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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Elevated circ... OMIM:619658
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hypercholesterolemia, Increased serum bile acid concentration, Elevated circulating ala... OMIM:619868
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration OMIM:620357
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu... OMIM:616829
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating alanine aminotransferase c... OMIM:613752
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia OMIM:619073
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Adamantinoma
Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Jaundice ORPHA:172
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Elevated circulating alanine aminotransferase concentration, Increased to... OMIM:618528
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Refractory Celiac Disease
Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic transaminase concentra... ORPHA:398063
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia ORPHA:89937
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration OMIM:606263
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Conjugated hyp... OMIM:619484
Cholestasis-Lymphedema Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Conjugated hyp... OMIM:214900
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Conj... OMIM:605479
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosp... OMIM:617093
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration OMIM:174050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Abnormality of alkaline phosphatase level, Elevated circulating creatine kinase concentration, El... OMIM:620375
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Elevated circulating alkaline phosphatase concentration, Low alkaline phosphatase OMIM:618879
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated circulating hepatic transaminase concentration, Increased serum bile acid concentration,... OMIM:242150
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice, Abnormal circulating enzyme c... ORPHA:79320
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... OMIM:620632
Mpi-Cdg
Decreased liver function, Hypoalbuminemia, Portal hypertension, Abnormal circulating enzyme conce... ORPHA:79319
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Genetic Recurrent Myoglobinuria
Hyperkalemia, Elevated circulating hepatic transaminase concentration, Elevated circulating aldol... ORPHA:99845
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Elevated circulating alanine aminotransferase concentration OMIM:618805
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hype... OMIM:235555
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Elevated circulating C-reactive protein concentra... ORPHA:158061
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Intrahepatic cholestasis, Elevated... OMIM:605814
Hypophosphatasia, Childhood
Elevated plasma pyrophosphate, Low alkaline phosphatase OMIM:241510
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia OMIM:193100
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration OMIM:619013
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Osteosclerotic Metaphyseal Dysplasia
Elevated circulating alkaline phosphatase concentration OMIM:615198
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elevated c... OMIM:613070
Alg1-Cdg
Decreased liver function, Hypoalbuminemia ORPHA:79327
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Hyperbilirubinemia, Elevated circulating alanine aminotransferase concentration, Elevat... ORPHA:79302
Epiphyseal Chondrodysplasia, Miura Type
Elevated alkaline phosphatase of bone origin, Abnormal circulating beta-C-terminal telopeptide co... OMIM:615923
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
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Generalized Pustular Psoriasis
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... ORPHA:247353
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia OMIM:600081
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia, Elevated circulating hepatic transaminase concentration ORPHA:94086
Cholestasis, Progressive Familial Intrahepatic, 8
Jaundice, Elevated circulating alkaline phosphatase concentration, Hypercholesterolemia, Increase... OMIM:619662
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Increased LDL cholestero... OMIM:267700
Congenital Disorder Of Glycosylation, Type Iio
Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic transaminase concentra... OMIM:616828
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration ORPHA:329475
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Hyperbilirub... OMIM:617156
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Elevated circulating alkaline phosphatase concentration, Hyp... OMIM:264700
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Fulminant hepatitis, Elevated circulating C-reactive protein concentration, Hepa... OMIM:308240
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration ORPHA:507
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Elevated circulating hepatic transaminase concentration, Portal hyperte... ORPHA:367
Oncogenic Osteomalacia
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia ORPHA:352540
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating homocysteine concen... ORPHA:88618
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Abnormal... ORPHA:79303
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Hyponatrem... ORPHA:1667
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Avian Influenza
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... ORPHA:454836
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration OMIM:239100
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hypokalemia, Elevated circulating alpha-fetoprotein concentration, Elevated gamma-gluta... OMIM:613095
Osteopetrosis, Autosomal Recessive 1
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... OMIM:259700
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hypoprot... OMIM:603553
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Elevat... ORPHA:247585
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
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hypoproteinemia,... ORPHA:26793
Neuroleptic Malignant Syndrome
Hyperkalemia, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Hypocalcemi... ORPHA:94093
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia, Elevated circulating hepatic transaminase... ORPHA:284426
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Hepatoportal Sclerosis
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Portal hyp... ORPHA:64743
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration, Elevated circulating alkaline phosph... OMIM:620366
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia OMIM:175500
Uremic Pruritus
Hypermagnesemia, Elevated total serum tryptase, Increased blood urea nitrogen, Hypercalcemia, Ren... ORPHA:94059
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Hypocalcemic Vitamin D-Dependent Rickets
Elevated alkaline phosphatase of bone origin, Hypocalcemic seizures, Hypocalcemia, Hypophosphatem... ORPHA:289157
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... ORPHA:668
X-Linked Agammaglobulinemia
Hypocalcemia, Hepatitis ORPHA:47
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating alkaline phosphatase concentration, Elevated circulating he... ORPHA:67
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic failure OMIM:602579
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transamina... ORPHA:540
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration OMIM:616833
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Conjugated hyp... OMIM:601847
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... OMIM:616809
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Hypoalbuminemia OMIM:617021
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:278000
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Abnormality of alkaline phosphatase level OMIM:618010
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Portal hyp... OMIM:251880
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Hyperalaninemi... OMIM:618329
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Bile Acid Synthesis Defect, Congenital, 3
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Hype... OMIM:613812
Timothy Syndrome
Hypocalcemia OMIM:601005
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Juvenile Nephropathic Cystinosis
Elevated alkaline phosphatase of bone origin, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatrem... ORPHA:411634
Familial Expansile Osteolysis
Elevated circulating alkaline phosphatase concentration OMIM:174810
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration OMIM:613312
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating alkaline phosphatase concentration OMIM:122860
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia, Hepatitis, Hepatic failure ORPHA:292
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Jaundice, Elevated circulating alkaline phosphatase con... ORPHA:186
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Hypocalcemia, Decreased circulating prea... ORPHA:37042
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Calcinosis, Elevated circulating alkaline phosphatase concentration, Hyperphosphat... OMIM:211900
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Hepatic failure OMIM:235255
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase OMIM:619985
Cog4-Cdg
Hypercholesterolemia, Elevated circulating alkaline phosphatase concentration, Elevated circulati... ORPHA:263501
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circu... ORPHA:36234
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating alkaline phosphatase concentration, Elevated circulating hepat... OMIM:616026
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration OMIM:606893
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia ORPHA:173
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyp... OMIM:227810
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Fanconi Renotubular Syndrome 1
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypokalemia OMIM:134600
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hepatic failure ORPHA:1655
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level OMIM:619356
Parenteral Nutrition-Associated Cholestasis
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... ORPHA:567983
Congenital Disorder Of Glycosylation, Type Iij
Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas... OMIM:613489
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Chronic hepatic failure ORPHA:746
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Al Amyloidosis
Hypoalbuminemia, Elevated circulating alkaline phosphatase concentration, Increased circulating N... ORPHA:85443
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Elevated circulating hepatic transaminase concentration OMIM:212750
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Elevated circulating alkaline phosphatase concentration OMIM:602080
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:79324
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Portal hypertension OMIM:619487
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Elevated circulating hepatic transaminase concentration, Increased serum bile acid conc... ORPHA:69665
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Xfe Progeroid Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration OMIM:610965
Hypophosphatasia, Infantile
Hypercalcemia, Elevated plasma pyrophosphate, Low alkaline phosphatase OMIM:241500
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79444
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Decreased circulating iron concentration, Decrease... ORPHA:89842
Paget Disease Of Bone 3
Elevated circulating alkaline phosphatase concentration OMIM:167250
Trichohepatoenteric Syndrome 1
Jaundice, Abnormality of iron homeostasis, Hypergalactosemia, Increased circulating iron concentr... OMIM:222470
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
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Hypophosphatasia
Hypercalcemia ORPHA:436
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... OMIM:248250
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemic rickets, Elevated circulating alkali... OMIM:241530
Lathosterolosis
Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Hyperbilirubin... OMIM:607330
Osteogenesis Imperfecta, Type Vi
Elevated circulating alkaline phosphatase concentration, Elevated circulating deoxypyridinoline c... OMIM:613982
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Wilson Disease
Jaundice, Decreased circulating ceruloplasmin concentration, High nonceruloplasmin-bound serum co... OMIM:277900
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating hepatic transaminase concentration OMIM:212065
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Hypophosphatem... ORPHA:2088
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Hepatic failure OMIM:259720
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypocalcemia, Hyponatremia, Calcinosis, Hypokalemia OMIM:617913
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... ORPHA:52430
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Elevated circulating hepatic transaminase concentration,... ORPHA:14
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia OMIM:156400
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Primary Sclerosing Cholangitis
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphatase ... ORPHA:171
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemic rickets, Elevated circulating alkali... OMIM:307800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Hypocalcemia, ... OMIM:613658
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Elevated circu... ORPHA:263455
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Elevated alkaline phosphatase of bone origin, Hypophosphatemic rickets, Hypophosphatemia, Increas... ORPHA:157215
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas... OMIM:614576
Xq12-Q13.3 Duplication Syndrome
Elevated circulating creatine kinase concentration, Low alkaline phosphatase ORPHA:314389
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Congenital Disorder Of Glycosylation, Type Iiaa
Elevated circulating alkaline phosphatase concentration, Hyperammonemia, Elevated circulating asp... OMIM:620454
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:466650
Camurati-Engelmann Disease, Type 2
Elevated circulating alkaline phosphatase concentration OMIM:606631
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79443
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Elevated circulating alkaline phosphatase concentration OMIM:615716
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia OMIM:277440
Trichorhinophalangeal Syndrome, Type I
Abnormal blood phosphate concentration, Abnormality of alkaline phosphatase level, Abnormal circu... OMIM:190350
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Tafro Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... ORPHA:457077
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Hypokalemia, Hypocalcemia, Hyperalaninem... ORPHA:699
Gallbladder Disease 1
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... OMIM:600803
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Isolated Biliary Atresia
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Elev... ORPHA:30391
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Calvarial Doughnut Lesions With Bone Fragility
Elevated circulating alkaline phosphatase concentration OMIM:126550
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hypophosphatasia, Adult
Low alkaline phosphatase OMIM:146300
Intermediate Osteopetrosis
Elevated circulating alkaline phosphatase concentration ORPHA:210110
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased ci... ORPHA:90363
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Elevated circulating alkaline phosphatase concentration, Hydroxyprolinemia, Hy... OMIM:239000
Caroli Disease
Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase concentration, Elev... ORPHA:53035
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Low alkaline phosphatase OMIM:201100
Cystic Echinococcosis
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elevated g... ORPHA:400
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Aggressive Systemic Mastocytosis
Decreased liver function, Elevated total serum tryptase, Elevated circulating alkaline phosphatas... ORPHA:98850
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypoalbuminemia, Abnormal circulating fatty-acid concen... ORPHA:2298
Graft Versus Host Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Acute hepatitis, Hyperbilirubi... ORPHA:39812
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration, Abnormal circulating enzyme con... ORPHA:2785
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:619991
Marburg Hemorrhagic Fever
Jaundice, Elevated circulating hepatic transaminase concentration, Hypokalemia, Hyperamylasemia, ... ORPHA:99826
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating alkaline phosphatase concentration OMIM:600785
Mirizzi Syndrome
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... ORPHA:521219
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Hyperkalemia ORPHA:544482
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Hypomagnesemia, Hypokalemia ORPHA:358
Cranioectodermal Dysplasia 1
Hypocalcemia, Hepatic failure OMIM:218330
Lysosomal Acid Lipase Deficiency
Decreased liver function, Hypertriglyceridemia, Hyperkalemia, Jaundice, Elevated circulating hepa... ORPHA:275761
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Late-Onset Isolated Acth Deficiency
Hypercalcemia, Hyponatremia, Hepatitis, Hyperuricemia ORPHA:199299
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Kawasaki Disease
Hypoalbuminemia, Jaundice, Hepatitis, Elevated circulating C-reactive protein concentration ORPHA:2331
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Elevated circulating alkaline phosphatase concentr... ORPHA:247691
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Jaundice, Elevated circulating al... OMIM:614866
Fibrodysplasia Ossificans Progressiva
Elevated circulating alkaline phosphatase concentration OMIM:135100
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elevated gamma-gluta... ORPHA:562639
Reynolds Syndrome
Calcinosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia... OMIM:613471
Caroli Syndrome
Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentration, Hype... ORPHA:480520
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Hypernatremia, Hepatitis, Elevated circulating C-reactive protein concentration OMIM:619381
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Elevated circulating alkaline phosphatase concentration, Hyperalaninemia OMIM:620451
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Fibrous Dysplasia Of Bone
Hypercalcemia, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia ORPHA:249
Biliary, Renal, Neurologic, And Skeletal Syndrome
Jaundice, Hypercholesterolemia, Hyperbilirubinemia, Elevated circulating alanine aminotransferase... OMIM:619534
Acute Adrenal Insufficiency
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia ORPHA:95409
T-Cell Immunodeficiency With Thymic Aplasia
Atypical or prolonged hepatitis, Hypocalcemic tetany ORPHA:83471
Wild Type Attr Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:330001
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Low alkaline phosphatase ORPHA:369837
Osteogenesis Imperfecta, Type Xi
Elevated circulating alkaline phosphatase concentration OMIM:610968
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia OMIM:270400
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Pheochromocytoma
Hypercalcemia OMIM:171300
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia, Portal hypertension OMIM:619503
Renal Cysts And Diabetes Syndrome
Abnormality of alkaline phosphatase level, Elevated circulating creatinine concentration, Elevate... OMIM:137920
Developmental And Epileptic Encephalopathy 80
Elevated circulating alkaline phosphatase concentration OMIM:618580
Senior-Boichis Syndrome
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Elevated circ... ORPHA:84081
Developmental And Epileptic Encephalopathy 95
Elevated circulating alkaline phosphatase concentration, Low alkaline phosphatase OMIM:618143
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Elevated circulating alkaline phosphatase concentration OMIM:239300
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hypocalcemia, Portal hypertension, Elevated circulating alanine aminotr... OMIM:243800
Hyperphosphatasia-Intellectual Disability Syndrome
Elevated circulating alkaline phosphatase concentration ORPHA:247262
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Elevated circulating alkaline phosphatase concentration OMIM:614749
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Elevated circulating alkaline phosphatase concentration OMIM:618590
Raine Syndrome
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
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Elevated circulating alkaline phosphatase concentration OMIM:614207
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Addison Disease
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia ORPHA:85138
Vipoma
Hypercalcemia, Intrahepatic cholestasis, Intermittent jaundice, Hypokalemia ORPHA:97282
Ppoma
Hypercalcemia, Intrahepatic cholestasis, Intermittent jaundice ORPHA:97278
Eiken Syndrome
Elevated circulating alkaline phosphatase concentration OMIM:600002
Boudin-Mortier Syndrome
Elevated alkaline phosphatase of bone origin OMIM:619543
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphatase of hepatic... ORPHA:100085
Gorham-Stout Disease
Elevated alkaline phosphatase of bone origin ORPHA:73
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Somatostatinoma
Hypercalcemia, Intrahepatic cholestasis, Intermittent jaundice ORPHA:97283
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Digeorge Syndrome
Hypocalcemia OMIM:188400
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Hypertyrosinem... OMIM:124000
Grfoma
Hypercalcemia, Intrahepatic cholestasis, Intermittent jaundice ORPHA:97261
Hyperparathyroidism, Transient Neonatal
Elevated circulating alkaline phosphatase concentration OMIM:618188
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase ORPHA:785
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elevated circulating alkaline phosphatase concentration OMIM:618162
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Elevated circulating alkaline phosphatase concentration OMIM:618548
Glucagonoma
Hypercalcemia, Intrahepatic cholestasis, Intermittent jaundice ORPHA:97280
X-Linked Hypophosphatemia
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia ORPHA:89936
Charge Syndrome
Hypocalcemia OMIM:214800
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Zollinger-Ellison Syndrome
Jaundice, Hypercalcemia ORPHA:913
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elevated hepatic iron concentration, Elevated circulating alkaline phosphatase concentration OMIM:300868
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Elevated circulating alkaline phosphatase concentration, Elevated circulating alanine aminotransf... OMIM:280000
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice, Elevated gamma-glutamyltr... ORPHA:100086
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... OMIM:619525
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas... OMIM:620005
Estrogen Resistance
Elevated alkaline phosphatase of bone origin OMIM:615363
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Autosomal Recessive Hypophosphatemic Rickets
Elevated alkaline phosphatase of bone origin, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Metaphyseal Dysplasia, Braun-Tinschert Type
Elevated alkaline phosphatase of bone origin ORPHA:85188
Sarcoidosis
Decreased liver function, Hypercalcemia, Portal hypertension, Hepatic failure ORPHA:797
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Pmm2-Cdg
Hypoalbuminemia, Reduced thyroxin-binding globulin, Elevated circulating hepatic transaminase con... ORPHA:79318
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Williams-Beuren Syndrome
Hypercalcemia, Portal hypertension OMIM:194050
Spondyloepimetaphyseal Dysplasia, X-Linked
Abnormality of alkaline phosphatase level OMIM:300106
Sotos Syndrome
Prolonged neonatal jaundice, Hypercalcemia ORPHA:821
Generalized Arterial Calcification Of Infancy
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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
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

The IMPC Newsletter

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

Subscribe to newsletter