Gene Summary

Name:
NADH:ubiquinone oxidoreductase core subunit S1
Synonyms:
9930026A05Rik,  5830412M15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hypoactivity Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 6.78×10-07
decreased circulating triglyceride level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 1.77×10-06
increased circulating lipase level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 3.82×10-06
preweaning lethality, complete penetrance Ndufs1tm1b(EUCOMM)Hmgu HOM   Early adult 4.24×10-05
increased circulating calcium level Ndufs1tm1b(EUCOMM)Hmgu HET   Early adult 4.83×10-05
increased circulating sodium level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 6.51×10-07
decreased vertical activity Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 3.08×10-05
increased circulating creatinine level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 4.98×10-06
increased circulating phosphate level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 9.23×10-09

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 50% (1 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Penis  Wholemount images heterozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Sublingual gland  Wholemount images heterozygote 0.0% (0 of 2)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Urinary bladder  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
White adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Wholemount

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ndufs1 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 Ndufs1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Ataxia OMIM:618226
Isolated Complex I Deficiency
Increased serum pyruvate, Lethargy, Ataxia ORPHA:2609
Leigh Syndrome With Leukodystrophy
Progressive cerebellar ataxia, Dystonia ORPHA:255241

The table below shows human diseases predicted to be associated to Ndufs1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia OMIM:616949
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Hyponatremia, Increased circulating renin level, Incr... OMIM:610600
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Azotemia, Familial
Azotemia OMIM:109160
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Hyperkalemia, A... ORPHA:556037
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated circulating creatine kinase co... ORPHA:94093
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia OMIM:618426
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia OMIM:304800
Pyruvate Carboxylase Deficiency
Dystonia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutami... ORPHA:3008
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Hyperkalemia, A... ORPHA:556030
Central Diabetes Insipidus
Lethargy, Hyponatremia ORPHA:178029
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyperaldosteronism, Hyponatremia, Increased circulating renin level OMIM:177735
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Lethargy OMIM:143880
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Gait disturbance, Incre... OMIM:616516
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism OMIM:264350
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration, Aminoaciduria OMIM:300555
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Hyperkalemic Periodic Paralysis
Gait disturbance, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, ... ORPHA:682
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Autosomal Dominant Hypocalcemia
Writer's cramp, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Hypophosphatasia
Hypercalcemia ORPHA:436
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia ORPHA:199296
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia OMIM:214700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Familial Hypoaldosteronism
Hyperkalemia, Lethargy, Hyponatremia, Increased circulating renin level ORPHA:427
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level, Glucocortocoid-insensitive primary... ORPHA:171876
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Waddling gait OMIM:156400
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalcemi... ORPHA:79444
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Porphyria Due To Ala Dehydratase Deficiency
Difficulty walking, Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythro... ORPHA:100924
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide lev... ORPHA:157215
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria OMIM:613388
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Late-Onset Isolated Acth Deficiency
Lethargy, Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Hypercalcemia ORPHA:199299
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia, Aminoaciduria OMIM:239200
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia OMIM:613845
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Aminoaciduria OMIM:618913
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia, Aminoaciduria OMIM:134600
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Lethargy, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalcemi... ORPHA:79443
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Aminoaciduria OMIM:308990
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Cholera
Hypocalcemia, Lethargy, Hyponatremia, Abnormal blood ion concentration, Hypokalemia ORPHA:173
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Increased circulating renin le... ORPHA:95409
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypokalemia, Generalized aminoaciduria OMIM:227810
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyperchloriduria OMIM:613090
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Wolcott-Rallison Syndrome
Difficulty walking, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia, Hyperammonemia ORPHA:1667
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hyponatremia OMIM:300200
Hartsfield Syndrome
Hypernatremia OMIM:615465
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Hypercalcemia, Attention deficit hyperactivity disorder ORPHA:476126
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Gait disturbance ORPHA:93160
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Hyperactivity ORPHA:280651
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Cystinosis
Hypophosphatemia, Gait disturbance, Hypokalemia, Aminoaciduria ORPHA:213
Necrotizing Enterocolitis
Lethargy, Hyponatremia ORPHA:391673
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Fibrous Dysplasia Of Bone
Hypophosphatemia, Increased circulating cortisol level, Difficulty walking, Hypercalcemia, Antalg... ORPHA:249
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Snakebite Envenomation
Hyponatremia ORPHA:449285
Hereditary Fructose Intolerance
Hypermagnesemia, Lethargy, Hyperuricemia, Hypophosphatemia ORPHA:469
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Gait disturbance ORPHA:352540
Addison Disease
Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Increased circulating renin le... ORPHA:85138
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Difficulty walking, Hypophosphatemia OMIM:600081
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Difficulty walking, Generalized aminoaciduria, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyperchloriduria OMIM:602522
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia ORPHA:99878
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ataxia OMIM:618476
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Difficulty walking, Generalized aminoaciduria, Hypocalcemic seizures ORPHA:289157
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria OMIM:606407
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Increased circulating free fatty acid level, Elevated ci... ORPHA:26793
Legionnaires Disease
Hyponatremia, Ataxia ORPHA:549
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hyperaldosteronism, Hypokale... OMIM:601678
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Difficulty walking, Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia, Increased circulating renin level ORPHA:90791
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Ataxia, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Mastocytosis
Hypercalcemia ORPHA:98292
Vitamin D-Dependent Rickets, Type 2A
Difficulty walking, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Pheochromocytoma
Hypercalcemia OMIM:171300
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia ORPHA:90790
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Whipple Disease
Hyponatremia, Ataxia ORPHA:3452
Timothy Syndrome
Hypocalcemia OMIM:601005
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Infant Botulism
Hyponatremia ORPHA:178478
Familial Glucocorticoid Deficiency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia ORPHA:361
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Familial Dysautonomia
Gait disturbance, Hyponatremia, Ataxia ORPHA:1764
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia, Generalized aminoaciduria ORPHA:2088
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia OMIM:175500
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:99880
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Parathyroid Carcinoma
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:143
Chédiak-Higashi Syndrome
Inability to walk, Increased circulating ferritin concentration, Hypoproteinemia, Gait disturbanc... ORPHA:167
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Vipoma
Hypokalemia, Hypercalcemia, Increased circulating cortisol level ORPHA:97282
Adenohypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95512
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Hyponatremia ORPHA:293978
Fructose Intolerance, Hereditary
Hypophosphatemia, Lethargy, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricemia, Bicarbona... OMIM:229600
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Somatostatinoma
Hypercalcemia, Increased circulating cortisol level, Steatorrhea ORPHA:97283
Histidinemia
Histidinuria, Hyperhistidinemia, Hyperactivity ORPHA:2157
Visceral Steatosis, Congenital
Hypocalcemia, Lethargy OMIM:228100
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level ORPHA:95613
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Panhypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95513
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Lethargy, Toe walking ORPHA:746
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Hyperaldosteronism, Hypokalemia, Hypochloremia, ... ORPHA:89938
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Generalized aminoaciduria, Hypophosph... ORPHA:3337
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Glucagonoma
Hypercalcemia, Increased circulating cortisol level, Steatorrhea ORPHA:97280
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level ORPHA:913
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Hyponatremia, Increased circulating renin level, Hyperkalem... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Hyponatremia, Increased circulating renin level, Hyperkalem... ORPHA:289548
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Xanthelasma, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Japanese Encephalitis
Dystonia, Hyponatremia ORPHA:79139
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Sheehan Syndrome
Decreased circulating cortisol level, Hyponatremia ORPHA:91355
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Dent Disease 1
Hypophosphatemia, Aminoaciduria OMIM:300009
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Shigellosis
Hyponatremia, Abnormal blood ion concentration ORPHA:810
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Opsismodysplasia
Hypophosphatemia OMIM:258480
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany, Hyperaldosteronism ORPHA:73224
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Multiple Endocrine Neoplasia Type 1
Lethargy, Hypercalcemia, Increased circulating cortisol level, Primary hypercortisolism ORPHA:652
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea, Ataxia OMIM:212750
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Aminoaciduria, Abnormal blood ion concentration ORPHA:411629
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Aminoaciduria, Hyperaldoster... ORPHA:534
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Holoprosencephaly
Dystonia, Hyponatremia ORPHA:2162
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Thyrotoxic Periodic Paralysis
Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia... ORPHA:79102
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Mccune-Albright Syndrome
Hypophosphatemia, Increased circulating cortisol level, Primary hypercortisolism ORPHA:562
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia, Ataxia ORPHA:31826
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Ataxia, Steatorrhea, Hypokalemia, Hyperalaninemia, Hypomagnesemia ORPHA:699
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentration OMIM:618885
Dent Disease
Elevated circulating creatine kinase concentration, Hyperuricosuria, Renal hypophosphatemia, Amin... ORPHA:1652
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Cystinosis, Nephropathic
Decreased plasma carnitine, Hypophosphatemic rickets, Hyponatremia, Generalized aminoaciduria OMIM:219800
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Williams Syndrome
Gait disturbance, Abnormal circulating lipid concentration, Ataxia, Hypercalcemia, Dysmetria, Ele... ORPHA:904
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoalbuminemia, Hypo... ORPHA:37042
Raine Syndrome
Hypophosphatemia OMIM:259775
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia, Hypochloremia ORPHA:90794
Williams-Beuren Syndrome
Hypercalcemia, Gait imbalance, Attention deficit hyperactivity disorder OMIM:194050
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia OMIM:613658
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Primary hyperaldosteronism, Hypokalemia, Hypomagnesemia ORPHA:358
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Sotos Syndrome
Hypercalcemia, Attention deficit hyperactivity disorder ORPHA:821
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Sarcoidosis
Hypercalcemia ORPHA:797
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:449395
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Digeorge Syndrome
Hypocalcemia, Attention deficit hyperactivity disorder OMIM:188400
22Q11.2 Deletion Syndrome
Hypocalcemia, Attention deficit hyperactivity disorder ORPHA:567
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91500
Charge Syndrome
Hypocalcemia OMIM:214800
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Ataxia OMIM:618226
Isolated Complex I Deficiency
Increased serum pyruvate, Lethargy, Ataxia ORPHA:2609
Leigh Syndrome With Leukodystrophy
Progressive cerebellar ataxia, Dystonia ORPHA:255241

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 Ndufs1

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 Ndufs1.

No publications found that use IMPC mice or data for Ndufs1.

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MGI Allele Allele Type Produced
Ndufs1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice
Ndufs1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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