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Gene: Nacad MGI:3603030

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Gene Summary

Name:
NAC alpha domain containing
Synonyms:
mKIAA0363

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

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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 Forepaw

16 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Legacy Phenotype Associated Images
Nacadtm1(KOMP)Wtsi
HOM, Male, WTSI
Nacadtm1(KOMP)Wtsi
HOM, Male, WTSI
Nacadtm1(KOMP)Wtsi
HOM, Male, WTSI
Nacadtm1(KOMP)Wtsi
HOM, Female, WTSI
Nacadtm1(KOMP)Wtsi
HOM, Female, WTSI

View all 92 images

Nacadtm1(KOMP)Wtsi
persistence of hyaloid vascular system, right eye, HOM, Female, WTSI
Nacadtm1(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Nacadtm1(KOMP)Wtsi
corneal vascularization, HOM, Female, WTSI
Nacadtm1(KOMP)Wtsi
back skin, HOM, Female, WTSI

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
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circulating cortisol... ORPHA:199296
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
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
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Hypernatremia OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypernatremia OMIM:125800
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal ... ORPHA:556037
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... OMIM:177735
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... ORPHA:3008
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... OMIM:264350
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Reduced circulating growth hormone concentration OMIM:615508
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:616033
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, An... OMIM:615926
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal ... ORPHA:556030
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Hypernatremia OMIM:620423
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin ... OMIM:203400
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia, Reduced blood ... OMIM:300539
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... ORPHA:91354
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration ORPHA:446
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Pancreatic isle... ORPHA:263455
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypernatremia ORPHA:223
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galactitol in plasma, Hy... ORPHA:79237
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub... OMIM:613986
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Abnormal ci... ORPHA:2298
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus ORPHA:178029
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hype... ORPHA:90790
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h... ORPHA:94086
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen, Diabetes mellitus OMIM:613845
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi... OMIM:214700
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Generalized Pseudohypoaldosteronism Type 1
Abnormal circulating aldosterone, Increased circulating renin level, Hyponatremia, Hyperkalemia, ... ORPHA:171876
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocorticotropin de... ORPHA:199299
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hypertriglyceridemia ORPHA:363400
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Abnor... ORPHA:71212
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Acute Adrenal Insufficiency
Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primary adrenal insuffici... ORPHA:95409
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hypercholesterolemia, Hypert... ORPHA:528
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Recurrent hypoglycemia, Decreased response t... ORPHA:293978
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... OMIM:246200
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Elevated circulatin... OMIM:617872
Cholera
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Addison Disease
Thymoma, Type I diabetes mellitus, Androgen insufficiency, Hypoglycemia, Adrenal calcification, I... ORPHA:85138
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... OMIM:231100
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, A... ORPHA:289548
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hyperbilir... ORPHA:1667
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Mirage Syndrome
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia, Hypergonadot... OMIM:617053
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, A... ORPHA:168558
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Mpi-Cdg
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Familial Hypoaldosteronism
Adrenal insufficiency, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Incre... ORPHA:427
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Hartsfield Syndrome
Gonadotropin deficiency, Diabetes insipidus, Hypernatremia OMIM:615465
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... OMIM:600955
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Snakebite Envenomation
Hyponatremia, Hypopituitarism ORPHA:449285
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... ORPHA:769
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Glycosuria ORPHA:97362
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Whipple Disease
Hyponatremia, Hypothyroidism, Insulin resistance ORPHA:3452
Juvenile Nephropathic Cystinosis
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Alg8-Cdg
Hyponatremia ORPHA:79325
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Alg12-Cdg
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Decreased serum insul... ORPHA:79324
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
Porphyria Variegata
Hyponatremia, Inappropriate antidiuretic hormone secretion, Abnormal circulating porphyrin concen... ORPHA:79473
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating creatine kinase concentration, Hyperinsulinemia, Hypertr... OMIM:613327
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... OMIM:248370
Shigellosis
Hyponatremia, Abnormal blood ion concentration, Hypoglycemia ORPHA:810
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Infant Botulism
Hyponatremia ORPHA:178478
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... ORPHA:508
Legionnaires Disease
Hyponatremia ORPHA:549
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Bartter Syndrome Type 4
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin syst... ORPHA:89938
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Glycosuria, Hypomagnesemia, Hyp... OMIM:219800
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Prader-Willi Syndrome
Precocious puberty, Decreased HDL cholesterol concentration, Decreased response to growth hormone... OMIM:176270
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus OMIM:616026
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Holoprosencephaly
Hypoglycemia, Panhypopituitarism, Hyponatremia, Diabetes insipidus, Diabetes mellitus, Anterior h... ORPHA:2162
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis OMIM:617913
Japanese Encephalitis
Hyponatremia, Inappropriate antidiuretic hormone secretion ORPHA:79139
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia ORPHA:544482
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Primary adrenal insufficiency, Hyponatremia, Hypercholesterolemia, Hypertr... ORPHA:275761
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... ORPHA:534
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Familial Dysautonomia
Hyponatremia ORPHA:1764
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration OMIM:620185
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Hypertriglyceridemia, Diabetes mellitus, Insulin-resist... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Insul... OMIM:269700
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... ORPHA:79474
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... OMIM:619991
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:99228
Monosomy X
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:99226
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Pmm2-Cdg
Hypoalbuminemia, Insulin resistance, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:79318
Alström Syndrome
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... 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) Nacadtm1(KOMP)Wtsi