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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
increased circulating potassium level	Gpd1^{em1(IMPC)Hmgu}	HOM	Early adult	3.15×10^-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
abnormal skin morphology	Gpd1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal gait	Gpd1^{em1(IMPC)Hmgu}	HOM	Early adult	5.66×10^-05
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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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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 (389 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 circulating hepatic transaminase concentration, 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 circulating lactate dehydrogenase concentration	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	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Acatalasemia	Reduced circulating catalase activity	OMIM:614097
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Adamantinoma	Hypercalcemia	ORPHA:55881
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Falls	OMIM:615883
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
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, Difficulty walking, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase	ORPHA:99845
Autoimmune Hypoparathyroidism	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:36913
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
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
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Pseudohypoparathyroidism, Type Ic	Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany	OMIM:612462
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620126
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia	OMIM:614495
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94089
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620125
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hypercalcemia, Hyperphosphatemia	OMIM:211900
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hyperchloremia	OMIM:614496
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Tumoral Calcinosis, Normophosphatemic, Familial	Abnormal blood phosphate concentration, Abnormal circulating calcium concentration	OMIM:610455
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Hypocalcemic tetany	OMIM:103580
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Hypophosphatasia	Hypercalcemia	ORPHA:436
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:610600
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia	OMIM:240200
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:203400
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:620366
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia	OMIM:127000
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hyperchloremia	OMIM:614492
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinuria, Hydroxyprolinemia, Hyperuricemia	OMIM:239000
Dent Disease 2	Aminoaciduria, Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hypercalcemia, Hypophosphatemia	OMIM:156400
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy...	ORPHA:94093
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
2P21 Microdeletion Syndrome	Hypocalcemia, Cystinuria	ORPHA:163693
Hyperkalemic Periodic Paralysis	Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, ...	ORPHA:682
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Fanconi Renotubular Syndrome 5	Aminoaciduria, Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:617872
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:177735
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia	OMIM:612526
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Increased circulating renin level	ORPHA:556037
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Hypomagnesemia	ORPHA:428
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Hyponatremia	OMIM:264350
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l...	OMIM:241150
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Waddling gait, Hypophosphatemia, Increased circulating beta-C-terminal ...	ORPHA:157215
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:618528
Nephronophthisis 2	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:602088
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia	OMIM:617744
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Increased circulating renin level	ORPHA:556030
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Hydroxyprolinuria	OMIM:602080
Hypophosphatasia, Infantile	Hypercalcemia, Elevated plasma pyrophosphate	OMIM:241500
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Aminoaciduria, Hypophosphatemia	OMIM:308990
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Hyponatremia	OMIM:614736
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:79444
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia	ORPHA:251004
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Cystinosis	Aminoaciduria, Gait disturbance, Hypophosphatemia, Hypokalemia	ORPHA:213
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	OMIM:618440
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Difficulty walking, Hypophosphatemia	OMIM:600081
Liddle Syndrome 2	Decreased circulating renin level, Hypokalemia	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Hypokalemia	OMIM:618126
Fanconi Renotubular Syndrome 1	Aminoaciduria, Hypophosphatemia, Hypokalemia	OMIM:134600
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Choreoat...	ORPHA:79443
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:93325
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia, Gait disturbance	ORPHA:93160
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:93324
Liddle Syndrome	Hypokalemia	ORPHA:526
Birk-Landau-Perez Syndrome	Hyperkalemia, Limb ataxia, Difficulty walking, Increased circulating creatine kinase MB isoform, ...	OMIM:617595
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hyperphos...	ORPHA:466650
Refractory Celiac Disease	Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia	ORPHA:398063
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Difficulty walking, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia	OMIM:264700
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Hypophosphatemia	OMIM:616026
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati...	OMIM:613095
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Generalized Pseudohypoaldosteronism Type 1	Increased circulating renin level, Hyponatremia, Hyperkalemia	ORPHA:171876
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia, Gait disturbance	ORPHA:352540
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia, Difficult...	OMIM:241530
Liddle Syndrome 1	Decreased circulating renin level, Hypokalemia	OMIM:177200
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Gait ataxia	ORPHA:476126
Hypomagnesemia 2, Renal	Hypomagnesemia, Hypokalemia	OMIM:154020
Hypophosphatemic Rickets, X-Linked Dominant	Waddling gait, Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphat...	OMIM:307800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Ataxia, Inability to walk, Conjugated hyperbilirubinemia	OMIM:608885
Multiple Myeloma	Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia	ORPHA:29073
Acute Adrenal Insufficiency	Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia	ORPHA:95409
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperuricemia	ORPHA:199299
Pheochromocytoma	Hypercalcemia	OMIM:171300
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Fibrous Dysplasia Of Bone	Difficulty walking, Hypercalcemia, Hypophosphatemia, Antalgic gait	ORPHA:249
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia	ORPHA:340
East Syndrome	Difficulty walking, Inability to walk, Hypokalemia, Increased circulating renin level, Hypomagnes...	ORPHA:199343
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612924
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Generalized aminoaciduria	OMIM:613388
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Hypokalemia, Generalized aminoaciduria, Hypouricemia, Hy...	OMIM:227810
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
Bartter Syndrome, Type 5, Antenatal, Transient	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:300971
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Cystinuria	OMIM:606407
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Hypokalemia	OMIM:604278
Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Increased circulating renin level	ORPHA:427
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypocalcemia, Hypomagnesemia, Hypokalemia	OMIM:175500
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hypokalemia	OMIM:618314
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Difficulty walking, Hypophosphatemia	OMIM:277440
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612925
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula...	OMIM:601678
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypokalemia	OMIM:218030
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Addison Disease	Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia	ORPHA:85138
Corticosteroid-Binding Globulin Deficiency	Reduced circulating cortisol-binding globulin concentration, Hypokalemia	OMIM:611489
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Difficulty walking, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia	ORPHA:289157
Hypokalemic Periodic Paralysis	Mildly elevated creatine kinase, Episodic hypokalemia	ORPHA:681
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Hyponatremia, Aminoaciduria	OMIM:617913
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-...	ORPHA:91547
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp...	OMIM:619743
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Renal Hypoplasia, Bilateral	Hyperkalemia, Hyponatremia	ORPHA:97362
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Timothy Syndrome	Hypocalcemia	OMIM:601005
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
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia, Generalized aminoaciduria	ORPHA:2088
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia, Difficulty walking, Ataxia	OMIM:618476
Vipoma	Hypercalcemia, Hypokalemia	ORPHA:97282
Mirage Syndrome	Hyperkalemia, Hyponatremia	OMIM:617053
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Generalized aminoaciduria, Decreased circu...	ORPHA:3337
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Generalized Pustular Psoriasis	Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Hyperaldosteronism, Familial, Type Iii	Decreased circulating renin level, Hypokalemia	OMIM:613677
Primary Intestinal Lymphangiectasia	Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia	ORPHA:90362
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia...	ORPHA:26793
Familial Glucocorticoid Deficiency	Hyperkalemia, Hyponatremia	ORPHA:361
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Aminoaciduria, Hypophosphatemia, Hypokalemia	ORPHA:411629
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating renin level, Hyponatremia, Hyperkalemia	ORPHA:90791
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co...	OMIM:608836
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia, Ataxia	ORPHA:31826
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:542323
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Hyponatremia	ORPHA:90790
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:274150
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Dent Disease 1	Aminoaciduria, Hypophosphatemia	OMIM:300009
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Ppoma	Hypercalcemia	ORPHA:97278
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Diarrhea 1, Secretory Chloride, Congenital	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:214700
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Tip-toe gait	ORPHA:746
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Hypokalemia	ORPHA:231632
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir...	ORPHA:90038
Somatostatinoma	Hypercalcemia	ORPHA:97283
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:36234
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Grfoma	Hypercalcemia	ORPHA:97261
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Decreased circulating renin level, Athetosis, Hypokalemia	OMIM:615474
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Hyponatremia	OMIM:201810
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Glucagonoma	Hypercalcemia	ORPHA:97280
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Dysdiadochokinesis, Increased circulating renin level, Hypomagnesemia, Ataxia	OMIM:612780
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated circulating creatinine concentration	ORPHA:230
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Ataxia	OMIM:212750
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Elevated circulating creatinine concentration, Decreased...	ORPHA:85450
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia	ORPHA:231580
Cystinosis, Nephropathic	Hypophosphatemic rickets, Hypokalemia, Generalized aminoaciduria, Reduced blood urea nitrogen, De...	OMIM:219800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia	OMIM:235255
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Athetosis, Hypokalemia	ORPHA:369929
Opsismodysplasia	Hypophosphatemia	OMIM:258480
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c...	ORPHA:289548
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyponatremia, Hyperkalemia, Hypercholesterolemia	ORPHA:275761
Pearson Syndrome	Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia, Ataxia	ORPHA:699
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypokalemia	ORPHA:320
Williams Syndrome	Abnormal circulating lipid concentration, Gait imbalance, Elevated circulating creatine kinase co...	ORPHA:904
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia	OMIM:613090
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Decreased circulating renin level, Hypokalemia	ORPHA:231625
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hypoproteinemia	ORPHA:1655
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ...	ORPHA:37042
Infection-Related Hemolytic Uremic Syndrome	Hypocalcemia, Hyponatremia, Hyperkalemia	ORPHA:544482
Helix Syndrome	Hypermagnesemia, Hypokalemia	OMIM:617671
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Mccune-Albright Syndrome	Hypophosphatemia	ORPHA:562
Raine Syndrome	Hypophosphatemia	OMIM:259775
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Mercury Poisoning	Hypokalemia	ORPHA:330021
Igg4-Related Retroperitoneal Fibrosis	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:49041
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Dent Disease	Aminoaciduria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Gitelman Syndrome	Increased circulating renin level, Hypomagnesemia, Ataxia, Hypokalemia	OMIM:263800
Hypertriglyceridemia, Transient Infantile	Elevated circulating hepatic transaminase concentration, Elevated gamma-glutamyltransferase level	OMIM:614480
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Oculocerebrorenal Syndrome Of Lowe	Hypokalemia, Hyponatremia, Hypophosphatemia, Hypercholesterolemia, Aminoaciduria, Hypoammonemia	ORPHA:534
Sarcoidosis	Hypercalcemia	ORPHA:797
Bartter Syndrome, Type 3	Increased circulating renin level, Hyperchloriduria, Hypokalemia	OMIM:607364
Williams-Beuren Syndrome	Hypercalcemia, Gait imbalance	OMIM:194050
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Marburg Hemorrhagic Fever	Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,...	ORPHA:99826
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Osteootohepatoenteric Syndrome	Increased serum bile acid concentration, Hypokalemia	OMIM:619377
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Ataxia, Hypokalemia	OMIM:618426
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia	OMIM:219090
Gitelman Syndrome	Hypocalcemia, Hypermagnesemia, Hypomagnesemia, Hypokalemia	ORPHA:358
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Hyponatremia, Hypochloremia	ORPHA:90794
Adrenocortical Carcinoma	Hypokalemia	ORPHA:1501
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia	OMIM:613658
Sotos Syndrome	Hypercalcemia	ORPHA:821
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia	OMIM:602522
Bartter Syndrome Type 4	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia	ORPHA:89938
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia	ORPHA:90795
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Liver Disease, Severe Congenital	Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,...	OMIM:619991
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia	OMIM:202010
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Yellow Fever	Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ...	ORPHA:99829
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Broad-based gait	OMIM:620330
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia	ORPHA:90793
22Q11.2 Deletion Syndrome	Hypocalcemia	ORPHA:567
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Tip-toe gait, Falls, Hypocalcemia, Broad-based gait, Hypomagnesemia	OMIM:619503
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Hyponatremia, Decreased circulating renin level	OMIM:201750
Rabson-Mendenhall Syndrome	Increased C-peptide level, Hypokalemia	ORPHA:769
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula...	OMIM:241200
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-reactive pro...	ORPHA:91500
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786
Nelson Syndrome	Hypokalemia	ORPHA:199244
Distal Renal Tubular Acidosis	Aminoaciduria, Hypokalemia	ORPHA:18
Scorpion Envenomation	Increased circulating creatine kinase MB isoform, Ataxia, Increased circulating NT-proBNP concent...	ORPHA:466677
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini...	OMIM:619534
Proximal Renal Tubular Acidosis	Bicarbonaturia, Aminoaciduria, Hypokalemia	ORPHA:47159
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia	OMIM:619573
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Tsh-Secreting Pituitary Adenoma	Hypokalemia	ORPHA:91347
Charge Syndrome	Hypocalcemia	OMIM:214800
Leprechaunism	Increased circulating renin level, Hypokalemia	ORPHA:508
Johanson-Blizzard Syndrome	Hypocalcemia, Conjugated hyperbilirubinemia, 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 21.0 Data