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Gene: Dsg1c MGI:2664358

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Gene Summary

Name:
desmoglein 1 gamma
Synonyms:
Dsg6

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating serum albumin level Dsg1cem1(IMPC)Mbp HOM Early adult 1.80×10-05
increased circulating cholesterol level Dsg1cem1(IMPC)Mbp HOM Early adult 2.21×10-07
decreased thigmotaxis Dsg1cem1(IMPC)Mbp HOM Early adult 1.44×10-11
increased circulating creatinine level Dsg1cem1(IMPC)Mbp HOM Early adult 2.20×10-08
increased circulating calcium level Dsg1cem1(IMPC)Mbp HOM Early adult 5.66×10-06
increased circulating total protein level Dsg1cem1(IMPC)Mbp HOM Early adult 2.52×10-06
abnormal behavior Dsg1cem1(IMPC)Mbp HOM Early adult 2.00×10-11
increased circulating HDL cholesterol level Dsg1cem1(IMPC)Mbp HOM Early adult 1.96×10-05
decreased anxiety-related response Dsg1cem1(IMPC)Mbp HOM Early adult 1.77×10-06
decreased locomotor activity Dsg1cem1(IMPC)Mbp HOM Early adult 4.20×10-45

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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

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X-ray

XRay Images Whole Body Lateral Orientation

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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
Hypoalbuminemia, 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
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Adamantinoma
Hypercalcemia ORPHA:55881
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera... OMIM:620211
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperl... ORPHA:247585
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Myopathy, Tubular Aggregate, 2
Falls, Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Increased circulating ferritin concentration, Increased total bilirubin,... OMIM:267700
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest... ORPHA:64753
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre... OMIM:300539
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Hypophosphatasia
Hypercalcemia, Irritability ORPHA:436
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hypercalcemia, Infantile, 1
Lethargy, Hypercalcemia OMIM:143880
Rhabdoid Tumor
Hypercalcemia, Irritability ORPHA:69077
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Limb ataxia, Gait ataxia, Elevated circulating creatine kinase concentration, Lo... OMIM:208920
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Aggressive behavior, Decreased serum cre... OMIM:612736
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Diarrhea 13
Hypoalbuminemia OMIM:620357
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Polydipsia OMIM:619468
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Increased total bilirubin, Increased circulating ferritin concentration,... OMIM:603553
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu... OMIM:277460
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Anorexia ORPHA:2494
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Morgagni-Stewart-Morel Syndrome
Depression, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Irritability, Anorexia OMIM:241500
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Cog4-Cdg
Hypercholesterolemia, Irritability, Ataxia ORPHA:263501
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Depression OMIM:600740
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Smith-Magenis Syndrome
Head-banging, Onychotillomania, Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertrigly... OMIM:182290
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Polydipsia OMIM:617994
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Congenital Disorder Of Glycosylation, Type Ij
Aggressive behavior, Hypoproteinemia OMIM:608093
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Self-mutilation, Motor stereotypy, Attention deficit hyperactivity disorder, Aggress... ORPHA:476126
Lesch-Nyhan Phenotype With Normal Hgprt
Self-mutilation, Choreoathetosis, Hyperuricemia OMIM:308950
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypocalcemic seiz... ORPHA:36913
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Lethargy, Anorexia, Hypercalcemia ORPHA:199299
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Dengue Fever
Lethargy, Hypoproteinemia ORPHA:99828
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia ORPHA:79320
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait OMIM:618805
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
2P21 Microdeletion Syndrome
Cystinuria, Hypocalcemia ORPHA:163693
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Salt craving, Anorexia, Hyperk... ORPHA:95409
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Waddling gait OMIM:156400
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Leptospirosis
Hyperproteinemia, Anorexia ORPHA:509
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Steatorrhea, Dysphagia, Hypoalbuminemia ORPHA:2070
Immunodeficiency 27A
Hypoalbuminemia, Anorexia OMIM:209950
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Hydroxyprolinuria OMIM:602080
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypocalcemic seiz... ORPHA:94089
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Abnormal circulating porphyrin co... ORPHA:100924
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Laron Syndrome
Hypercholesterolemia ORPHA:633
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia, Irritability OMIM:613070
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Depression, Abnormal circulating thyroglobulin concentration, Lethar... ORPHA:90674
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Leishmaniasis
Hypoalbuminemia, Anorexia ORPHA:507
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Hypotonia-Cystinuria Syndrome
Polyphagia, Cystinuria, Hypocalcemia OMIM:606407
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Smith-Magenis Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Gait disturbance, Hypercholest... ORPHA:819
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Difficulty walking, Hypocalcemia, Irritability, Hypophosphatemia, Hypo... OMIM:264700
Addison Disease
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Salt craving, Anorexia, Hyperk... ORPHA:85138
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Reni Syndrome
Hypoalbuminemia, Ataxia, Hypertriglyceridemia OMIM:617575
Lysinuric Protein Intolerance
Hyperlysinuria, Intraalveolar phospholipid accumulation, Increased circulating ferritin concentra... ORPHA:470
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Cholera
Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Lethargy, Abnormal blood ion concentration ORPHA:173
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anorexia, Hypocalcemia, Hypomagnesemia OMIM:175500
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Hypercholesterolemia, Ataxia ORPHA:2479
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Difficulty walking, Antalgic gait, Hypophosphatemia, Hyperc... ORPHA:249
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase ORPHA:99845
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Wolcott-Rallison Syndrome
Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia ORPHA:1667
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia, Irritability ORPHA:292
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Juvenile Nephropathic Cystinosis
Hypouricemia, Aminoaciduria, Polydipsia, Elevated circulating creatinine concentration, Hypocalce... ORPHA:411634
Pheochromocytoma
Hypercalcemia OMIM:171300
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem... OMIM:601678
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Neuhauser Syndrome
Hypercholesterolemia, Dysphagia, Ataxia OMIM:249310
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use, Hypercholesterolemia ORPHA:90065
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Polydipsia OMIM:266900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Emotional lability, Increased blood urea nitrogen OMIM:223900
Omenn Syndrome
Hypoproteinemia OMIM:603554
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Difficulty walking, Hypophosphatemia, Hypocalcemia OMIM:600081
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Glucagonoma
Depression, Increased circulating cortisol level, Anorexia, Steatorrhea, Hypercalcemia ORPHA:97280
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Unsteady gait, Gait ataxia, Dysphagia OMIM:254900
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Inability to walk, Hypertriglyceridemia, Hyponatrem... ORPHA:167
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Ppoma
Hypercalcemia, Increased circulating cortisol level, Anorexia ORPHA:97278
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Vipoma
Hypokalemia, Hypercalcemia, Increased circulating cortisol level, Anorexia ORPHA:97282
Somatostatinoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level, Anorexia ORPHA:97283
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Lethargy, Hypertyrosinemia, Conjugated h... OMIM:617156
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Steatorrhea OMIM:602579
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Difficulty walking, Hypocalcemia, Irritability, Hypophosphatemia, Hypo... ORPHA:289157
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia ORPHA:428
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Abetalipoproteinemia
Hypoalbuminemia, Ataxia, Broad-based gait, Hypotriglyceridemia, Hypocholesterolemia, Abnormal cir... ORPHA:14
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Gait disturbance, Hypocalcemia ORPHA:93160
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Difficulty walking, Inappropriate laughter, Hypocalcemia, Ataxia OMIM:618476
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Depression, Irritability ORPHA:247691
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Inability to walk, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Grfoma
Hypercalcemia, Increased circulating cortisol level, Anorexia ORPHA:97261
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration OMIM:618885
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Irritability, Hypokalemia, Hyponatremia, Unconjuga... ORPHA:90038
Oncogenic Osteomalacia
Hypophosphatemia, Gait disturbance, Hypocalcemia ORPHA:352540
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Celiac Disease, Susceptibility To, 1
Steatorrhea, Depression, Hypocalcemia, Ataxia OMIM:212750
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Timothy Syndrome
Hypocalcemia OMIM:601005
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Pseudohypoparathyroidism Type 1C
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Polyphagia, Calci... ORPHA:79444
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Multiple Endocrine Neoplasia Type 1
Depression, Increased circulating cortisol level, Primary hypercortisolism, Lethargy, Anorexia, H... ORPHA:652
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level OMIM:301110
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Dysmetria, Ataxia, Steatorrhea OMIM:212065
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Elevated circulating alpha-fetopr... OMIM:251880
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra... ORPHA:85450
Prader-Willi Syndrome
Self-injurious behavior, Decreased HDL cholesterol concentration, Polyphagia, Attention deficit h... OMIM:176270
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Self-mutilation, Irritability OMIM:619487
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Tip-toe gait, Hypocalcemia ORPHA:746
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level ORPHA:913
Congenital Disorder Of Glycosylation, Type Ig
Lethargy, Hypocalcemia OMIM:607143
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Liver Disease, Severe Congenital
Aminoaciduria, Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hy... OMIM:619991
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Oligomeganephronia
Elevated circulating creatinine concentration, Polydipsia ORPHA:2260
Ethylene Glycol Poisoning
Hypocalcemia, Addictive alcohol use, Euphoria, Ataxia, Hyperkalemia ORPHA:31826
Pseudohypoparathyroidism Type 1A
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Polyphagia, Calci... ORPHA:79443
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:619055
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Polydipsia, H... OMIM:248250
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Inability to walk OMIM:617303
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration, Dysphagia ORPHA:85443
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Williams Syndrome
Depression, Abnormal circulating lipid concentration, Gait imbalance, Dysmetria, Elevated circula... ORPHA:904
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia, Irritability OMIM:259720
Velocardiofacial Syndrome
Aggressive behavior, Emotional lability, Hypocalcemia OMIM:192430
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Hyperactivity OMIM:235510
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Self-injurious behavior, Depression, Hyperaldosteronism, Hyponatremia, Hypokalemia... ORPHA:534
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase co... OMIM:309000
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Abnormal fear-induced behavior, Emotional lability OMIM:219090
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro... OMIM:222470
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Wilson Disease
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Hyperbilirubinemia, Increased circulating copper co... OMIM:277900
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Pierson Syndrome
Hypoproteinemia OMIM:609049
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Ataxia OMIM:251300
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Emotional lability, Hypocalcemia, H... OMIM:620330
Steinert Myotonic Dystrophy
Depression, Falls, Oral-pharyngeal dysphagia, Inability to walk, Emotional lability, Obsessive-co... ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Gait ataxia, Dysmetria, Hypercholesterolemia, Hypertriglyceridemia, Dysphagia, Dysdiadochokinesis OMIM:606721
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Lethargy, At... ORPHA:466650
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Ataxia, Steatorrhea... ORPHA:699
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia, Agitation ORPHA:340
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Abnormal cir... ORPHA:2298
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Williams-Beuren Syndrome
Attention deficit hyperactivity disorder, Gait imbalance, Hypercalcemia, Obsessive-compulsive trait OMIM:194050
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Inability to walk ORPHA:505248
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Gitelman Syndrome
Hypermagnesemia, Polydipsia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Salt craving, Primary hyp... ORPHA:358
Sarcoidosis
Hypercalcemia ORPHA:797
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Irritability, Hypoalbuminemia ORPHA:2331
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Primary Sclerosing Cholangitis
Hypoalbuminemia, Depression ORPHA:171
Sotos Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Hypercalcemia ORPHA:821
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Se... OMIM:270400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Anorexia, Hypernatremia, Hypoalbuminemia OMIM:619381
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:449395
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Falls, Tip-toe gait, Hypomagnesemia, Bruxism, Stereotypical body rocking, Hypoc... OMIM:619503
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Hennekam Syndrome
Hypocalcemia ORPHA:2136
22Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Depression, Hypocalcemia ORPHA:567
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Digeorge Syndrome
Attention deficit hyperactivity disorder, Hypocalcemia OMIM:188400
Charge Syndrome
Dysphagia, Hypocalcemia, Self-mutilation OMIM:214800
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277
Pmm2-Cdg
Hypoalbuminemia, Ataxia, Reduced thyroxin-binding globulin ORPHA:79318
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
OMIM:148700
Striate Palmoplantar Keratoderma
ORPHA:50942

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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