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Gene: Gpd1 MGI:95679

Gene Summary

Name:

glycerol-3-phosphate dehydrogenase 1 (soluble)

Synonyms:

Gdc1, Gdc-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal gait	Gpd1^{em1(IMPC)Hmgu}	HOM	Early adult	2.87×10^-05
abnormal skin morphology	Gpd1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating potassium level	Gpd1^{em1(IMPC)Hmgu}	HOM	Early adult	3.18×10^-06
increased circulating calcium level	Gpd1^{em1(IMPC)Hmgu}	HOM	Early adult	3.39×10^-05
increased circulating phosphate level	Gpd1^{em1(IMPC)Hmgu}	HOM	Early adult	1.82×10^-08
increased circulating creatinine level	Gpd1^{em1(IMPC)Hmgu}	HOM	Early adult	2.62×10^-11

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Gpd1 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.

Human diseases associated with Gpd1 (1 diseases)
Human diseases predicted to be associated with Gpd1 (388 diseases)

The table below shows human diseases associated to Gpd1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypertriglyceridemia, Transient Infantile		Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level	OMIM:614480

The table below shows human diseases predicted to be associated to Gpd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hydroxyacyl Glutathione Hydrolase Deficiency	Glyoxalase deficiency	OMIM:614033
Lactate Dehydrogenase B Deficiency	Reduced lactate dehydrogenase B level	OMIM:614128
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Alcohol Sensitivity, Acute	Reduced acetaldehyde dehydrogenase level	OMIM:610251
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Acatalasemia	Reduced catalase level	OMIM:614097
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
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Falls, Elevated circulating creatine kinase concentration	OMIM:615883
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking	ORPHA:99845
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Hypophosphatasia	Hypercalcemia	ORPHA:436
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Dent Disease 2	Aminoaciduria, Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hypercalcemia, Hypophosphatemia	OMIM:156400
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
2P21 Microdeletion Syndrome	Hypocalcemia, Cystinuria	ORPHA:163693
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Hyperparathyroidism, Neonatal Severe	Calcinosis, Aminoaciduria, Hypercalcemia, Hypophosphatemia	OMIM:239200
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Gait...	ORPHA:682
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Aminoaciduria, Hypophosphatemia	OMIM:618913
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia	OMIM:612736
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Waddli...	ORPHA:157215
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Aminoaciduria, Hypophosphatemia	OMIM:308990
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Cystinosis	Aminoaciduria, Hypokalemia, Gait disturbance, Hypophosphatemia	ORPHA:213
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Pseudohypoparathyroidism Type 1A	Calcinosis, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic s...	ORPHA:79443
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Fanconi Renotubular Syndrome 1	Hypokalemia, Aminoaciduria, Hypophosphatemia	OMIM:134600
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Difficulty walking, Hypophosphatemia	OMIM:600081
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
Hypocalcemic Vitamin D-Resistant Rickets	Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Birk-Landau-Perez Syndrome	Hyperkalemia, Limb ataxia, Choreoathetosis, Difficulty walking, Increased circulating creatine ki...	OMIM:617595
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Liddle Syndrome	Hypokalemia	ORPHA:526
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures	OMIM:264700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Hypophosphatemia	OMIM:616026
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Oncogenic Osteomalacia	Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Difficulty walking, Hypopho...	OMIM:241530
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Gait ataxia	ORPHA:476126
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Pheochromocytoma	Hypercalcemia	OMIM:171300
Fibrous Dysplasia Of Bone	Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia	ORPHA:249
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Ataxia	OMIM:608885
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures	ORPHA:289157
East Syndrome	Ataxia, Inability to walk, Hypokalemia, Increased circulating renin level, Difficulty walking, Hy...	ORPHA:199343
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Fanconi Renotubular Syndrome 2	Generalized aminoaciduria, Hypophosphatemia	OMIM:613388
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal...	ORPHA:411634
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, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Cystinuria	OMIM:606407
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Vitamin D-Dependent Rickets, Type 2A	Difficulty walking, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increa...	OMIM:227810
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Inability to walk, Hypokalemia, Aminoaciduria, Hypocalcemia	OMIM:617913
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia	ORPHA:97362
Timothy Syndrome	Hypocalcemia	OMIM:601005
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Generalized aminoaciduria, Hypophosphatemia	ORPHA:2088
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Decreased...	ORPHA:3337
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Hypocalcemia, Difficulty walking	OMIM:618476
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Infantile Nephropathic Cystinosis	Aminoaciduria, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Mirage Syndrome	Hyponatremia, Hyperkalemia	OMIM:617053
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia, Ataxia	ORPHA:31826
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia	ORPHA:361
Dent Disease 1	Aminoaciduria, Hypophosphatemia	OMIM:300009
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Ppoma	Hypercalcemia	ORPHA:97278
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Hypocalcemia	ORPHA:746
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Somatostatinoma	Hypercalcemia	ORPHA:97283
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Grfoma	Hypercalcemia	ORPHA:97261
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Athetosis, Hypokalemia, Decreased circulating renin level	OMIM:615474
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Glucagonoma	Hypercalcemia	ORPHA:97280
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Dysdiadochokinesis, Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Celiac Disease, Susceptibility To, 1	Ataxia, Hypocalcemia	OMIM:212750
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Fructose Intolerance, Hereditary	Transient aminoaciduria, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Cystinosis, Nephropathic	Hyponatremia, Generalized aminoaciduria, Reduced blood urea nitrogen, Hypophosphatemia, Aminoacid...	OMIM:219800
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia	ORPHA:293978
Pearson Syndrome	Ataxia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Athetosis, Hypokalemia	ORPHA:369929
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:289548
Williams Syndrome	Ataxia, Hypercalcemia, Elevated circulating creatine kinase concentration, Dysmetria, Gait distur...	ORPHA:904
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia	ORPHA:275761
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb...	ORPHA:37042
Mccune-Albright Syndrome	Hypophosphatemia	ORPHA:562
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Raine Syndrome	Hypophosphatemia	OMIM:259775
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Mercury Poisoning	Hypokalemia	ORPHA:330021
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Dent Disease	Aminoaciduria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level	OMIM:614480
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Williams-Beuren Syndrome	Hypercalcemia, Gait imbalance	OMIM:194050
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Ataxia, Hypomagnesemia	OMIM:263800
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Aminoaciduria, Hypokalemia, Hypophosphatemia, Hypercholesterolemia	ORPHA:534
Sarcoidosis	Hypercalcemia	ORPHA:797
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level	OMIM:607364
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia	ORPHA:293987
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Ataxia	OMIM:618426
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia	OMIM:219090
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Osteootohepatoenteric Syndrome	Hypokalemia, Increased serum bile acid concentration	OMIM:619377
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Adrenocortical Carcinoma	Hypokalemia	ORPHA:1501
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
Sotos Syndrome	Hypercalcemia	ORPHA:821
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
22Q11.2 Deletion Syndrome	Hypocalcemia	ORPHA:567
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Broad-based gait, Hypocalcemia	OMIM:620330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Tip-toe gait, Falls, Hypocalcemia, Hypomagnesemia	OMIM:619503
Rabson-Mendenhall Syndrome	Hypokalemia, Increased C-peptide level	ORPHA:769
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro...	ORPHA:91500
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786
Distal Renal Tubular Acidosis	Aminoaciduria, Hypokalemia	ORPHA:18
Nelson Syndrome	Hypokalemia	ORPHA:199244
Scorpion Envenomation	Hypokalemia, Increased circulating NT-proBNP concentration, Ataxia, Increased circulating creatin...	ORPHA:466677
Proximal Renal Tubular Acidosis	Hypokalemia, Aminoaciduria, Bicarbonaturia	ORPHA:47159
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Tsh-Secreting Pituitary Adenoma	Hypokalemia	ORPHA:91347
Charge Syndrome	Hypocalcemia	OMIM:214800
Leprechaunism	Hypokalemia, Increased circulating renin level	ORPHA:508
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Vascular Ehlers-Danlos Syndrome	Hypokalemia	ORPHA:286

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 Gpd1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Gpd1.

No publications found that use IMPC mice or data for Gpd1.

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MGI Allele	Allele Type	Produced
Gpd1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gpd1^{em1(IMPC)Hmgu}	Exon Deletion	Mice
Gpd1^em1(IMPC)Mbp	Exon Deletion	Mice
Gpd1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gpd1 MGI:95679

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Gpd1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data