Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
albumin
Synonyms:
Alb1,  Alb-1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Alb mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Albtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Albtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Albem1(IMPC)H Exon Deletion Mice

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