Gene Summary

Name:
zinc finger protein 558
Synonyms:
1700007A21Rik,  Zfp558-ps,  4932704I17Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating total protein level Zfp558em1(IMPC)Mbp HOM Early adult 1.11×10-10
abnormal epididymis morphology Zfp558em1(IMPC)Mbp HOM Early adult 0.00
decreased circulating serum albumin level Zfp558em1(IMPC)Mbp HOM Early adult 7.72×10-14
decreased circulating alkaline phosphatase level Zfp558em1(IMPC)Mbp HOM Early adult 3.48×10-05
decreased circulating glucose level Zfp558em1(IMPC)Mbp HOM Early adult 8.61×10-07
enlarged epididymis Zfp558em1(IMPC)Mbp HOM Early adult 0.00
decreased circulating creatinine level Zfp558em1(IMPC)Mbp HOM Early adult 1.87×10-09
decreased circulating phosphate level Zfp558em1(IMPC)Mbp HOM Early adult 8.60×10-08
decreased circulating calcium level Zfp558em1(IMPC)Mbp HOM Early adult 2.77×10-19

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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 Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Zfp558 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 Zfp558 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia, Cystinuria, Hypogonadism ORPHA:163693
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypercholesterolemia, Hypocalcemia, Diabetes mellitus, Hypertriglyceridemia OMIM:612526
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Dent Disease 2
Elevated circulating creatine kinase concentration, Aminoaciduria, Hypophosphatemia OMIM:300555
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Alpha-Heavy Chain Disease
Premature ovarian insufficiency, Hypocalcemia ORPHA:100025
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration OMIM:246700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Hypophosphatemia, Glycosuria OMIM:613388
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Nephrotic Syndrome, Type 14
Hypoglycemia, Cryptorchidism, Micropenis, Hypoalbuminemia, Hypertriglyceridemia, Hypogonadism OMIM:617575
Adamantinoma
Hypercalcemia ORPHA:55881
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Hypoproteinemia OMIM:608093
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypocalcemia, Hypergonadotropic hypogonadism, Cystinuria OMIM:606407
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Fanconi Renotubular Syndrome 5
Glycosuria, Aminoaciduria, Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Hypouricemia, Aminoaciduria, Diabetes mellitus, Hypophosphatemia OMIM:616026
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased total bili... OMIM:267700
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Aminoaciduria, Hypophosphatemia OMIM:308990
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Fanconi Renotubular Syndrome 1
Glycosuria, Aminoaciduria, Hypokalemia, Hypophosphatemia OMIM:134600
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Hypoproteinemia, Abnormal vagina morphology, Hypoplasia of p... ORPHA:2315
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypoketotic hy... ORPHA:26793
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron ORPHA:446
Azotemia, Familial
Azotemia OMIM:109160
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... ORPHA:247585
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Cryptorchidism, Micropenis, Hypocalcemia, Vaginal atresia, Abnormality of the ut... ORPHA:1655
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Cryptorchidism, Micropenis, Hypocalcemia, Hyperphosphatemia OMIM:241410
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Hypocalcemia, Hypoproteinemia, Micropenis OMIM:235255
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Micropenis, Hypospadias, Hypercalcemia OMIM:614732
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Hypouricemia, Hypophosphatemia OMIM:227810
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Cryptorchidism, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypoalbuminemia OMIM:608104
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Omenn Syndrome
Hypoproteinemia OMIM:603554
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyponatremia, Cryptorchidism, Hyperkalemia, Precocious puberty OMIM:614736
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... OMIM:603553
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Fasting hypoglycemia, Diabetes mellitus, Hypertriglyceride... ORPHA:2088
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Polycystic ovaries, ... ORPHA:2298
Dengue Fever
Hypoproteinemia ORPHA:99828
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Hypophosphatemia ORPHA:157215
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Hypercholesterolemia, Hypoplasia of penis, Diabetes mellitus, T... ORPHA:181393
Cystinosis
Aminoaciduria, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus ORPHA:213
Preeclampsia
Type I diabetes mellitus, Elevated circulating creatinine concentration, Polycystic ovaries ORPHA:275555
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Hypercalcemia ORPHA:2123
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Decreased circulating free fatty acid level, Neonatal hypoglycemia, Increas... ORPHA:324575
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Cryptorchidism, Micropenis, Hypocalcemia, Hypospadias OMIM:607143
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Glycosuria OMIM:614817
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Abnormal circulating leucine concentration, Hyperammonemia ORPHA:6
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Sanjad-Sakati Syndrome
Cryptorchidism, Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis ORPHA:2323
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hypoglycemia, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Saccharopinuria
Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Elevated pla... ORPHA:3124
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia ORPHA:469
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Oculoskeletodental Syndrome
Cryptorchidism, Hypocalcemia, Hypercalcemia OMIM:618440
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hyperammonemia ORPHA:664
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemi... ORPHA:411634
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaci... OMIM:619055
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Gracile Bone Dysplasia
Micropenis, Hypocalcemia OMIM:602361
Leishmaniasis
Hypoalbuminemia ORPHA:507
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Hypoglycemia, Hyperuricosuria, Bicarbonaturia... ORPHA:3337
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, ... ORPHA:1667
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Hypocalcemic seizures, Septate vagina, Uterus didelphys, Hypocalcemia, Vag... ORPHA:2237
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:307800
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Reduced C-peptide level, Elevated hemoglobin A1c, Hyperglycemia, Type I di... OMIM:618858
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating suberic acid concentration, Elevated circulating fumarate conc... OMIM:615160
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Cholera
Hypokalemia, Hypoglycemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia ORPHA:173
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron, Abnormality of ... OMIM:231100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Hypogonadism OMIM:612462
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperammonemia OMIM:618120
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Abnormal prostate morphology, Recurrent hypoglycemia, Uterine neoplasm, Hypophospha... ORPHA:2126
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Fructose Intolerance, Hereditary
Glycosuria, Hypoglycemia, Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, Hyp... OMIM:229600
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Aminoaciduria,... OMIM:619386
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Dent Disease 1
Glycosuria, Aminoaciduria, Hypophosphatemia OMIM:300009
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Hyperalaninemia, Hypoalbuminemia OMIM:618329
46,Xy Sex Reversal 4
Hypoplastic labia majora, Elevated circulating creatinine concentration, Increased blood urea nit... OMIM:154230
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Hypogonadism OMIM:103580
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kinase con... ORPHA:94093
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Hypoketotic hypoglycemia ORPHA:746
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia ORPHA:167
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Ovarian cyst, Diabetes mellitu... ORPHA:249
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Abnormal blood ion concentration, Aminoaciduria, Hypophosphatemia ORPHA:411629
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Visceral Steatosis, Congenital
Hypocalcemia, Hypoglycemia OMIM:228100
Mccune-Albright Syndrome
Ovarian cyst, Precocious puberty, Macroorchidism, Hyperplasia of the Leydig cells, Abnormal testi... ORPHA:562
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Polycystic ovaries, Abnormal penis morphology, Testicular neoplasm, Precocious puberty, Hyperphos... ORPHA:457059
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany, Hypergon... ORPHA:79444
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperlipidemia OMIM:232400
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Hypocholesterolemia, Hypergonadotropic hypogonadism, Hypoalbumin... OMIM:212065
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Glycosuria, Elevated circulating creatinine concentration, Impaired glucose tole... OMIM:137920
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Alg12-Cdg
Hyponatremia, Cryptorchidism, Micropenis, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholestero... ORPHA:79324
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Type I diabetes ... ORPHA:37042
Acrodysostosis With Multiple Hormone Resistance
Cryptorchidism, Hypocalcemia, Hyperphosphatemia, Diabetes mellitus, Hypospadias, Hypogonadism ORPHA:280651
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Opsismodysplasia
Hypophosphatemia OMIM:258480
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Testicular neoplasm, Infantile hypercalcemia, Uterine leiomyoma, Hypophosphatemia ORPHA:99880
Hypophosphatasia
Hypercalcemia ORPHA:436
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hypoadrenocorticism, Familial
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:240200
Parathyroid Carcinoma
Hypercalcemia, Testicular neoplasm, Infantile hypercalcemia, Uterine leiomyoma, Hypophosphatemia ORPHA:143
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Long penis, Insulin-... OMIM:262190
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Hypoalbuminemia OMIM:610965
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia, Type... ORPHA:88673
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Aicardi-Goutieres Syndrome 9
Micropenis, Hypoalbuminemia OMIM:619487
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia OMIM:618253
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Diabetes mellitus, Hypert... ORPHA:90041
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Dent Disease
Glycosuria, Hyperuricosuria, Elevated circulating creatine kinase concentration, Aminoaciduria, R... ORPHA:1652
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Micropenis, Hypocalcemia, Hyperbilirubinemia, Hypospadias ORPHA:163979
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia OMIM:618838
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Craniofacioskeletal Syndrome
Cryptorchidism, Hypocalcemia, Hypospadias OMIM:300712
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Increased serum iron, Hypos... OMIM:222470
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hypoglycemia, Hyperalaninemia OMIM:266150
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany, Hypergon... ORPHA:79443
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Decreased plasma carnitine, Hypoalbuminemia, Abnormal... ORPHA:89842
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Hypoalbuminemia OMIM:235510
Cystinosis, Nephropathic
Generalized aminoaciduria, Glycosuria, Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decre... OMIM:219800
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Type I diabetes mellitus OMIM:212750
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Velocardiofacial Syndrome
Cryptorchidism, Hypocalcemia OMIM:192430
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galac... ORPHA:79237
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Small scrotum, Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Decreased plasma carnitine, Hyper... OMIM:212140
Marburg Hemorrhagic Fever
Hypokalemia, Hypoglycemia, Elevated circulating creatinine concentration, Orchitis, Hyperamylasem... ORPHA:99826
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Hyponatremia, Hypercalcemia, Hyperuricemia, Premature ovarian insufficiency, Type I... ORPHA:199299
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Pierson Syndrome
Hypoproteinemia OMIM:609049
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hydroxyprolinuria, Hyperuricemia OMIM:239000
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Gitelman Syndrome
Diabetic ketoacidosis, Hypokalemia, Insulin resistance, Hypocalcemia, Glucose intolerance, Type I... ORPHA:358
Raine Syndrome
Hypophosphatemia OMIM:259775
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal labia majora morphology, Neonatal hypoglycemia, Hyponatremia, Increased circulating reni... ORPHA:90791
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Pearson Syndrome
Glycosuria, Hypokalemia, Hypocalcemia, Hypophosphatemia, Diabetes mellitus, Hypomagnesemia, Hyper... ORPHA:699
Addison Disease
Hypoglycemia, Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyper... ORPHA:85138
Abetalipoproteinemia
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypoalbuminemia... ORPHA:14
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Decreased plasma total carnitine, Elevated circulating creatinine concentration, No... OMIM:608836
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Decreased testicular size ORPHA:93325
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Elevated hemoglobin A1c, ... ORPHA:552
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Juvenile Polyposis Of Infancy
Freckled genitalia, Hypoalbuminemia ORPHA:79076
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperalaninemia, Hyperammonemia OMIM:615751
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Secondary Intestinal Lymphangiectasia
Hypocholesterolemia, Hypoalbuminemia, Reduced circulating transferrin concentration, Decreased pr... ORPHA:90363
Acute Adrenal Insufficiency
Hypoglycemia, Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyper... ORPHA:95409
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia, Precocious puberty ORPHA:437
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia ORPHA:199296
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Hyponatremia, Hyperkalemia, Abnormality of female external genitalia, Male pseudohe... ORPHA:90790
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Cryptorchidism, Hypoammonemia, Azoospermia, Amin... ORPHA:534
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia, Diabetes mellitus ORPHA:544482
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hyperphosphatemia, Hypogonadism OMIM:101800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Low plasma citrulline, Hypoglycemia, Impaired gluconeogenesis OMIM:261680
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentration OMIM:618885
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Diabetes mellitus ORPHA:439232
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia OMIM:613027
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Combined Oxidative Phosphorylation Deficiency 40
Elevated circulating creatine kinase concentration, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Elevated circulating creatine kinase concentration, Hypoglycemia OMIM:618839
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypoglycemia, Hyperamm... OMIM:212138
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Johanson-Blizzard Syndrome
Rectovaginal fistula, Septate vagina, Cryptorchidism, Micropenis, Hypocalcemia, Hypospadias, Diab... OMIM:243800
Juvenile Polyposis Syndrome
Hypoproteinemia, Rectocele ORPHA:2929
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Monosomy 13Q34
Infantile hypercalcemia, Insulin resistance ORPHA:96168
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Primary Sclerosing Cholangitis
Type I diabetes mellitus, Hypoalbuminemia ORPHA:171
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia OMIM:131100
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia, Hyperprolinemia, Increased serum pyruvate, Elevated circulating dodecanoylcarnitine... OMIM:619355
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevate... ORPHA:49041
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Acute hyperammonemia OMIM:210200
Mirage Syndrome
Hypoglycemia, Hyponatremia, Cryptorchidism, Hyperkalemia, Shawl scrotum, Microphallus, Hypergonad... OMIM:617053
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypocalcemia, Hypospadias, Abnormality of the uterus ORPHA:567
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Testicular neoplasm, Increased glucagon level, Cervix cancer, Fasting hyperinsulin... ORPHA:276152
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Mastocytosis
Hypercalcemia ORPHA:98292
Pheochromocytoma
Hypercalcemia OMIM:171300
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Anoperinea... OMIM:619381
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating creatinine conce... ORPHA:90038
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Hypoglycemia, Oligospermia, Precocious puberty, Female pseudohermaphroditism, Ambigu... ORPHA:786
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Precocious puberty ORPHA:369837
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Charge Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Hypocalcemia, External genital hypopla... OMIM:214800
Digeorge Syndrome
Hypocalcemia, Hydrocele testis, Ovarian cyst OMIM:188400
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Vipoma
Hypokalemia, Diabetes mellitus, Hypercalcemia ORPHA:97282
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cryptorchidism, Micropenis, Hypocalcemia, Unicornuate uterus, Hypomagnesemia OMIM:619503
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Tyrosinemia, Type I
Elevated alpha-fetoprotein, Hypoglycemia, Hypophosphatemic rickets, Hypermethioninemia, Hypertyro... OMIM:276700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Somatostatinoma
Diabetes mellitus, Hypercalcemia ORPHA:97283
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Leptospirosis
Hyperproteinemia ORPHA:509
Zollinger-Ellison Syndrome
Increased glucagon level, Hypercalcemia ORPHA:913
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Prostatit... ORPHA:449395
Glucagonoma
Diabetes mellitus, Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Hypercalcemia ORPHA:653
Ppoma
Hypercalcemia ORPHA:97278
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Hypogonadotropic hypogonadism, Insulin resistance, Hyperinsulinemia, Hyperplastic labia majora, A... ORPHA:79318
Grfoma
Hypercalcemia ORPHA:97261
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Floating-Harbor Syndrome
Epididymal cyst, Varicocele, Cryptorchidism, Congenital posterior urethral valve, Hypospadias OMIM:136140
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Yellow Fever
Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Elevated circulating crea... ORPHA:99829
Williams Syndrome
Hypogonadotropic hypogonadism, Hypercalcemia, Polycystic ovaries, Cryptorchidism, Abnormal circul... ORPHA:904
Sotos Syndrome
Neonatal hypoglycemia, Hypercalcemia, Cryptorchidism, Congenital posterior urethral valve, Phimos... ORPHA:821
Williams-Beuren Syndrome
Hypercalcemia, Micropenis, Diabetes mellitus, Glucose intolerance, Urethral stenosis OMIM:194050
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating C-reactive protein concentration, Elevated circulating creati... ORPHA:91500
Sarcoidosis
Abnormal reproductive system morphology, Hypercalcemia ORPHA:797
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Floating-Harbor Syndrome
Epididymal cyst, Varicocele, Cryptorchidism, Precocious puberty, Congenital posterior urethral va... ORPHA:2044

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 Zfp558

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 Zfp558.

No publications found that use IMPC mice or data for Zfp558.

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MGI Allele Allele Type Produced
Zfp558tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Zfp558em1(IMPC)Mbp Exon Deletion Mice, Tissue
Zfp558tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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