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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 (410 diseases)

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

Disease	Matching phenotypes	Source
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating gamma-aminobutyric acid concentration, Elevated circulating aspartate aminot...	OMIM:619658
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Increased total bilirubin, Elevated ci...	OMIM:619868
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration	OMIM:620357
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Glycosylphosphatidylinositol Biosynthesis Defect 16	Elevated circulating alkaline phosphatase concentration	OMIM:617816
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Increased circulating creatine kinase MM isoform, Elevated c...	OMIM:613752
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration	OMIM:619073
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Adamantinoma	Hypercalcemia	ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase	OMIM:242880
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hypocalcemia	ORPHA:172
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Increased total bilirubin, Elevated circulating aspartate aminotransferase conce...	OMIM:618528
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Neutrophilia, Hereditary	Elevated leukocyte alkaline phosphatase	OMIM:162830
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase	OMIM:254700
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Refractory Celiac Disease	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Elevate...	ORPHA:398063
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration	ORPHA:89937
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration	OMIM:606263
Chylomicron Retention Disease	Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia	OMIM:246700
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:619484
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevated circulating alk...	OMIM:214900
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Decreased li...	OMIM:617093
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Jaundice, Conjugated hyperbilirubinemia, Elevated circulating alkaline ...	OMIM:605479
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration, Increased total bilirubin	OMIM:174050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Abnormality of alkaline phosphatase level, Elevated circulating aspartate aminotransferase concen...	OMIM:620375
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Low alkaline phosphatase, Elevated circulating alkaline phosphatase concentration	OMIM:618879
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:242150
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Alg6-Cdg	Hypoalbuminemia, Jaundice, Decreased LDL cholesterol concentration, Abnormal circulating enzyme c...	ORPHA:79320
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Immunodeficiency 115 With Autoinflammation	Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce...	OMIM:620632
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
Mpi-Cdg	Hypoalbuminemia, Abnormal circulating enzyme concentration or activity, Portal hypertension, Decr...	ORPHA:79319
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Increased LDL cholesterol concentration, Hyperbilirubin...	ORPHA:247598
Genetic Recurrent Myoglobinuria	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:99845
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Elevated circulating alanine aminotransferase concentration	OMIM:618805
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ...	ORPHA:158061
Hypophosphatasia, Childhood	Elevated plasma pyrophosphate, Low alkaline phosphatase	OMIM:241510
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Decreased...	OMIM:605814
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration	OMIM:193100
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypertriglyceridemia	OMIM:619013
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration	OMIM:615198
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Alg1-Cdg	Hypoalbuminemia, Decreased liver function	ORPHA:79327
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemi...	ORPHA:79302
Epiphyseal Chondrodysplasia, Miura Type	Elevated alkaline phosphatase of bone origin, Abnormal circulating beta-C-terminal telopeptide co...	OMIM:615923
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:36913
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
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hyponatre...	ORPHA:247353
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration	OMIM:600081
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia	ORPHA:94086
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent...	OMIM:619662
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Autoinflammation With Infantile Enterocolitis	Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati...	OMIM:616050
Congenital Disorder Of Glycosylation, Type Iio	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased LDL cholester...	OMIM:616828
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:329475
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia	OMIM:241600
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase ...	OMIM:264700
Lymphoproliferative Syndrome, X-Linked, 1	Elevated circulating C-reactive protein concentration, Hepatic failure, Fulminant hepatitis, Hypo...	OMIM:308240
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration	ORPHA:507
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice	ORPHA:529799
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94089
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea...	ORPHA:367
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration	ORPHA:352540
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Abn...	ORPHA:88618
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Wolcott-Rallison Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	ORPHA:1667
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Elevated...	OMIM:613095
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Decreased liver function	OMIM:608104
Avian Influenza	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:454836
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration	OMIM:239100
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Hypocalcemia, Elevated circulating alk...	OMIM:259700
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
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
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:603553
Citrullinemia Type Ii	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased HDL cholester...	ORPHA:247585
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Neuroleptic Malignant Syndrome	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased circulating...	ORPHA:94093
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Abnormal circulating lactate dehydrogenase concentration, Elevated circulating hepatic transamina...	ORPHA:284426
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Hepatoportal Sclerosis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Por...	ORPHA:64743
Immunodeficiency 27A	Hypoalbuminemia	OMIM:209950
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia, Elevated circulating alkaline phosph...	OMIM:620366
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Elevated total serum tryptase, Increased blood urea nitr...	ORPHA:94059
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalc...	ORPHA:289157
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Osteosarcoma	Abnormal circulating lactate dehydrogenase concentration, Increased circulating lactate dehydroge...	ORPHA:668
X-Linked Agammaglobulinemia	Hepatitis, Hypocalcemia	ORPHA:47
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Elevated circulating al...	ORPHA:67
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic failure	OMIM:602579
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosphatas...	OMIM:601847
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration	OMIM:616833
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:616809
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Decreased liver function	OMIM:617021
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	ORPHA:2070
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyperb...	OMIM:251880
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Cholesteryl Ester Storage Disease	Elevated gamma-glutamyltransferase level, Hepatic failure, Reduced lysosomal acid lipase activity...	OMIM:278000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Glycosylphosphatidylinositol Biosynthesis Defect 17	Abnormality of alkaline phosphatase level, Hypertriglyceridemia	OMIM:618010
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Bile Acid Synthesis Defect, Congenital, 3	Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransfe...	OMIM:613812
Timothy Syndrome	Hypocalcemia	OMIM:601005
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Juvenile Nephropathic Cystinosis	Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H...	ORPHA:411634
Familial Expansile Osteolysis	Elevated circulating alkaline phosphatase concentration	OMIM:174810
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia	OMIM:608776
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
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
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Hepatitis, Hyperammonemia	ORPHA:292
Primary Biliary Cholangitis	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatitis, Abnormal c...	ORPHA:186
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypomagnesem...	ORPHA:37042
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Elevated circulating alkaline phosphatase concentration, Hyperphosphatemia, Calcin...	OMIM:211900
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Hypoproteinemia, Hypocalcemia	OMIM:235255
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase	OMIM:619985
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Reni Syndrome	Hypoalbuminemia, Hypertriglyceridemia	OMIM:617575
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hypercholesterolemia, Elevated circulati...	ORPHA:263501
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Hypocalcemia, Elevated...	ORPHA:36234
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Elevated...	OMIM:616026
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration	OMIM:606893
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circul...	OMIM:227810
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration	OMIM:134600
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Hypoproteinemia, Hypocalcemia	ORPHA:1655
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Elevated circulating al...	OMIM:613489
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Abnormality of alkaline phosphatase level	OMIM:619356
Mitochondrial Trifunctional Protein Deficiency	Chronic hepatic failure, Hypocalcemia	ORPHA:746
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:567983
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Al Amyloidosis	Hypoalbuminemia, Increased circulating NT-proBNP concentration, Elevated circulating alkaline pho...	ORPHA:85443
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia	OMIM:615508
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Hypocalcemia	OMIM:212750
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia	OMIM:127000
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Elevated circulating alkaline phosphatase concentration	OMIM:602080
Alg12-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Ab...	ORPHA:79324
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Portal hypertension	OMIM:619487
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elevated circulating...	ORPHA:69665
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Xfe Progeroid Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration	OMIM:610965
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Low alkaline phosphatase, Hypercalcemia	OMIM:241500
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79444
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Paget Disease Of Bone 3	Elevated circulating alkaline phosphatase concentration	OMIM:167250
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Hepatic failure, J...	OMIM:222470
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
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
Hypophosphatasia	Hypercalcemia	ORPHA:436
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Elevated ...	OMIM:241530
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hepatic failure, Acute hepatic failure, Elevated circulating aspar...	OMIM:277900
Lathosterolosis	Elevated gamma-glutamyltransferase level, Elevated circulating lathosterol concentration, Intrahe...	OMIM:607330
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Osteogenesis Imperfecta, Type Vi	Elevated circulating deoxypyridinoline concentration, Elevated circulating alkaline phosphatase c...	OMIM:613982
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hypocholesterolemia, Elevated circulating hepatic transaminase concentration	OMIM:212065
Fanconi-Bickel Syndrome	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	ORPHA:2088
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Hyperbilirubinemia, Hypocalcemia	OMIM:259720
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis	OMIM:617913
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	ORPHA:52430
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:14
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia, Elevated circulating alkaline phosphatase concentration	OMIM:156400
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia	OMIM:617303
Primary Sclerosing Cholangitis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepati...	ORPHA:171
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Elevated ...	OMIM:307800
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:613658
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem...	ORPHA:157215
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Elevated circu...	ORPHA:263455
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:614576
Xq12-Q13.3 Duplication Syndrome	Low alkaline phosphatase, Elevated circulating creatine kinase concentration	ORPHA:314389
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase	OMIM:608232
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Decreased liver function, Hypocalcemia, Elevated circulating ...	ORPHA:466650
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, E...	OMIM:620454
Camurati-Engelmann Disease, Type 2	Elevated circulating alkaline phosphatase concentration	OMIM:606631
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79443
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:615716
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration	OMIM:277440
Trichorhinophalangeal Syndrome, Type I	Abnormal blood phosphate concentration, Abnormal circulating calcium concentration, Abnormality o...	OMIM:190350
Tafro Syndrome	Elevated circulating C-reactive protein concentration, Increased circulating lactate dehydrogenas...	ORPHA:457077
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Pearson Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Hypocal...	ORPHA:699
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ...	OMIM:600803
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:30391
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Calvarial Doughnut Lesions With Bone Fragility	Elevated circulating alkaline phosphatase concentration	OMIM:126550
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Hypophosphatasia, Adult	Low alkaline phosphatase	OMIM:146300
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Intermediate Osteopetrosis	Elevated circulating alkaline phosphatase concentration	ORPHA:210110
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci...	ORPHA:90363
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Low alkaline phosphatase, Decreased serum zinc	OMIM:201100
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Elevated circulating alkaline phosphatase concentration, Hyperphosphatemia, Hy...	OMIM:239000
Caroli Disease	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Portal hypertension, Elevated...	ORPHA:53035
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypocalcemia	ORPHA:2237
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Cystic Echinococcosis	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:400
Aggressive Systemic Mastocytosis	Portal hypertension, Decreased liver function, Elevated total serum tryptase, Elevated circulatin...	ORPHA:98850
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Abnormal cir...	ORPHA:2298
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elevated circulating...	ORPHA:39812
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Hypocalcemia, Elevated circulating creatin...	ORPHA:2785
Liver Disease, Severe Congenital	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:619991
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Elevated circulating cr...	ORPHA:99826
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Elevated circulating alkaline phosphatase concentration	OMIM:600785
Mirizzi Syndrome	Jaundice, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Elevated c...	ORPHA:521219
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia	ORPHA:163979
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia	ORPHA:505248
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hypercalcemia, Calcinosis	OMIM:239200
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Cranioectodermal Dysplasia 1	Hepatic failure, Hypocalcemia	OMIM:218330
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia	ORPHA:79396
Lysosomal Acid Lipase Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	ORPHA:275761
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hepatitis, Hyperuricemia	ORPHA:199299
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Kawasaki Disease	Elevated circulating C-reactive protein concentration, Jaundice, Hepatitis, Hypoalbuminemia	ORPHA:2331
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration, Elevated circulating alkaline phosphatase concentr...	ORPHA:247691
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:614866
Fibrodysplasia Ossificans Progressiva	Elevated circulating alkaline phosphatase concentration	OMIM:135100
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:562639
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elevated circulating...	OMIM:613471
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Autosomal Recessive Malignant Osteopetrosis	Hypophosphatemia, Hypocalcemia	ORPHA:667
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Specific Granule Deficiency 1	Low neutrophil alkaline phosphatase	OMIM:245480
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Hepatitis, Hypernatremia, Hypoalbuminemia	OMIM:619381
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Hyperalaninemia, Elevated circulating alkaline phosphatase concentration	OMIM:620451
22Q11.2 Deletion Syndrome	Hypocalcemia	ORPHA:567
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia, Elevated circulating alkaline phosphatase concentration	ORPHA:249
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Increased circulating ferritin concent...	OMIM:619534
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Atypical or prolonged hepatitis	ORPHA:83471
Acute Adrenal Insufficiency	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:95409
Wild Type Attr Amyloidosis	Elevated circulating alkaline phosphatase concentration	ORPHA:330001
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Osteogenesis Imperfecta, Type Xi	Elevated circulating alkaline phosphatase concentration	OMIM:610968
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low alkaline phosphatase, Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration	OMIM:270400
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Pheochromocytoma	Hypercalcemia	OMIM:171300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H...	OMIM:601678
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Portal hypertension, Hypocalcemia, Hypomagnesemia	OMIM:619503
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr...	OMIM:137920
Senior-Boichis Syndrome	Elevated circulating hepatic transaminase concentration, Portal hypertension, Elevated circulatin...	ORPHA:84081
Developmental And Epileptic Encephalopathy 80	Elevated circulating alkaline phosphatase concentration	OMIM:618580
Developmental And Epileptic Encephalopathy 95	Low alkaline phosphatase, Elevated circulating alkaline phosphatase concentration	OMIM:618143
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Elevated circulating alkaline phosphatase concentration	OMIM:239300
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic failure, Elevated cir...	OMIM:243800
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
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Elevated circulating alkaline phosphatase concentration	OMIM:618590
Raine Syndrome	Hypophosphatemia, Elevated circulating alkaline phosphatase concentration	OMIM:259775
Craniometadiaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration	OMIM:269300
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased seru...	OMIM:618268
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Elevated circulating alkaline phosphatase concentration	OMIM:614207
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Vipoma	Hypokalemia, Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice	ORPHA:97282
Addison Disease	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:85138
Ppoma	Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice	ORPHA:97278
Eiken Syndrome	Elevated circulating alkaline phosphatase concentration	OMIM:600002
Boudin-Mortier Syndrome	Elevated alkaline phosphatase of bone origin	OMIM:619543
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Gorham-Stout Disease	Elevated alkaline phosphatase of bone origin	ORPHA:73
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Somatostatinoma	Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice	ORPHA:97283
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:124000
Grfoma	Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice	ORPHA:97261
Hyperparathyroidism, Transient Neonatal	Elevated circulating alkaline phosphatase concentration	OMIM:618188
Estrogen Resistance Syndrome	Elevated tissue non-specific alkaline phosphatase	ORPHA:785
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elevated circulating alkaline phosphatase concentration	OMIM:618162
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:618548
Glucagonoma	Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice	ORPHA:97280
X-Linked Hypophosphatemia	Hypophosphatemia, Elevated circulating alkaline phosphatase concentration	ORPHA:89936
Charge Syndrome	Hypocalcemia	OMIM:214800
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Zollinger-Ellison Syndrome	Jaundice, Hypercalcemia	ORPHA:913
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elevated circulating alkaline phosphatase concentration, Elevated hepatic iron concentration	OMIM:300868
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:280000
Gallbladder Neuroendocrine Tumor	Elevated gamma-glutamyltransferase level, Elevated alkaline phosphatase of hepatic origin, Interm...	ORPHA:100086
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:619525
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Portal hypertension, Elevated circulatin...	OMIM:620005
Estrogen Resistance	Elevated alkaline phosphatase of bone origin	OMIM:615363
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets, Elevated alkaline phosphatase of bone origin	ORPHA:289176
Metaphyseal Dysplasia, Braun-Tinschert Type	Elevated alkaline phosphatase of bone origin	ORPHA:85188
Sarcoidosis	Portal hypertension, Hepatic failure, Hypercalcemia, Decreased liver function	ORPHA:797
Williams Syndrome	Hypercalcemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase con...	ORPHA:904
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Pmm2-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Reduced thyroxin-bindin...	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	Prolonged neonatal jaundice, Hypercalcemia	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

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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

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