dysplasia 1	Hepatic failure, Hypocalcemia	OMIM:218330
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia	ORPHA:79396
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated circulat...	ORPHA:100085
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Interface...	ORPHA:562639
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau...	OMIM:614866
Fibrodysplasia Ossificans Progressiva	Elevated circulating alkaline phosphatase concentration	OMIM:135100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatinine concentr...	ORPHA:247691
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Caroli Syndrome	Elevated hepatic transaminase, Portal hypertension, Conjugated hyperbilirubinemia, Intrahepatic c...	ORPHA:480520
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Elevated alkaline phosphatase of bone origin, Rena...	ORPHA:289176
Reynolds Syndrome	Elevated hepatic transaminase, Calcinosis, Jaundice, Elevated circulating alkaline phosphatase co...	OMIM:613471
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Wild Type Attr Amyloidosis	Elevated circulating alkaline phosphatase concentration	ORPHA:330001
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
22Q11.2 Deletion Syndrome	Hypocalcemia	ORPHA:567
Fibrous Dysplasia Of Bone	Elevated circulating alkaline phosphatase concentration, Hypercalcemia, Hypophosphatemia	ORPHA:249
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Conjugated hy...	OMIM:619534
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Hepatitis, Elevated circulating C-reactive protein concentration	OMIM:619381
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Osteogenesis Imperfecta, Type Xi	Elevated circulating alkaline phosphatase concentration	OMIM:610968
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Atypical or prolonged hepatitis	ORPHA:83471
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Hypertriglyceridemia, Low alkaline phosphatase	ORPHA:369837
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Renal Cysts And Diabetes Syndrome	Abnormality of alkaline phosphatase level, Elevated circulating creatinine concentration, Hyperur...	OMIM:137920
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia	OMIM:270400
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Lathosterolosis	Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas...	OMIM:607330
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
Senior-Boichis Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Portal hy...	ORPHA:84081
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Developmental And Epileptic Encephalopathy 80	Elevated circulating alkaline phosphatase concentration	OMIM:618580
Developmental And Epileptic Encephalopathy 95	Elevated circulating alkaline phosphatase concentration, Low alkaline phosphatase	OMIM:618143
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Pheochromocytoma	Hypercalcemia	OMIM:171300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Elevated circulating alkaline phosphatase concentration	OMIM:239300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Hyperphosphatasia-Intellectual Disability Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:247262
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Elevated circulating alkaline phosphatase concentration	OMIM:614749
Johanson-Blizzard Syndrome	Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Increased VLD...	OMIM:243800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Portal hypertension, Hypomagnesemia	OMIM:619503
Craniometadiaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration	OMIM:269300
Trichohepatoneurodevelopmental Syndrome	Elevated circulating alkaline phosphatase concentration, Decreased liver function, Increased seru...	OMIM:618268
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Elevated circulating alkaline phosphatase concentration	OMIM:614207
Raine Syndrome	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia	OMIM:259775
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Ppoma	Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice	ORPHA:97278
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Eiken Syndrome	Elevated circulating alkaline phosphatase concentration	OMIM:600002
Vipoma	Intrahepatic cholestasis, Hypokalemia, Hypercalcemia, Intermittent jaundice	ORPHA:97282
Boudin-Mortier Syndrome	Elevated alkaline phosphatase of bone origin	OMIM:619543
Gorham-Stout Disease	Elevated alkaline phosphatase of bone origin	ORPHA:73
Somatostatinoma	Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice	ORPHA:97283
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Elevated circulating alkaline phosphatase concen...	OMIM:124000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Hyperparathyroidism, Transient Neonatal	Elevated circulating alkaline phosphatase concentration	OMIM:618188
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Grfoma	Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice	ORPHA:97261
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elevated circulating alkaline phosphatase concentration	OMIM:618162
X-Linked Hypophosphatemia	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia	ORPHA:89936
Glucagonoma	Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice	ORPHA:97280
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:618548
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elevated circulating alkaline phosphatase concentration, Elevated hepatic iron concentration	OMIM:300868
Estrogen Resistance Syndrome	Elevated tissue non-specific alkaline phosphatase	ORPHA:785
Charge Syndrome	Hypocalcemia	OMIM:214800
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Zollinger-Ellison Syndrome	Jaundice, Hypercalcemia	ORPHA:913
Gallbladder Neuroendocrine Tumor	Elevated alkaline phosphatase of hepatic origin, Elevated gamma-glutamyltransferase level, Interm...	ORPHA:100086
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Elevated circulating alkaline phosphatase concentration, Elevated circulating alanine aminotransf...	OMIM:280000
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Portal hy...	OMIM:620005
Estrogen Resistance	Elevated alkaline phosphatase of bone origin	OMIM:615363
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:619525
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Metaphyseal Dysplasia, Braun-Tinschert Type	Elevated alkaline phosphatase of bone origin	ORPHA:85188
Sarcoidosis	Hypercalcemia, Hepatic failure, Decreased liver function, Portal hypertension	ORPHA:797
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Williams Syndrome	Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con...	ORPHA:904
Pmm2-Cdg	Elevated hepatic transaminase, Reduced thyroxin-binding globulin, Hypoalbuminemia	ORPHA:79318
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Williams-Beuren Syndrome	Hypercalcemia, Portal hypertension	OMIM:194050
Spondyloepimetaphyseal Dysplasia, X-Linked	Abnormality of alkaline phosphatase level	OMIM:300106
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.

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
Alb^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Alb^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Alb^em1(IMPC)H	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us