Gene Summary

Name:
NAC alpha domain containing
Synonyms:
mKIAA0363

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
increased circulating insulin level Nacadtm1(KOMP)Wtsi HOM Early adult 9.27×10-05
decreased circulating glucose level Nacadtm1(KOMP)Wtsi HOM Early adult 1.90×10-06
increased circulating sodium level Nacadtm1(KOMP)Wtsi HOM   Early adult 2.29×10-05
decreased body length Nacadtm1(KOMP)Wtsi HOM Early adult 2.79×10-05

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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 Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Legacy Phenotype Associated Images

View all 92 images

Human diseases caused by Nacad mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... OMIM:606762
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... ORPHA:35878
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... OMIM:614736
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency OMIM:240200
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi... ORPHA:199296
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia ORPHA:329249
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... ORPHA:276580
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... OMIM:615751
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Increased circulating 18-hydroxycortiso... OMIM:610600
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314811
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypernatremia OMIM:125800
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... ORPHA:280356
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... ORPHA:3008
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556037
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:177735
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:264350
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... OMIM:615926
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Reduced circulating growth hormone concentration, Hypoalbuminemia OMIM:615508
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Decreased circulating aldosterone level, Increased circulating renin ... OMIM:203400
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos... OMIM:300539
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Pancreatic islet-cell hyperplasi... ORPHA:263455
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypernatremia ORPHA:223
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... ORPHA:90791
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in ... ORPHA:79237
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Hyperkalem... ORPHA:90790
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus ORPHA:178029
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul... ORPHA:94086
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating leptin concentration, Abnormal cir... ORPHA:2298
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen OMIM:613845
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... OMIM:214700
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... ORPHA:171876
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95513
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95512
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentra... OMIM:201810
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Adrenal hypoplas... ORPHA:95409
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... ORPHA:293978
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin resistance, Hyper... ORPHA:528
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Addison Disease
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Adrenal cal... ORPHA:85138
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... OMIM:246200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... OMIM:615160
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia ORPHA:173
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... ORPHA:289548
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... ORPHA:91355
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Central hypothyroidis... ORPHA:1667
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... ORPHA:168558
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... OMIM:231100
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adr... OMIM:617053
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Adrenal insufficiency, Increased circulating renin level, Decreased c... ORPHA:427
Mpi-Cdg
Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Hartsfield Syndrome
Hypernatremia, Gonadotropin deficiency, Diabetes insipidus OMIM:615465
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Snakebite Envenomation
Hyponatremia, Hypopituitarism ORPHA:449285
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:613090
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:618183
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious pub... ORPHA:90794
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Glycosuria ORPHA:97362
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Hypo... ORPHA:411634
Whipple Disease
Hyponatremia, Insulin resistance, Hypothyroidism ORPHA:3452
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Alg8-Cdg
Hyponatremia ORPHA:79325
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... ORPHA:79086
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Elevated hemoglobin A... OMIM:616113
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Recurrent hypoglycemia, Hypoalbuminem... ORPHA:79324
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hype... OMIM:248370
Porphyria Variegata
Inappropriate antidiuretic hormone secretion, Abnormal circulating porphyrin concentration, Hypon... ORPHA:79473
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase ... OMIM:613327
Shigellosis
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration ORPHA:810
Infant Botulism
Hyponatremia ORPHA:178478
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsu... ORPHA:2126
Leprechaunism
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, In... ORPHA:508
Legionnaires Disease
Hyponatremia ORPHA:549
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... OMIM:131100
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Reduced blood urea nitrogen, Hypophosphatemia, H... OMIM:219800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Hypophosphatemia OMIM:616026
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:602522
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... ORPHA:89938
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Hypoglycemia, Panhypopituitarism, Anterior hypopituitarism, Diab... ORPHA:2162
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Japanese Encephalitis
Inappropriate antidiuretic hormone secretion, Hyponatremia ORPHA:79139
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Primary adrenal insufficiency, Hyperka... ORPHA:275761
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia ORPHA:544482
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Hypophosphatemia, Abnormal circulating calcium-... ORPHA:534
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Familial Dysautonomia
Hyponatremia ORPHA:1764
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resist... OMIM:608594
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Hyperinsulinemia, Insulin-... OMIM:269700
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Atypical Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating leptin concentration, Insulin-resis... ORPHA:79474
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating thyroid ... OMIM:619991
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... ORPHA:64
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968

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 Nacad

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 Nacad.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Nacadtm1(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Nacadtm1(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)