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
increased circulating calcium level Ndufs1tm1b(EUCOMM)Hmgu HET   Early adult 5.58×10-05
increased circulating sodium level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 6.52×10-07
decreased vertical activity Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 2.56×10-05
preweaning lethality, complete penetrance Ndufs1tm1b(EUCOMM)Hmgu HOM   Early adult 4.24×10-05
increased circulating lipase level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 3.45×10-06
decreased circulating triglyceride level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 1.77×10-06
increased circulating creatinine level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 5.32×10-06
increased circulating phosphate level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 9.28×10-09
decreased locomotor activity Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 6.55×10-07

Download data as:  TSV  XLS

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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 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
cranium
diaphragm 0.0%
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

24 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Ataxia, Lethargy OMIM:618226
Isolated Complex I Deficiency
Increased serum pyruvate, Ataxia, Lethargy ORPHA:2609
Leigh Syndrome With Leukodystrophy
Progressive cerebellar ataxia 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 Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia 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
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
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
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Increased circulating 18-hydroxyco... OMIM:610600
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Hyperphosphatemia, Difficulty walking ORPHA:99845
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Azotemia, Familial
Azotemia OMIM:109160
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556037
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia OMIM:618426
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Central Diabetes Insipidus
Hyponatremia, Lethargy ORPHA:178029
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556030
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Lethargy OMIM:143880
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyperaldosteronism, Hyponatremia, Increased circulating renin level OMIM:177735
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kinase con... ORPHA:94093
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum pyruvate, Elevat... ORPHA:3008
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Gait disturbance, Hypertriglyceridemia, Incre... OMIM:616516
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyperaldosteronism, Hyponatremia OMIM:264350
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Ataxia ORPHA:163921
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyponatremia, Hyperkalemia, Elevated circulating creatine kinase concentration, Gait... ORPHA:682
Dent Disease 2
Elevated circulating creatine kinase concentration, Aminoaciduria, Hypophosphatemia OMIM:300555
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Hypophosphatasia
Hypercalcemia ORPHA:436
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Saccharopinuria
Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Elevated pla... ORPHA:3124
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Increased to... OMIM:267700
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Lethargy, Increased circulating renin level ORPHA:427
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia ORPHA:199296
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hydroxyprolinuria, Hyperuricemia OMIM:239000
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circ... ORPHA:171876
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:100924
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Decreased circulating cortisol level, Lethargy, Hyperuricemia ORPHA:199299
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Waddling gait,... ORPHA:157215
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Hypophosphatemia OMIM:613388
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia ORPHA:97289
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia OMIM:613845
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Fanconi Renotubular Syndrome 5
Aminoaciduria, Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Ataxia, Lethargy, Elevated circulating creatine kinase concentration,... ORPHA:466650
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Fanconi Renotubular Syndrome 1
Aminoaciduria, Hypokalemia, Hypophosphatemia OMIM:134600
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Hypertriglyc... OMIM:603553
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79444
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Cholera
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Lethargy ORPHA:173
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decreased circulati... ORPHA:95409
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Hypophosphatemia OMIM:308990
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Hypoalbuminemia, Difficulty walking, Hyperammonemia ORPHA:1667
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Cystinosis
Aminoaciduria, Hypokalemia, Hypophosphatemia, Gait disturbance ORPHA:213
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:93160
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hyponatremia OMIM:300200
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Necrotizing Enterocolitis
Hyponatremia, Lethargy ORPHA:391673
Hartsfield Syndrome
Hypernatremia OMIM:615465
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79443
Fibrous Dysplasia Of Bone
Antalgic gait, Hypercalcemia, Hypophosphatemia, Difficulty walking, Increased circulating cortiso... ORPHA:249
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Alg8-Cdg
Hyponatremia, Ataxia ORPHA:79325
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Hypercalcemia ORPHA:476126
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Lethargy, Hyperuricemia ORPHA:469
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Snakebite Envenomation
Hyponatremia ORPHA:449285
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:352540
Glutaric Acidemia Type 3
Lethargy, Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme level ORPHA:35706
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Difficulty walking OMIM:600081
Addison Disease
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decreased circulati... ORPHA:85138
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures, Difficulty walking OMIM:264700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypophosphatemia, Hypouricemia OMIM:616026
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Lethargy, Elevated circulating creatine kinase concentration, Incr... ORPHA:26793
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria OMIM:606407
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ataxia OMIM:618476
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Hypocalcemia, Hypophosphatemia, Difficulty walking ORPHA:289157
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Ataxia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Legionnaires Disease
Hyponatremia, Ataxia ORPHA:549
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Mastocytosis
Hypercalcemia ORPHA:98292
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Difficulty walking, Hypophosphatemia OMIM:241530
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypercalcemia OMIM:131100
Pheochromocytoma
Hypercalcemia OMIM:171300
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Timothy Syndrome
Hypocalcemia OMIM:601005
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia, Increased circulating renin level ORPHA:90791
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Infant Botulism
Hyponatremia ORPHA:178478
Whipple Disease
Hyponatremia, Ataxia ORPHA:3452
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia ORPHA:90790
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures, Difficulty walking OMIM:277440
Familial Dysautonomia
Hyponatremia, Ataxia, Gait disturbance ORPHA:1764
Familial Glucocorticoid Deficiency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia ORPHA:361
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:307800
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... OMIM:608836
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Inability to walk, A... ORPHA:167
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Vipoma
Hypokalemia, Increased circulating cortisol level, Hypercalcemia ORPHA:97282
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating creatinine conce... ORPHA:90038
Visceral Steatosis, Congenital
Hypocalcemia, Lethargy OMIM:228100
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Lethargy, Hyperbilirubinemia, Hypophosphatemia, T... OMIM:229600
Ppoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97278
Somatostatinoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea ORPHA:97283
Adenohypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95512
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Hyponatremia ORPHA:293978
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Lethargy, Tip-toe gait ORPHA:746
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Bartter Syndrome Type 4
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hyperaldosteronism, ... ORPHA:89938
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level ORPHA:95613
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Panhypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95513
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Glucagonoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea ORPHA:97280
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Hypercalcemia ORPHA:913
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets... ORPHA:3337
Grfoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97261
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Decreased circulating cortisol lev... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Decreased circulating cortisol lev... ORPHA:289548
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Hypertriglyceridemia, Steatorrhea ORPHA:275761
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Hypercalcemia ORPHA:276152
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Dent Disease 1
Aminoaciduria, Hypophosphatemia OMIM:300009
Sheehan Syndrome
Decreased circulating cortisol level, Hyponatremia ORPHA:91355
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Aminoaciduria, Hypokalemia, Hypophosphatemia ORPHA:411629
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Shigellosis
Abnormal blood ion concentration, Hyponatremia ORPHA:810
Opsismodysplasia
Hypophosphatemia OMIM:258480
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Ataxia, Steatorrhea OMIM:212750
Multiple Endocrine Neoplasia Type 1
Primary hypercortisolism, Increased circulating cortisol level, Hypercalcemia, Lethargy ORPHA:652
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Cystinosis, Nephropathic
Generalized aminoaciduria, Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decreased plasma ... OMIM:219800
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Japanese Encephalitis
Hyponatremia ORPHA:79139
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Mccune-Albright Syndrome
Primary hypercortisolism, Hypophosphatemia, Increased circulating cortisol level ORPHA:562
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Ataxia ORPHA:31826
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Aminoaciduria, Hyperaldosteronism... ORPHA:534
Pearson Syndrome
Hypokalemia, Hypocalcemia, Ataxia, Hypophosphatemia, Hypomagnesemia, Hyperalaninemia, Steatorrhea 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
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatinine concentration, Hyperamylasemia, Lethargy, Elevated c... ORPHA:99826
Holoprosencephaly
Hyponatremia ORPHA:2162
Dent Disease
Elevated circulating creatine kinase concentration, Aminoaciduria, Renal hypophosphatemia, Hyperu... ORPHA:1652
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Raine Syndrome
Hypophosphatemia OMIM:259775
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Williams Syndrome
Dysmetria, Hypercalcemia, Abnormal circulating lipid concentration, Ataxia, Elevated circulating ... ORPHA:904
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:49041
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Hyponatremia ORPHA:293987
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia, Hypochloremia ORPHA:90794
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Williams-Beuren Syndrome
Gait imbalance, Hypercalcemia OMIM:194050
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Sarcoidosis
Hypercalcemia ORPHA:797
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Hypermagnesemia, Hypomagnesemia, Primary hyperaldosteronism ORPHA:358
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Elevated circulating C-reactive protein concentration, E... ORPHA:449395
Sotos Syndrome
Hypercalcemia ORPHA:821
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Yellow Fever
Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Elevated circulating crea... ORPHA:99829
Hennekam Syndrome
Hypocalcemia ORPHA:2136
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating C-reactive protein concentration, Elevated circulating creati... ORPHA:91500
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Tip-toe gait, Hypomagnesemia, Falls, Broad-based gait OMIM:619503
Digeorge Syndrome
Hypocalcemia OMIM:188400
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Charge Syndrome
Hypocalcemia OMIM:214800
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ataxia, Lethargy OMIM:618226
Isolated Complex I Deficiency
Increased serum pyruvate, Ataxia, Lethargy ORPHA:2609
Leigh Syndrome With Leukodystrophy
Progressive cerebellar ataxia 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
Ndufs1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ndufs1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Ndufs1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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