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Gene: Ndufs1 MGI:2443241

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Gene Summary

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

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 phosphate level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 9.53×10-09
increased circulating lipase level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 3.44×10-06
decreased circulating triglyceride level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 1.77×10-06
decreased vertical activity Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 2.75×10-05
increased circulating calcium level Ndufs1tm1b(EUCOMM)Hmgu HET   Early adult 5.60×10-05
increased circulating sodium level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 6.51×10-07
increased circulating creatinine level Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 5.32×10-06
decreased locomotor activity Ndufs1tm1b(EUCOMM)Hmgu HET Early adult 6.78×10-07
preweaning lethality, complete penetrance Ndufs1tm1b(EUCOMM)Hmgu HOM   Early adult 4.24×10-05

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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 0.79% (4 of 507)
aorta 0.0%
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.58% (3 of 513)
brainstem 0.39% (2 of 519)
brown adipose tissue 0.0%
cartilage tissue 0.2% (1 of 496)
cecum 4.92% (16 of 325)
cerebellum 0.59% (3 of 506)
cerebral cortex 0.4% (2 of 494)
chest bone Unavailable
colon 16.52% (19 of 115)
cranium
diaphragm 0.0%
epididymis 12.6% (16 of 127)
esophagus 1.45% (5 of 345)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.4% (2 of 496)
hindlimb 0.0%
hippocampus 0.41% (2 of 491)
hypothalamus 0.4% (2 of 496)
kidney 4.26% (21 of 493)
large intestine 5.11% (26 of 509)
liver 0.0%
lower urinary tract 0.0%
lung 0.2% (1 of 502)
lymph node 0.2% (1 of 503)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.38% (1 of 264)
olfactory lobe 0.2% (1 of 502)
oral epithelium 0.0%
ovary 0.21% (1 of 487)
oviduct 0.0%
pancreas 0.83% (4 of 483)
parathyroid gland 0.21% (1 of 486)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.2% (1 of 507)
peyers patch 0.0%
pituitary gland 0.2% (1 of 491)
prostate gland 2.06% (10 of 486)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.21% (1 of 486)
small intestine 4.78% (24 of 502)
spinal cord 0.39% (2 of 512)
spleen 0.6% (3 of 500)
stomach 3.05% (15 of 491)
stomach pyloric region 0.0%
striatum 0.41% (2 of 493)
sublingual gland 0.0%
submandibular gland 1.69% (2 of 118)
testis 1.23% (6 of 489)
thymus 0.21% (1 of 476)
thyroid gland 2.63% (13 of 495)
tongue 3.54% (4 of 113)
trachea 0.6% (3 of 497)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.2% (1 of 498)
vagina 0.0%
vas deferens 5.45% (18 of 330)
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

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Adult LacZ

LacZ Images Wholemount

24 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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
Lethargy, Ataxia OMIM:618226
Isolated Complex I Deficiency
Lethargy, Increased serum pyruvate, Ataxia 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
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration OMIM:615883
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Hyponatremia OMIM:616949
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Increased circulating 18-hydroxycortisone level,... OMIM:610600
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Lethargy, Hypernatremia, Hype... OMIM:615751
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypercalcemia, Infantile, 1
Lethargy, Hypercalcemia OMIM:143880
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia, Difficulty walking, Hypocalcemia ORPHA:99845
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Central Diabetes Insipidus
Lethargy, Hyponatremia ORPHA:178029
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... ORPHA:556037
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, 1, X-Linked
Hypernatremia OMIM:304800
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:177735
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... ORPHA:556030
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia OMIM:612462
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... ORPHA:94093
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Tip-toe gait, Hypoglutaminemia, Hypertaurinemia, Ataxia, Neonata... ORPHA:3008
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:203400
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia OMIM:264350
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Posttransplant Acute Limbic Encephalitis
Ataxia, Hyponatremia ORPHA:163921
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Hyperkalemic Periodic Paralysis
Hypokalemia, Gait disturbance, Hyperkalemia, Elevated circulating creatine kinase concentration, ... ORPHA:682
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Hypophosphatasia
Hypercalcemia ORPHA:436
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:199296
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Dent Disease 2
Aminoaciduria, Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Saccharopinuria
Gait ataxia, Hyperlysinemia, Hyperlysinuria, Citrullinuria, Abnormality of circulating enzyme lev... ORPHA:3124
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Ataxia, Increased LDL choles... OMIM:267700
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia OMIM:614736
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Calcinosis OMIM:211900
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Familial Hypoaldosteronism
Lethargy, Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:427
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperuricemia, Hydroxyprolinuria, Hyperphosphatemia OMIM:239000
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, Hyponatremia, L... ORPHA:199299
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia OMIM:214700
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Waddling gait OMIM:156400
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... ORPHA:171876
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:423
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia OMIM:613845
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia OMIM:612736
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:100924
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Fanconi Renotubular Syndrome 5
Aminoaciduria, Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hyperkalemia, Ataxia, Elevated circulating creatine kinase concentration, Hypo... ORPHA:466650
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Ataxia, Increased circulating ferritin concentration, Hypoproteinemia,... OMIM:603553
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Hydroxyprolinuria OMIM:602080
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Lethargy ORPHA:173
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:79444
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Acute Adrenal Insufficiency
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... ORPHA:95409
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... ORPHA:31824
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Choreoathetosis, Hypocalcemic seizures, Hypoc... ORPHA:79443
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Hypophosphatemia OMIM:308990
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia OMIM:617744
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Difficulty walking, Hyponatremia, Hypoalbuminemia ORPHA:1667
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Cystinosis
Hypokalemia, Hypophosphatemia, Aminoaciduria, Gait disturbance ORPHA:213
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia, Difficulty walking OMIM:600081
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Generalized aminoaciduria, Hypouricemia OMIM:227810
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypophosphatemia, Hypocalcemia ORPHA:93160
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hyponatremia OMIM:300200
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Hyponatremia ORPHA:79273
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia OMIM:613090
Renal Hypoplasia, Bilateral
Lethargy, Hyperkalemia, Hyponatremia ORPHA:97362
Necrotizing Enterocolitis
Lethargy, Hyponatremia ORPHA:391673
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Generalized aminoaciduria, Difficulty walking, Hypocalcemic seizures, Hypocalcemia OMIM:264700
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Juvenile Nephropathic Cystinosis
Aminoaciduria, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circula... ORPHA:411634
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Fibrous Dysplasia Of Bone
Antalgic gait, Increased circulating cortisol level, Hypophosphatemia, Hypercalcemia, Difficulty ... ORPHA:249
Alg8-Cdg
Ataxia, Hyponatremia ORPHA:79325
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:405
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypokalemia OMIM:605635
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Aminoaciduria OMIM:134600
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Hypercalcemia ORPHA:476126
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Inability to walk, Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia OMIM:617913
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Difficult... OMIM:241530
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... OMIM:613095
Hereditary Fructose Intolerance
Lethargy, Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia OMIM:608688
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Oncogenic Osteomalacia
Gait disturbance, Hypophosphatemia, Hypocalcemia ORPHA:352540
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Snakebite Envenomation
Hyponatremia ORPHA:449285
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Addison Disease
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... ORPHA:85138
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypophosphatemia, Hypouricemia OMIM:616026
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hartsfield Syndrome
Hypernatremia OMIM:615465
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Increased circulating renin le... OMIM:601678
Pheochromocytoma
Hypercalcemia OMIM:171300
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Generalized aminoaciduria, Difficulty walking, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Mastocytosis
Hypercalcemia ORPHA:98292
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Legionnaires Disease
Ataxia, Hyponatremia ORPHA:549
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Timothy Syndrome
Hypocalcemia OMIM:601005
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:90791
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria OMIM:606407
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures OMIM:277440
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria OMIM:613388
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Ataxia, Elevated circulating creatine kinase concentration OMIM:610505
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia ORPHA:88673
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:90790
Whipple Disease
Ataxia, Hyponatremia ORPHA:3452
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Infant Botulism
Hyponatremia ORPHA:178478
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, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:361
Familial Dysautonomia
Gait disturbance, Ataxia, Hyponatremia ORPHA:1764
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia, Generalized aminoaciduria ORPHA:2088
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase concentra... OMIM:619743
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty... OMIM:608836
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Visceral Steatosis, Congenital
Hypocalcemia, Lethargy OMIM:228100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Chédiak-Higashi Syndrome
Inability to walk, Gait disturbance, Ataxia, Increased circulating ferritin concentration, Hypopr... ORPHA:167
Vipoma
Hypokalemia, Hypercalcemia, Increased circulating cortisol level ORPHA:97282
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Somatostatinoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97283
Adenohypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95512
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hyponatremia ORPHA:79473
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... ORPHA:90038
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Ataxia, Hyponatremia OMIM:618426
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Lethargy, Tip-toe gait ORPHA:746
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Bartter Syndrome Type 4
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... ORPHA:89938
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia OMIM:602522
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Panhypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95513
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperuricemia, Hypophosphatemia, Hyperbilirubinemia, Lethargy, Bicarbona... OMIM:229600
Pituitary Apoplexy
Increased circulating cortisol level, Hyponatremia ORPHA:95613
Glucagonoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97280
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level ORPHA:913
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Difficulty walking, Ataxia OMIM:618476
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Alg12-Cdg
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Steatorrhea, Xanthelasma, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:293978
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... ORPHA:289548
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Generalized aminoaciduria, Hypophospha... ORPHA:3337
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Aminoaciduria, Hypophosphatemia, Decreased plasma carnitine, Hypokal... OMIM:219800
Dent Disease 1
Aminoaciduria, Hypophosphatemia OMIM:300009
Japanese Encephalitis
Choreoathetosis, Hyponatremia ORPHA:79139
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Infantile Nephropathic Cystinosis
Hypokalemia, Hypophosphatemia, Aminoaciduria, Abnormal blood ion concentration ORPHA:411629
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea, Ataxia OMIM:212750
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Multiple Endocrine Neoplasia Type 1
Primary hypercortisolism, Lethargy, Hypercalcemia, Increased circulating cortisol level ORPHA:652
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Sheehan Syndrome
Decreased circulating cortisol level, Hyponatremia ORPHA:91355
Shigellosis
Abnormal blood ion concentration, Hyponatremia ORPHA:810
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceridemia OMIM:618885
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Elevated circulating creatinine concentra... ORPHA:85450
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Mccune-Albright Syndrome
Primary hypercortisolism, Hypophosphatemia, Increased circulating cortisol level ORPHA:562
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Pearson Syndrome
Hyperalaninemia, Hypokalemia, Hypophosphatemia, Ataxia, Steatorrhea, Hypocalcemia, Hypomagnesemia ORPHA:699
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
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia, Ataxia ORPHA:31826
Opsismodysplasia
Hypophosphatemia OMIM:258480
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterole... ORPHA:534
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Williams Syndrome
Abnormal circulating lipid concentration, Gait imbalance, Gait disturbance, Ataxia, Elevated circ... ORPHA:904
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Lethargy, Elevat... ORPHA:99826
Holoprosencephaly
Hyponatremia ORPHA:2162
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Abnormal blood ion concentration, Hypocalcemia, Hypomagnesemia, Hypoa... ORPHA:37042
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Dent Disease
Aminoaciduria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Liver Disease, Severe Congenital
Aminoaciduria, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated... OMIM:619991
Raine Syndrome
Hypophosphatemia OMIM:259775
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperkalemia, Hyperlipidemia, Hyponatremia ORPHA:293987
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:90794
Williams-Beuren Syndrome
Gait imbalance, Hypercalcemia OMIM:194050
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Sarcoidosis
Hypercalcemia ORPHA:797
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Autosomal Recessive Polycystic Kidney Disease
Increased serum bile acid concentration, Hyponatremia ORPHA:731
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Gitelman Syndrome
Hypokalemia, Primary hyperaldosteronism, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating renin level, Decreased circulating cortisol level, Hyperkalemia, Hyponatrem... OMIM:201750
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Sotos Syndrome
Hypercalcemia ORPHA:821
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... OMIM:619534
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Tip-toe gait, Falls, Hypocalcemia, Hypomagnesemia, Broad-based gait OMIM:619503
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-reactive pro... ORPHA:91500
Digeorge Syndrome
Hypocalcemia OMIM:188400
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Ataxia OMIM:618226
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Charge Syndrome
Hypocalcemia OMIM:214800
Isolated Complex I Deficiency
Lethargy, Increased serum pyruvate, Ataxia 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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