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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 (392 diseases)

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

Disease	Matching phenotypes	Source
Analbuminemia	Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen...	OMIM:616000
Congenital Analbuminemia	Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia	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 alanine aminotransferase concentration, Jaundice, Elevated circulating gamma...	OMIM:619658
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,...	OMIM:619868
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Elevated circul...	OMIM:616829
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Elevated circula...	OMIM:613752
Vitamin D-Dependent Rickets, Type 3	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia	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, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
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
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Analbuminemia	Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen...	OMIM:616000
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase	OMIM:254700
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hypocalcemia	ORPHA:172
Chylomicron Retention Disease	Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia	OMIM:246700
Neutrophilia, Hereditary	Elevated leukocyte alkaline phosphatase	OMIM:162830
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy...	ORPHA:103910
Autosomal Dominant Hypophosphatemic Rickets	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia	ORPHA:89937
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia	ORPHA:94090
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration, Increased total bilirubin	OMIM:174050
Refractory Celiac Disease	Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Elevated hepatic transaminase, Hy...	ORPHA:398063
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration	OMIM:606263
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas...	OMIM:619484
Cholestasis-Lymphedema Syndrome	Jaundice, Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration,...	OMIM:214900
Cholestasis, Benign Recurrent Intrahepatic, 2	Elevated circulating alkaline phosphatase concentration, Jaundice, Conjugated hyperbilirubinemia,...	OMIM:605479
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra...	ORPHA:247598
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Decreased circu...	OMIM:242150
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Abnormal circulating enzyme concentration or a...	ORPHA:79320
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:612526
Mpi-Cdg	Decreased liver function, Portal hypertension, Abnormal circulating enzyme concentration or activ...	ORPHA:79319
Macrophage Activation Syndrome	Elevated circulating alanine aminotransferase concentration, Increased circulating lactate dehydr...	ORPHA:158061
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Hyperthreoninemia, H...	OMIM:605814
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Highly elevated creatine kinase, Elevated circulating aldolase concentration, ...	ORPHA:99845
Bile Acid Synthesis Defect, Congenital, 2	Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Intrahepatic choles...	OMIM:235555
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Triokinase And Fmn Cyclase Deficiency Syndrome	Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia	OMIM:618805
Intermediate Osteopetrosis	Elevated circulating alkaline phosphatase concentration, Hypocalcemia	ORPHA:210110
Hypophosphatasia, Childhood	Elevated plasma pyrophosphate, Low alkaline phosphatase	OMIM:241510
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Hypophosphatemic Rickets, Autosomal Dominant	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Hyperbili...	ORPHA:79302
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration	OMIM:615198
Liver Failure, Infantile, Transient	Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat...	OMIM:613070
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia	OMIM:619013
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Alg1-Cdg	Decreased liver function, Hypoalbuminemia	ORPHA:79327
Hyperostosis Frontalis Interna	Elevated circulating alkaline phosphatase concentration	OMIM:144800
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar...	OMIM:619662
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia	OMIM:616267
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
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
Epiphyseal Chondrodysplasia, Miura Type	Elevated alkaline phosphatase of bone origin, Abnormal circulating beta-C-terminal telopeptide co...	OMIM:615923
Congenital Disorder Of Glycosylation, Type Iio	Elevated alkaline phosphatase of bone origin, Hepatic failure, Decreased circulating ceruloplasmi...	OMIM:616828
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:36913
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Increased VLDL cholesterol concentration, Jaundice, Increased LDL chol...	OMIM:267700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia	OMIM:600081
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Blue Diaper Syndrome	Hyperphosphatemia, Elevated hepatic transaminase, Hypercalcemia	ORPHA:94086
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:616050
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Low alkaline phosphatase	OMIM:618879
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia	OMIM:241600
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:329475
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase,...	OMIM:617156
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration	OMIM:239100
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia, Hypocalc...	OMIM:264700
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Leishmaniasis	Elevated hepatic transaminase, Hypoalbuminemia	ORPHA:507
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529799
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated hepatic transaminase, Decreased liver function, Portal hypertension, Hy...	ORPHA:367
S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Hyperhomocystinemia, Elevated hepatic transaminase, Elevated circulating crea...	ORPHA:88618
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,...	ORPHA:79303
Wolcott-Rallison Syndrome	Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hyperammonemia, Hyponatremia, Acute ...	ORPHA:1667
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev...	ORPHA:64753
Timothy Syndrome	Hypocalcemia	OMIM:601005
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Hypocalcemia, Elevated circulating alk...	OMIM:259700
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Jaundice, Elevated circulating alpha-fetoprotein concentration, Elevated gamma-gluta...	OMIM:613095
Oncogenic Osteomalacia	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia	ORPHA:352540
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia	OMIM:612462
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Increased circulating ferriti...	OMIM:603553
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Citrullinemia Type Ii	Elevated hepatic transaminase, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol c...	ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
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
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Elevated circulating alkaline phosphatase concentration, Hyperphosphatemia	OMIM:614207
Primary Intestinal Lymphangiectasia	Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia	ORPHA:90362
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Jaundice, Elevated hepatic transaminase, Elevated ci...	ORPHA:26793
Congenital Analbuminemia	Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia	ORPHA:86816
Hepatoportal Sclerosis	Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Portal hypertension, Hypoalbuminemia	ORPHA:64743
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Abnormal lactate dehydrogenase level, Elevated hepatic transaminase, Hypercalcemia, Elevated crea...	ORPHA:284426
Avian Influenza	Hepatitis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Ele...	ORPHA:454836
Immunodeficiency 27A	Hypoalbuminemia	OMIM:209950
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Elevated hepatic transaminase, Hyperkalemia, Elevated circulati...	ORPHA:94093
Osteosarcoma	Elevated circulating alkaline phosphatase concentration, Abnormal lactate dehydrogenase level, In...	ORPHA:668
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circulatin...	OMIM:251880
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Uremic Pruritus	Elevated total serum tryptase, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Ren...	ORPHA:94059
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration	OMIM:616833
Primary Biliary Cholangitis	Hepatic failure, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Elevated circulat...	ORPHA:186
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:289157
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Familial Hemophagocytic Lymphohistiocytosis	Jaundice, Elevated hepatic transaminase, Increased circulating ferritin concentration, Decreased ...	ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Elevated circulating alkaline phosphatase concentration, Conjugated hyperb...	OMIM:601847
Congenital Disorder Of Glycosylation, Type Ib	Hepatic failure, Hypoalbuminemia	OMIM:602579
Amoebiasis Due To Entamoeba Histolytica	Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase, Hypoalbum...	ORPHA:67
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Low alkaline phosphatase, Elevated circulating alanine aminotransferase con...	OMIM:278000
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol...	ORPHA:567548
X-Linked Agammaglobulinemia	Hepatitis, Hypocalcemia	ORPHA:47
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatitis, Jaundice...	OMIM:613812
Colchicine Poisoning	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo...	ORPHA:31824
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Decreas...	OMIM:618329
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	ORPHA:2070
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:616809
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Familial Expansile Osteolysis	Elevated circulating alkaline phosphatase concentration	OMIM:174810
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Specific Granule Deficiency 1	Low neutrophil alkaline phosphatase	OMIM:245480
Hypophosphatemic Rickets, Autosomal Recessive, 2	Elevated circulating alkaline phosphatase concentration, Hypophosphatemic rickets	OMIM:613312
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Craniodiaphyseal Dysplasia, Autosomal Dominant	Elevated circulating alkaline phosphatase concentration	OMIM:122860
Juvenile Nephropathic Cystinosis	Elevated alkaline phosphatase of bone origin, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia,...	ORPHA:411634
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Congenital Enterovirus Infection	Hepatitis, Hepatic failure, Hyperammonemia, Hypoalbuminemia	ORPHA:292
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia	ORPHA:94089
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase	OMIM:619985
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
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
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Elevated hepatic trans...	OMIM:616026
Bacterial Toxic-Shock Syndrome	Hepatitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co...	ORPHA:36234
Cog4-Cdg	Elevated circulating alkaline phosphatase concentration, Fatal liver failure in infancy, Elevated...	ORPHA:263501
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Hepatitis, Elevated hepatic transaminase, Abnormal blood ion concentr...	ORPHA:37042
Fanconi Renotubular Syndrome 1	Elevated circulating alkaline phosphatase concentration, Hypokalemia, Hypophosphatemia	OMIM:134600
Fanconi-Bickel Syndrome	Elevated circulating alkaline phosphatase concentration, Hypokalemia, Hypophosphatemia, Hypouricemia	OMIM:227810
Congenital Disorder Of Glycosylation, Type Iij	Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated hepatic transa...	OMIM:613489
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	OMIM:618440
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Cholera	Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia	ORPHA:173
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Parenteral Nutrition-Associated Cholestasis	Hepatic failure, Jaundice, Elevated hepatic transaminase, Abnormal circulating fatty-acid concent...	ORPHA:567983
Wilson Disease	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Decreased...	OMIM:277900
Leigh Syndrome With Nephrotic Syndrome	Hypoalbuminemia	ORPHA:255249
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Abnormality of alkaline phosphatase level	OMIM:619356
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
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
Hepatocellular Carcinoma	Jaundice, Hypokalemia, Elevated hepatic transaminase, Hyperbilirubinemia, Hypercalcemia, Hyponatr...	ORPHA:88673
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Al Amyloidosis	Elevated circulating alkaline phosphatase concentration, Hypoalbuminemia, Increased circulating N...	ORPHA:85443
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia	OMIM:145980
Paget Disease Of Bone 2, Early-Onset	Elevated circulating alkaline phosphatase concentration, Hypercalcemia	OMIM:602080
Aicardi-Goutieres Syndrome 9	Portal hypertension, Elevated hepatic transaminase, Hypoalbuminemia	OMIM:619487
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Elevated hepatic transaminase	OMIM:212750
Hypophosphatemic Rickets, X-Linked Dominant	Elevated circulating alkaline phosphatase concentration, Abnormal circulating calcium concentrati...	OMIM:307800
Alg12-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hyponatremi...	ORPHA:79324
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Pseudohypoparathyroidism Type 1C	Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia	ORPHA:79444
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Hypoalbuminemia	OMIM:610965
Paget Disease Of Bone 3	Elevated circulating alkaline phosphatase concentration	OMIM:167250
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia	OMIM:127000
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Low alkaline phosphatase, Hypercalcemia	OMIM:241500
Fanconi-Bickel Syndrome	Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hypophosphatemia, E...	ORPHA:2088
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Elevated circulating alkaline phosphatase concentration, Abnormal circulating calcium concentrati...	OMIM:241530
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
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Hypophosphatasia	Hypercalcemia	ORPHA:436
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Hypermagnesemia	OMIM:145981
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Abnormal circulating protein concentration	ORPHA:86839
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	ORPHA:52430
Congenital Disorder Of Glycosylation, Type Ia	Hypocholesterolemia, Elevated hepatic transaminase, Hypoalbuminemia	OMIM:212065
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased plasma carnitine, Decreased serum iron, Abnormal circulating selenium concentration, De...	ORPHA:89842
Visceral Steatosis, Congenital	Jaundice, Hypocalcemia	OMIM:228100
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hypomagnesemia, Hyperphosphatemia	ORPHA:428
Abetalipoproteinemia	Decreased LDL cholesterol concentration, Hyperbilirubinemia, Elevated hepatic transaminase, Abnor...	ORPHA:14
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Metaphyseal Chondrodysplasia, Jansen Type	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypercalcemia	OMIM:156400
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Hepatic failure, Abnormality of iron homeostasis, Jaundice, Increased serum i...	OMIM:222470
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypocalcemia, Hypokalemia, Hyponatremia	OMIM:617913
Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating alkaline phosphatase concentration, Hypophosphatemic rickets, Elevated hepat...	ORPHA:263455
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia	OMIM:617303
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration...	OMIM:614576
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Hypophosphatemic rickets, Increas...	ORPHA:157215
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Intrahepatic Cholestasis Of Pregnancy	Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circulating alkaline phosph...	ORPHA:69665
Camurati-Engelmann Disease, Type 2	Elevated circulating alkaline phosphatase concentration	OMIM:606631
Xq12-Q13.3 Duplication Syndrome	Low alkaline phosphatase, Elevated circulating creatine kinase concentration	ORPHA:314389
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase	OMIM:608232
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Rajab Interstitial Lung Disease With Brain Calcifications 1	Unconjugated hyperbilirubinemia, Elevated hepatic transaminase, Portal hypertension, Decreased li...	OMIM:613658
Pseudohypoparathyroidism Type 1A	Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia	ORPHA:79443
Primary Sclerosing Cholangitis	Elevated alkaline phosphatase of hepatic origin, Hepatitis, Jaundice, Elevated hepatic transamina...	ORPHA:171
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentrat...	ORPHA:466650
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Vitamin D-Dependent Rickets, Type 2A	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemic seizures	OMIM:277440
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:615716
Gallbladder Disease 1	Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated hepatic transaminase	OMIM:600803
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Caroli Disease	Elevated circulating alanine aminotransferase concentration, Jaundice, Intrahepatic cholestasis, ...	ORPHA:53035
Pearson Syndrome	Hepatic failure, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Elevated hepatic transaminase, H...	ORPHA:699
Isolated Biliary Atresia	Jaundice, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Elevated circu...	ORPHA:30391
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:529665
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Calvarial Doughnut Lesions With Bone Fragility	Elevated circulating alkaline phosphatase concentration	OMIM:126550
Hypophosphatasia, Adult	Low alkaline phosphatase	OMIM:146300
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
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, Hydroxyprolinemia, Hyperuricemia, Hyperp...	OMIM:239000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Cystic Echinococcosis	Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase l...	ORPHA:400
Secondary Intestinal Lymphangiectasia	Hypocholesterolemia, Decreased prealbumin level, Reduced circulating transferrin concentration, H...	ORPHA:90363
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypercalcemia, Hypermagnesemia	OMIM:600740
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Low alkaline phosphatase, Decreased serum zinc	OMIM:201100
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Graft Versus Host Disease	Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circulating alkaline phosph...	ORPHA:39812
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:2785
Aggressive Systemic Mastocytosis	Decreased liver function, Portal hypertension, Elevated circulating alkaline phosphatase concentr...	ORPHA:98850
Mirizzi Syndrome	Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated hepatic transaminase,...	ORPHA:521219
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypoalbuminemia, Abnormal circulating fatty-acid concen...	ORPHA:2298
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Elevated circulating alkaline phosphatase concentration	OMIM:600785
Marburg Hemorrhagic Fever	Hypokalemia, Jaundice, Elevated hepatic transaminase, Elevated circulating creatine kinase concen...	ORPHA:99826
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Liver Disease, Severe Congenital	Hepatic failure, Hyperalaninemia, Elevated hepatic iron concentration, Jaundice, Hyperbilirubinem...	OMIM:619991
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hypercalcemia, Calcinosis	OMIM:239200
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia	ORPHA:505248
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Hepatitis, Hyperkalemia, Hypercalcemia, Hyponatremia	ORPHA:199299
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia	ORPHA:79396
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Hepatic failure, Jaundice, Elevated hepatic transaminase, Hyperkalemia, Ele...	ORPHA:275761
Gitelman Syndrome	Hypokalemia, Hypocalcemia, Hypomagnesemia, Hypermagnesemia	ORPHA:358
Infection-Related Hemolytic Uremic Syndrome	Hypocalcemia, Hyperkalemia, Hyponatremia	ORPHA:544482
Cranioectodermal Dysplasia 1	Hepatic failure, Hypocalcemia	OMIM:218330
Primary Hepatic Neuroendocrine Carcinoma	Intermittent jaundice, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transami...	ORPHA:100085
Familial Hypocalciuric Hypercalcemia	Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia	ORPHA:405
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia, Interface hepatitis, Elevated hepatic transaminase, Elevated gamma-glutamyltr...	ORPHA:562639
Fibrodysplasia Ossificans Progressiva	Elevated circulating alkaline phosphatase concentration	OMIM:135100
Autosomal Recessive Hypophosphatemic Rickets	Elevated alkaline phosphatase of bone origin, Hypocalcemic tetany, Hypophosphatemic rickets, Rena...	ORPHA:289176
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated circulating alanine aminotransferase concentration, Elevated circulating phytanic acid c...	OMIM:614866
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia	ORPHA:251004
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Elevated...	ORPHA:247691
Caroli Syndrome	Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Intrahepatic choles...	ORPHA:480520
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Reynolds Syndrome	Calcinosis, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circulating alk...	OMIM:613471
Autosomal Recessive Malignant Osteopetrosis	Hypophosphatemia, Hypocalcemia	ORPHA:667
Wild Type Attr Amyloidosis	Elevated circulating alkaline phosphatase concentration	ORPHA:330001
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat...	OMIM:619534
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Osteogenesis Imperfecta, Type Xi	Elevated circulating alkaline phosphatase concentration	OMIM:610968
Acrodysostosis With Multiple Hormone Resistance	Hypocalcemia, Hyperphosphatemia	ORPHA:280651
22Q11.2 Deletion Syndrome	Hypocalcemia	ORPHA:567
Immunodeficiency 82 With Systemic Inflammation	Hepatitis, Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia	OMIM:619381
Fibrous Dysplasia Of Bone	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypercalcemia	ORPHA:249
Acute Adrenal Insufficiency	Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia	ORPHA:95409
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low alkaline phosphatase, Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Smith-Lemli-Opitz Syndrome	Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia	OMIM:270400
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia, Elevated hepatic transaminase, Abno...	OMIM:137920
Thymic Aplasia	Hypocalcemic tetany, Atypical or prolonged hepatitis	ORPHA:83471
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Developmental And Epileptic Encephalopathy 80	Elevated circulating alkaline phosphatase concentration	OMIM:618580
Senior-Boichis Syndrome	Elevated circulating alkaline phosphatase concentration, Portal hypertension, Elevated hepatic tr...	ORPHA:84081
Bartter Syndrome, Type 1, Antenatal	Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri...	OMIM:601678
Pheochromocytoma	Hypercalcemia	OMIM:171300
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Hyperphosphatasia-Intellectual Disability Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:247262
Developmental And Epileptic Encephalopathy 95	Elevated circulating alkaline phosphatase concentration, Low alkaline phosphatase	OMIM:618143
Mastocytosis	Hypercalcemia	ORPHA:98292
Lathosterolosis	Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Elevated hepatic transaminase...	OMIM:607330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Elevated circulating alkaline phosphatase concentration	OMIM:239300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Elevated circulating alkaline phosphatase concentration	OMIM:614749
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Portal hypertension, Hypocalcemia, Hypomagnesemia	OMIM:619503
Raine Syndrome	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia	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
Hypophosphatemic Rickets	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypercalcemia	ORPHA:437
Ppoma	Intermittent jaundice, Hypercalcemia, Intrahepatic cholestasis	ORPHA:97278
Vipoma	Intermittent jaundice, Hypokalemia, Hypercalcemia, Intrahepatic cholestasis	ORPHA:97282
Addison Disease	Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia	ORPHA:85138
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Eiken Syndrome	Elevated circulating alkaline phosphatase concentration	OMIM:600002
Somatostatinoma	Intermittent jaundice, Hypercalcemia, Intrahepatic cholestasis	ORPHA:97283
Boudin-Mortier Syndrome	Elevated alkaline phosphatase of bone origin	OMIM:619543
Gorham-Stout Disease	Elevated alkaline phosphatase of bone origin	ORPHA:73
Grfoma	Intermittent jaundice, Hypercalcemia, Intrahepatic cholestasis	ORPHA:97261
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Hypertyrosinemia, Elevat...	OMIM:124000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Johanson-Blizzard Syndrome	Hepatic failure, Increased VLDL cholesterol concentration, Hypocalcemia	OMIM:243800
X-Linked Hypophosphatemia	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia	ORPHA:89936
Glucagonoma	Intermittent jaundice, Hypercalcemia, Intrahepatic cholestasis	ORPHA:97280
Hyperparathyroidism, Transient Neonatal	Elevated circulating alkaline phosphatase concentration	OMIM:618188
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elevated circulating alkaline phosphatase concentration	OMIM:618162
Zollinger-Ellison Syndrome	Jaundice, Hypercalcemia	ORPHA:913
Gallbladder Neuroendocrine Tumor	Intermittent jaundice, Elevated gamma-glutamyltransferase level, Elevated alkaline phosphatase of...	ORPHA:100086
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
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:618548
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated circulating alkaline phosphatase concentration, Portal hypertension, Elevated hepatic tr...	OMIM:620005
Estrogen Resistance	Elevated alkaline phosphatase of bone origin	OMIM:615363
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva...	OMIM:619525
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Metaphyseal Dysplasia, Braun-Tinschert Type	Elevated alkaline phosphatase of bone origin	ORPHA:85188
Sarcoidosis	Decreased liver function, Hepatic failure, Portal hypertension, Hypercalcemia	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	Reduced thyroxin-binding globulin, Elevated hepatic transaminase, Hypoalbuminemia	ORPHA:79318
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Williams-Beuren Syndrome	Portal hypertension, Hypercalcemia	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	Elevated alkaline phosphatase of bone origin, Hypophosphatemic rickets	ORPHA:51608
Hyperthyroxinemia, Familial Dysalbuminemic		OMIM:615999

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Alb

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Alb.

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

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MGI Allele	Allele Type	Produced
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

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