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Gene: 1500009L16Rik MGI:1917034

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Gene Summary

Name:
RIKEN cDNA 1500009L16 gene
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating calcium level 1500009L16Rikem1(IMPC)Mbp HOM Early adult 4.23×10-05
increased circulating aspartate transaminase level 1500009L16Rikem1(IMPC)Mbp HOM   Early adult 2.04×10-06
increased circulating creatinine level 1500009L16Rikem1(IMPC)Mbp HOM   Early adult 1.15×10-05
decreased bone mineral density 1500009L16Rikem1(IMPC)Mbp HOM Early adult 9.06×10-05
increased circulating serum albumin level 1500009L16Rikem1(IMPC)Mbp HOM   Early adult 1.46×10-06

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by 1500009L16Rik 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to 1500009L16Rik by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Bone cyst ORPHA:2668
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis ORPHA:88643
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... OMIM:179800
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr... OMIM:620366
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Rickets, Osteomalacia OMIM:179830
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Diarrhea 13
Hypoalbuminemia OMIM:620357
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Fractures of the long bones, Sclerosis of skull base, Increased susceptibility... OMIM:602080
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Hyperc... OMIM:617994
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Osteopenia, Increased serum bile acid concentration OMIM:619256
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Hypophosphatasia
Craniosynostosis, Hypercalcemia, Recurrent fractures ORPHA:436
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Hypocalcemia ORPHA:172
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Infantile Myofibromatosis
Limitation of joint mobility, Hypercalcemia, Osteolysis, Bone cyst ORPHA:2591
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia OMIM:618618
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Rickets OMIM:615605
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, Hypercalcemia OMIM:211900
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Elevated circulating creatinine concentration, Arthritis ORPHA:567544
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Periostosis OMIM:614441
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:617056
Hypophosphatasia, Infantile
Unossified vertebral bodies, Elevated plasma pyrophosphate, Increased susceptibility to fractures... OMIM:241500
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic... ORPHA:93324
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia ORPHA:89937
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia OMIM:600740
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Pathologic fracture, Hip contracture, Knee flexion contracture, Hypophosphatemia, Hyp... OMIM:156400
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Multiple Myeloma
Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Hyperproteinemia,... ORPHA:29073
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Recurrent fractures, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia ORPHA:97289
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hypophosphatemia, Calcinosis, Hypercalcemia, Recurrent fractures OMIM:239200
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia ORPHA:398063
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture OMIM:616733
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
2P21 Microdeletion Syndrome
Cystinuria, Hypocalcemia ORPHA:163693
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hypocalcemia, Hypophosph... ORPHA:93160
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones... ORPHA:249
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:600081
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... ORPHA:36913
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... ORPHA:94089
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis, Arthritis, Ost... ORPHA:53
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Oculoskeletodental Syndrome
Elbow flexion contracture, Hypercalcemia, Hypocalcemia OMIM:618440
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Joint hypermobility, Hypertriglyceridemia OMIM:619013
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Generalized bone demineralization, Hyperuricemia ORPHA:199299
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Hypocalcemia, Sparse bone tr... OMIM:264700
Alg1-Cdg
Hypoalbuminemia, Limitation of joint mobility ORPHA:79327
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Kenny-Caffey Syndrome, Type 1
Decreased skull ossification, Hypocalcemia, Calvarial osteosclerosis, Hypomagnesemia OMIM:244460
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Gout, Hyperuricemia ORPHA:79233
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Hypocalcemia, Femur fracture, Osteopetrosis, Calvarial osteos... OMIM:259700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly OMIM:608104
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Immunodeficiency 27A
Hypoalbuminemia, Salmonella osteomyelitis OMIM:209950
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hype... OMIM:601678
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level ORPHA:95409
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612287
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Generalized Pustular Psoriasis
Hypoalbuminemia, Hypocalcemia, Hyponatremia, Arthritis, Elevated circulating C-reactive protein c... ORPHA:247353
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Addison Disease
Hyperuricemia, Hyponatremia, Generalized bone demineralization, Hyperkalemia, Hypercalcemia, Incr... ORPHA:85138
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Osteomalacia, Hypocalcemia, ... ORPHA:289157
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr... OMIM:127000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Joint hypermobility, Hypertriglyceridemia, Craniosynostosis, Hypercalcemia ORPHA:369837
Pheochromocytoma
Hypercalcemia OMIM:171300
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hyperammonemia, Joint hypermobility, Decreased serum zinc, Conjugated hyperbilir... OMIM:617093
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated cir... ORPHA:158061
Oncogenic Osteomalacia
Pathologic fracture, Fibrous dysplasia of the bones, Hypocalcemia, Increased susceptibility to fr... ORPHA:352540
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Hypotonia-Cystinuria Syndrome
Cystinuria, Hypocalcemia OMIM:606407
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Osteomyelitis, Hypocalcemia, Elev... ORPHA:36234
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetrosis, Diaphysea... OMIM:618476
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Leishmaniasis
Hypoalbuminemia ORPHA:507
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elbow flexion contracture, Elevated circulating creatinine concentrati... OMIM:608836
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypophosphatemia, Hypercalcemia ORPHA:99880
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Gracile Bone Dysplasia
Hypocalcemia, Decreased skull ossification OMIM:602361
Parathyroid Carcinoma
Osteoporosis, Hypophosphatemia, Hypercalcemia ORPHA:143
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Distal symphalangism OMIM:154230
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
X-Linked Agammaglobulinemia
Osteomyelitis, Hypocalcemia, Arthritis ORPHA:47
Juvenile Nephropathic Cystinosis
Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ... ORPHA:411634
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Flexion contracture ORPHA:367
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Osteopenia, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:174000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Timothy Syndrome
Hypocalcemia OMIM:601005
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Hypocalcemic tetany, Subcutaneous ossification, Hyperphosphatemia OMIM:103580
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration OMIM:618885
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased... ORPHA:79444
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level OMIM:301110
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Hyperbilirubinemia, Hypocalcemia, Osteopetrosis, Decreased osteoclast count... OMIM:259720
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Elevated circulating alpha-fetopr... OMIM:251880
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:619055
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo... OMIM:248250
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Osteomyelitis, Hypocalcemia, Decreased circulating prealbumin co... ORPHA:37042
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Hypocalcemia OMIM:212750
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra... ORPHA:85450
Ppoma
Hypercalcemia ORPHA:97278
Sickle Cell Anemia
Osteoporosis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Ost... ORPHA:232
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased... ORPHA:79443
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Joint hypermobility ORPHA:653
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Hypocalcemia, Joint hypermobility, Thin bony cortex, Unconj... OMIM:613658
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Flexion contracture, Osteopenia OMIM:212065
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apoli... ORPHA:14
Wilson Disease
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Osteomalacia, Hyperbilirubinemia, Increased circula... OMIM:277900
Somatostatinoma
Hypercalcemia ORPHA:97283
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Multiple Endocrine Neoplasia Type 1
Reduced bone mineral density, Hypercalcemia, Increased susceptibility to fractures, Osteolysis ORPHA:652
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Flexion contracture OMIM:617303
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Osteoporosis OMIM:619487
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Grfoma
Hypercalcemia ORPHA:97261
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Abnormal bone ossification, Camptodactyly ORPHA:79324
Williams Syndrome
Synostosis of joints, Osteopenia, Abnormal circulating lipid concentration, Joint stiffness, Join... ORPHA:904
Glucagonoma
Hypercalcemia ORPHA:97280
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Osteoporosis, Co... ORPHA:186
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Camptodactyly OMIM:235510
Papillorenal Syndrome
Elevated circulating creatinine concentration, Joint hypermobility OMIM:120330
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Camptodactyly OMIM:617729
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro... OMIM:222470
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Osteopetrosis, Craniosynostosis, Reduced bone mineral density, Re... ORPHA:667
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Decreased skull ossification, Calvarial osteosclerosis, C... ORPHA:93325
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Abnormal circulat... ORPHA:2298
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Camptodactyly OMIM:251300
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Cartilage-Hair Hypoplasia
Limited elbow extension, Hypocalcemia, Joint hypermobility, Abnormal bone ossification, Abnormall... ORPHA:175
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... ORPHA:90363
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Williams-Beuren Syndrome
Osteopenia, Joint hypermobility, Radioulnar synostosis, Osteoporosis, Flexion contracture, Hyperc... OMIM:194050
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Craniosynostosis ORPHA:79396
Sarcoidosis
Hypercalcemia, Bone cyst ORPHA:797
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Joint stiffness, Flexion contracture ORPHA:505248
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:137920
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Primary Sclerosing Cholangitis
Hypoalbuminemia, Osteopenia, Osteoporosis ORPHA:171
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Osteomalacia, Osteomyelitis, Arthritis, Elevated circulating C-reactive protein ... OMIM:619381
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Sotos Syndrome
Ankle flexion contracture, Hip contracture, Joint hypermobility, Bilateral camptodactyly, Cranios... ORPHA:821
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Hyperextensibility of the finger joints ORPHA:163979
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Cranioectodermal Dysplasia 1
Osteoporosis, Sagittal craniosynostosis, Hypocalcemia, Joint hypermobility OMIM:218330
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Septic arthritis, Hypocalcemia ORPHA:544482
Hennekam Syndrome
Craniosynostosis, Hypocalcemia, Camptodactyly of finger ORPHA:2136
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Gout, Hypocalcemia, Hypokalemia ORPHA:358
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Liver Disease, Severe Congenital
Aminoaciduria, Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hy... OMIM:619991
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:449395
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia ORPHA:2331
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Epiphyseal stippling, Elevated circulating 7-dehydrocholest... OMIM:270400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Increased circulating ferritin concentration, Elevated circulating c... OMIM:619534
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Hypocalcemia, Arthritis, Joint hypermobility ORPHA:567
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Elbow flexion contracture, Hypocalcemia, Knee flexion contracture, Joint hypermob... OMIM:619503
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia, Joint hypermobility OMIM:620330
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Digeorge Syndrome
Hypocalcemia OMIM:188400
Johanson-Blizzard Syndrome
Joint hypermobility, Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol conc... OMIM:243800
Charge Syndrome
Hypocalcemia OMIM:214800
Pmm2-Cdg
Hypoalbuminemia, Osteopenia, Multiple joint contractures, Joint hypermobility, Reduced thyroxin-b... ORPHA:79318

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 1500009L16Rik

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 1500009L16Rik.

No publications found that use IMPC mice or data for 1500009L16Rik.

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MGI Allele Allele Type Produced
1500009L16Rikem1(IMPC)Mbp Exon Deletion Mice, Tissue

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