Gene Summary

Name:
desmoglein 1 gamma
Synonyms:
Dsg6

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
hypoactivity Dsg1cem1(IMPC)Mbp HOM Early adult 0.00
increased circulating total protein level Dsg1cem1(IMPC)Mbp HOM Early adult 1.15×10-05
increased circulating serum albumin level Dsg1cem1(IMPC)Mbp HOM Early adult 1.68×10-05
decreased thigmotaxis Dsg1cem1(IMPC)Mbp HOM Early adult 5.94×10-14
increased circulating calcium level Dsg1cem1(IMPC)Mbp HOM Early adult 4.87×10-05
increased circulating creatinine level Dsg1cem1(IMPC)Mbp HOM Early adult 1.95×10-06
increased circulating cholesterol level Dsg1cem1(IMPC)Mbp HOM Early adult 8.68×10-08
increased circulating glucose level Dsg1cem1(IMPC)Mbp HOM   Early adult 6.96×10-05
abnormal behavior Dsg1cem1(IMPC)Mbp HOM Early adult 5.94×10-14
decreased anxiety-related response Dsg1cem1(IMPC)Mbp HOM Early adult 2.78×10-11

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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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Dsg1c 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 Dsg1c by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Striate Palmoplantar Keratoderma
ORPHA:50942
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
OMIM:148700

The table below shows human diseases predicted to be associated to Dsg1c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypertrigl... OMIM:610947
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia OMIM:607250
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus, I... ORPHA:90041
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia ORPHA:94124
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Blue Diaper Syndrome
Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia ORPHA:94086
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Falls, Hypocalcemia OMIM:615883
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Hy... ORPHA:247585
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Hypercholesterolemia, Diabetes mellitus ORPHA:181393
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Irritability, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Dysmetria, Glucose intolerance, Impaired glucose tolerance, Hypercholesterole... OMIM:606721
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Uremic Pruritus
Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia, Hypermagnesemia, Depression ORPHA:94059
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Glycosuria, Ketotic hypoglycemia, Irritability, Postprandial hyperglycemia, Lethargy ORPHA:2089
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Hypophosphatasia
Hypercalcemia, Irritability ORPHA:436
Rhabdoid Tumor
Hypercalcemia, Irritability ORPHA:69077
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Ataxia, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:94090
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety, Ataxia OMIM:618970
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Azotemia, Familial
Azotemia OMIM:109160
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia OMIM:208920
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
Morgagni-Stewart-Morel Syndrome
Suicidal ideation, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Depression ORPHA:77296
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Irritability, Hypocalcemia, Anxie... ORPHA:36913
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus OMIM:618856
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Non-Functioning Paraganglioma
Panic attack, Hypercalcemia ORPHA:94080
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... OMIM:606176
2P21 Microdeletion Syndrome
Hypoglycemia, Cystinuria, Hypocalcemia ORPHA:163693
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Lethargy OMIM:143880
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma, Ataxia, Hypertriglyce... OMIM:277460
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholesterolemi... ORPHA:64753
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia OMIM:616222
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Hypophosphatasia, Infantile
Hypercalcemia, Irritability, Elevated plasma pyrophosphate OMIM:241500
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Aggressive behavior OMIM:608093
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia, Depression OMIM:600740
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, In... ORPHA:26793
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Irritability, Hypocalcemia, Anxie... ORPHA:94089
Preeclampsia
Elevated circulating creatinine concentration, Type I diabetes mellitus ORPHA:275555
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Head-banging OMIM:182290
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Late-Onset Isolated Acth Deficiency
Lethargy, Hyponatremia, Hypercalcemia, Hypoglycemia, Hyperuricemia, Type I diabetes mellitus, Dec... ORPHA:199299
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Dengue Fever
Hypoproteinemia, Lethargy ORPHA:99828
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Self-mutilation, Attention deficit hyperactivity disorder, Ga... ORPHA:476126
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hypercholesterolemia, Increased level of galactitol in plasma, H... ORPHA:79237
Alg6-Cdg
Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia ORPHA:79320
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Sporadic Pheochromocytoma/Secreting Paraganglioma
Panic attack, Hypercalcemia, Episodic paroxysmal anxiety ORPHA:276621
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hypoalbuminemia OMIM:618805
Nephrotic Syndrome, Type 14
Ataxia, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Cog4-Cdg
Hypercholesterolemia, Ataxia, Irritability ORPHA:263501
Laron Syndrome
Hypercholesterolemia, Hypoglycemia ORPHA:633
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabetes mellitus, ... OMIM:604367
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Waddling gait, Hypophosphatemia OMIM:156400
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypoglycemia, Type II diabetes mellitus, Hypokalemia, Hyperbilirubin... ORPHA:88673
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Congenital Generalized Lipodystrophy
Insulin resistance, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus, Increased C-pe... ORPHA:528
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Hyperuricemia, Increased circulating ren... ORPHA:95409
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Aminoaciduria, Calcinosis, Hypophosphatemia OMIM:239200
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Abnormal circulating lipid c... ORPHA:2298
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Cystinuria, Hypocalcemia OMIM:606407
Omenn Syndrome
Hypoproteinemia OMIM:603554
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Cholera
Lethargy, Hyponatremia, Hypoglycemia, Hypokalemia, Irritability, Hypocalcemia, Abnormal blood ion... ORPHA:173
Hereditary Pheochromocytoma-Paraganglioma
Panic attack, Hypercalcemia, Episodic paroxysmal anxiety ORPHA:29072
Autosomal Dominant Hypocalcemia
Writer's cramp, Hypomagnesemia, Emotional lability, Hypocalcemia, Anxiety, Depression, Hyperphosp... ORPHA:428
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Mandibuloacral Dysplasia
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... ORPHA:2457
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Hyperuricemia, Type I diabetes mellitus,... ORPHA:85138
Leptospirosis
Hyperproteinemia ORPHA:509
Fibrous Dysplasia Of Bone
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia, Diabetes mellitus, Antalgi... ORPHA:249
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Atte... ORPHA:90674
Smith-Magenis Syndrome
Gait disturbance, Self-injurious behavior, Hypercholesterolemia, Hypertriglyceridemia, Anxiety, A... ORPHA:819
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hypokalemia ORPHA:681
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Mody
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... ORPHA:552
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level, Hypoglycemia OMIM:131100
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Johanson-Blizzard Syndrome
Hypoproteinemia, Diabetes mellitus ORPHA:2315
Monosomy 13Q34
Infantile hypercalcemia, Insulin resistance ORPHA:96168
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal... ORPHA:1578
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Neonatal insulin-dependent dia... ORPHA:1667
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hypoglycemia, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Glucagonoma
Hypercalcemia, Increased circulating cortisol level, Steatorrhea, Diabetes mellitus, Depression ORPHA:97280
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Apathy, Irritability, Anxiety, Depression ORPHA:247691
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, H... ORPHA:79240
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Hypophosphatemia, Irritability, Hypocalcemia, D... ORPHA:289157
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Steatorrhea, Hypoalbuminemia ORPHA:2070
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... ORPHA:230
Congenital Enterovirus Infection
Hypoalbuminemia, Irritability, Hyperammonemia ORPHA:292
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... ORPHA:412
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... OMIM:619662
Symptomatic Form Of Hemochromatosis Type 1
Abnormality of iron homeostasis, Hyperglycemia, Apathy, Elevated transferrin saturation, Increase... ORPHA:465508
Mastocytosis
Hypercalcemia ORPHA:98292
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
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, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Celiac Disease, Susceptibility To, 1
Ataxia, Steatorrhea, Type I diabetes mellitus, Hypocalcemia, Anxiety, Depression OMIM:212750
Leishmaniasis
Hypoalbuminemia ORPHA:507
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Pyruvate Carboxylase Deficiency
Dystonia, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Increased leve... ORPHA:3008
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypoalbu... OMIM:619055
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Irritability, Hypocal... ORPHA:79444
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Chédiak-Higashi Syndrome
Hypoproteinemia, Hyponatremia, Gait disturbance, Increased circulating ferritin concentration, In... ORPHA:167
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Pheochromocytoma
Hypercalcemia OMIM:171300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... ORPHA:89842
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Vipoma
Hypercalcemia, Increased circulating cortisol level, Diabetes mellitus, Hypokalemia ORPHA:97282
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hyperglycemia, Insulin-resistant diabetes mellitus, Hype... OMIM:151660
Somatostatinoma
Hypercalcemia, Increased circulating cortisol level, Steatorrhea, Diabetes mellitus ORPHA:97283
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Emotional lability, Increased blood urea nitrogen OMIM:223900
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Apathy, Hyperuricemia, Hyperammonemia, Ataxia ORPHA:134
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia ORPHA:90065
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperchol... ORPHA:264580
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Fasting hyper... ORPHA:276152
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Hypocalcemia OMIM:618476
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Hypoketotic hypoglycemia, Tip-toe gait, Hypocalcemia ORPHA:746
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Fasting hypoglycemia, Hypercholesterolemia, H... ORPHA:370
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypophosphatemia, Hypocalcemia ORPHA:93160
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Sitosterolemia 1
Hypercholesterolemia, Elevated circulating sitosterol concentration, Hyperapobetalipoproteinemia OMIM:210250
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:278000
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia ORPHA:439232
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Intraalveolar... ORPHA:470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia OMIM:235400
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Dysmetria, Steppage gait, Abnormal ... ORPHA:14
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Aicardi-Goutieres Syndrome 9
Dystonia, Self-mutilation, Irritability, Hypoalbuminemia OMIM:619487
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level, Depression OMIM:615954
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Zollinger-Ellison Syndrome
Hypercalcemia, Increased glucagon level, Increased circulating cortisol level ORPHA:913
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Ataxia OMIM:249310
Visceral Steatosis, Congenital
Lethargy, Hypoglycemia, Hypocalcemia OMIM:228100
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Anxiety ORPHA:653
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99880
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia ORPHA:2479
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:143
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Athetosis, Type I diabetes mellitus, Glycosuria OMIM:618857
Pierson Syndrome
Hypoproteinemia OMIM:609049
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Generalized aminoaciduria, Impaired glucose tolerance, Hypophosphatemia, Gl... ORPHA:2088
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Oncogenic Osteomalacia
Gait disturbance, Hypophosphatemia, Hypocalcemia ORPHA:352540
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoglycemia, Hypoalbuminemia OMIM:618329
Necrotizing Enterocolitis
Hyperglycemia, Hyponatremia, Abnormal glucose homeostasis, Lethargy ORPHA:391673
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Ataxia, Hypoalbuminemia OMIM:212065
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Irritability, Hypocal... ORPHA:79443
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypoglycemia, Hypokalemia, Elevated circulating creatine kinase concentration, E... ORPHA:99826
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Primary hypercortisolism, Increased circulating cortisol level, Depression, Lethargy ORPHA:652
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Decreased HDL cholesterol concentration, Decreased... ORPHA:85450
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Hyperins... OMIM:608612
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hypoalbuminemia OMIM:617303
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Elevated circulating creatinine concentration, Impaired glu... OMIM:137920
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hypocalcemia, Hypomagnesemia, Type I diabetes mellitus, Hypoalbuminem... ORPHA:37042
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose ... OMIM:248370
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Ataxia, Hypoglycemia OMIM:220111
Ethylene Glycol Poisoning
Hyperkalemia, Ataxia, Euphoria, Hypocalcemia ORPHA:31826
Williams Syndrome
Hypercalcemia, Gait disturbance, Type II diabetes mellitus, Gait imbalance, Abnormal circulating ... ORPHA:904
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia ORPHA:79324
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia ORPHA:437
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine OMIM:618885
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Steinert Myotonic Dystrophy
Gait disturbance, Insulin resistance, Aggressive behavior, Falls, Hypercholesterolemia, Inability... ORPHA:273
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Hypoalbuminemia OMIM:235510
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... ORPHA:90363
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Self-injurious behavior, Hypophosphatemia, Hypercholesterolemia, Atten... ORPHA:534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Xanthelasma, Hypertriglyceride... ORPHA:79259
Williams-Beuren Syndrome
Hypercalcemia, Gait imbalance, Glucose intolerance, Diabetes mellitus, Anxiety, Attention deficit... OMIM:194050
Velocardiofacial Syndrome
Mood swings, Aggressive behavior, Hypocalcemia OMIM:192430
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Galloway-Mowat Syndrome 1
Dystonia, Ataxia, Hypoalbuminemia OMIM:251300
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia ORPHA:73224
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Aminoacidur... OMIM:309000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Hypokalemia, Insulin resistance, Primary hyperaldos... ORPHA:358
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Steatorrhea, Hypertriglyceridemia ORPHA:275761
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Sotos Syndrome
Hypercalcemia, Aggressive behavior, Neonatal hypoglycemia, Anxiety, Attention deficit hyperactivi... ORPHA:821
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Mitchell-Riley Syndrome
Hyperglycemia, Hyperbilirubinemia OMIM:615710
Donohue Syndrome
Hyperglycemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia OMIM:246200
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Ataxia, Hypocalcemia, Hyperphos... ORPHA:466650
Pearson Syndrome
Hypokalemia, Hypophosphatemia, Glycosuria, Hyperalaninemia, Hypomagnesemia, Ataxia, Steatorrhea, ... ORPHA:699
Primary Sclerosing Cholangitis
Depression, Type I diabetes mellitus, Hypoalbuminemia ORPHA:171
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insulin-resistant diabetes mellitus, Diabe... ORPHA:769
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hypoalbuminemia ORPHA:505248
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Hyperphosphatemia, Diabetes mellitus, Hypocalcemia ORPHA:280651
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Short Syndrome
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperglycemia OMIM:269880
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Self-injurious behavior, Hyperglycemia, Aggressive behavior, Emotio... ORPHA:293987
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Sarcoidosis
Hypercalcemia ORPHA:797
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Diabetes mellitus, Hypocalcemia ORPHA:544482
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:449395
22Q11.2 Deletion Syndrome
Hypocalcemia, Anxiety, Attention deficit hyperactivity disorder, Depression, Bipolar affective di... ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Scorpion Envenomation
Hypokalemia, Hyperglycemia, Glycosuria, Increased circulating NT-proBNP concentration, Ataxia, In... ORPHA:466677
Digeorge Syndrome
Attention deficit hyperactivity disorder, Bipolar affective disorder, Hypocalcemia OMIM:188400
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Hypoglycemia, Diabetes mellitus OMIM:609069
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Leprechaunism
Fasting hypoglycemia, Hypokalemia, Insulin resistance, Recurrent infantile hypoglycemia, Hyperald... ORPHA:508
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... OMIM:619534
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91500
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Steatorrhea ORPHA:440713
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Falls, Hypocalcemia, Hypomagnesemia, Low frustration tolerance, Tip-toe gait, Broad-based gait, I... OMIM:619503
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Ataxia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Atypical Werner Syndrome
Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Hyperglycemia, Glycosuria, Fastin... ORPHA:79474
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Diabetes mellitus, Hypocalcemia OMIM:243800
Charge Syndrome
Self-mutilation, Hypocalcemia OMIM:214800
Pmm2-Cdg
Insulin resistance, Reduced thyroxin-binding globulin, Ataxia, Hypoalbuminemia, Hyperinsulinemia ORPHA:79318
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Striate Palmoplantar Keratoderma
ORPHA:50942
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
OMIM:148700

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 Dsg1c

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 Dsg1c.

No publications found that use IMPC mice or data for Dsg1c.

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MGI Allele Allele Type Produced
Dsg1cem1(IMPC)Mbp Exon Deletion Mice, Tissue

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