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Gene: Pdgfd MGI:1919035

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Gene Summary

Name:
platelet-derived growth factor, D polypeptide
Synonyms:
1110003I09Rik

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
decreased circulating potassium level Pdgfdem1(IMPC)Ccpcz HOM Early adult 5.44×10-05
abnormal kidney morphology Pdgfdem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal urinary bladder morphology Pdgfdem1(IMPC)Ccpcz HOM Early adult 0.00

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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

32 Images

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X-ray

XRay Images Hind Leg and Hip

34 Images

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X-ray

XRay Images Forepaw

16 Images

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XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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XRay Images Skull Lateral Orientation

16 Images

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Human diseases caused by Pdgfd 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614495
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Obesity, Myocardial infarction OMIM:608320
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level OMIM:614492
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171420
Rhabdoid Tumor
Hypertension, Internal hemorrhage, Hypercalcemia, Weight loss ORPHA:69077
Non-Functioning Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive... ORPHA:94080
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive OMIM:214700
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive OMIM:613090
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Low... OMIM:601678
Narcolepsy Type 1
Syncope, Obesity ORPHA:2073
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Hypochloremia, Hypertension, Hypokalemia, Increased circ... ORPHA:89938
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... OMIM:241150
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia ORPHA:526
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Shock, Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Hypovolem... ORPHA:90794
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171300
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive... ORPHA:276621
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Paternal Uniparental Disomy Of Chromosome 1
Hypertension, Obesity, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Low-to-normal bloo... OMIM:241200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria OMIM:602722
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Liddle Syndrome 1
Renal insufficiency, Hypokalemia, Decreased circulating renin level OMIM:177200
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Hypercalcemia OMIM:614732
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Monosomy 13Q34
Metrorrhagia, Epistaxis, Hypercalcemia, Obesity, Hematochezia, Pulmonic stenosis ORPHA:96168
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive OMIM:602522
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Late-Onset Isolated Acth Deficiency
Hyponatremia, Orthostatic hypotension, Premature ovarian insufficiency, Hypercalcemia, Hyperkalem... ORPHA:199299
2P21 Microdeletion Syndrome
Failure to thrive, Hypogonadism, Hypocalcemia ORPHA:163693
Acute Adrenal Insufficiency
Hyponatremia, Orthostatic hypotension, Decreased female libido, Hypercalcemia, Myocardial infarct... ORPHA:95409
Pseudohypoparathyroidism Type 2
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... ORPHA:94090
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... OMIM:604278
Oculoskeletodental Syndrome
Small for gestational age, Hypercalcemia, Cryptorchidism, Lacunar stroke, Hypocalcemia OMIM:618440
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypophosphatasia, Infantile
Intracranial hemorrhage, Failure to thrive, Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive... ORPHA:29072
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... ORPHA:45452
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Autoimmune Hypoparathyroidism
Prolonged QT interval, Ventricular arrhythmia, Abnormal left ventricular function, Hyperphosphate... ORPHA:36913
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Colchicine Poisoning
Hyponatremia, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal blood ion concentratio... ORPHA:31824
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina... ORPHA:26793
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Primary amenorrhea OMIM:612526
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis OMIM:611590
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Addison Disease
Hyponatremia, Orthostatic hypotension, Premature ovarian insufficiency, Primary testicular failur... ORPHA:85138
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Hyperparathyroidism, Neonatal Severe
Calcinosis, Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:239200
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Elevated circulating c... OMIM:613095
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss ORPHA:97289
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level OMIM:613677
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Congestive heart... ORPHA:247353
Pseudohypoparathyroidism, Type Ic
Obesity, Hyperphosphatemia, Hypogonadism, Hypocalcemia, Hypocalcemic tetany OMIM:612462
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium OMIM:611489
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea OMIM:604931
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l... ORPHA:199343
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Familial Isolated Hypoparathyroidism
Arrhythmia, Hypocalcemia ORPHA:2238
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension OMIM:614651
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... OMIM:601005
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:610600
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... ORPHA:213
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal... ORPHA:276556
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperproteinemia, Tall... ORPHA:29073
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Polycystic Ovary Syndrome 1
Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypergonadotropic hypogonadism, Hypocalcemia OMIM:606407
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:203400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Hypertriglyceridemia, Hypercalcemia, Obesity ORPHA:369837
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Hypogonadism, Obesity OMIM:615981
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria OMIM:617671
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Obesity, Hypotension ORPHA:369873
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Leptin Deficiency Or Dysfunction
Decreased testicular size, Hypogonadism, Obesity, Primary amenorrhea OMIM:614962
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal... ORPHA:276575
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... ORPHA:411634
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Cholera
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo... ORPHA:173
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Large for gestational age, Decreased circulating free fat... ORPHA:324575
Refractory Celiac Disease
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Disproportionate tall stature, Palpitations, Hypertensive crisis, Hypertension ass... ORPHA:653
Parathyroid Carcinoma
Hypercalcemia, Testicular neoplasm, Shortened QT interval, Weight loss, Hypophosphatemia ORPHA:143
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity ORPHA:141333
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia ORPHA:99845
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Obesity ORPHA:329249
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Cardiomyopathy, ... ORPHA:746
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, Abnormal testis morphology, Hypogonadism, Obesity ORPHA:2233
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension, Abdominal obesity, Increased body weight OMIM:615954
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy, Incre... ORPHA:276580
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231580
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmia ORPHA:428
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hypoplasia of ... ORPHA:66628
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a... OMIM:617913
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circulating renin l... OMIM:612780
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis, Failure to thrive ORPHA:3426
Fibrous Dysplasia Of Bone
Hypercalcemia, Testicular neoplasm, Hypophosphatemia ORPHA:249
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria ORPHA:251274
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Obesity, Hyperphosphatemia, Hy... ORPHA:79444
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Hypercalcemia, Testicular neoplasm, Hypophosphatemia ORPHA:99880
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Shortened QT interval, Hematemesis, Weight loss, Melena, Hypertension, Impotence, ... ORPHA:652
Ppoma
Gastrointestinal hemorrhage, Hypercalcemia, Weight loss ORPHA:97278
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:264350
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hypoplasia of ... ORPHA:179494
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypocalcemia, Hypophosphatemia OMIM:600081
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Lo... ORPHA:86816
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hypertension, Hyperuricemia, Obesity ORPHA:77296
Adrenocortical Carcinoma
Abnormality of reproductive system physiology, Increased body weight, Weight loss, Hypertension, ... ORPHA:1501
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Vipoma
Hematochezia, Hypokalemia, Hypercalcemia, Weight loss ORPHA:97282
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Hypercalcemia, Weight loss ORPHA:913
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... ORPHA:31826
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231625
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Pseudohypoparathyroidism Type 1B
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... ORPHA:94089
Somatostatinoma
Gastrointestinal hemorrhage, Hypercalcemia, Weight loss ORPHA:97283
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Increased body weight ORPHA:276608
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Obesity, Hypertension, Hyperph... ORPHA:79443
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age, Increased circulating free fatty acid level ORPHA:293964
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Grfoma
Gastrointestinal hemorrhage, Hypercalcemia, Weight loss ORPHA:97261
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Obesity, Heart murmur, Hyperalaninemia, Hyper... OMIM:615418
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Nephrolithiasis ORPHA:369929
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity OMIM:264120
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Hypophosphatemia, Renal tubular dysfunction,... ORPHA:411629
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Mercury Poisoning
Hypokalemia, Acute kidney injury ORPHA:330021
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hematochezia, Hypoalbuminemia, Hypocalcemia, ... OMIM:618183
Glucagonoma
Gastrointestinal hemorrhage, Hypercalcemia, Weight loss ORPHA:97280
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hypocalcemia, Hypomagnese... ORPHA:73224
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Overweight, Dilated cardiomyopathy, Renovascular hypertension, Hypercholest... ORPHA:401923
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Myocarditis, Elevated cir... ORPHA:36234
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:614736
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... ORPHA:97362
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Gitelman Syndrome
Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circulating re... OMIM:263800
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Decreased testicular ... OMIM:610628
Pituitary Adenoma 4, Acth-Secreting
Obesity, Hypertension, Hypokalemia, Abdominal obesity, Oligomenorrhea OMIM:219090
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia ORPHA:57
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Williams Syndrome
Failure to thrive in infancy, Hypercalcemia, Elevated circulating creatine kinase concentration, ... ORPHA:904
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Obesity OMIM:600151
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Failure to thrive, Small for gestational age, Hypocalcemia OMIM:607143
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Increased body weight ORPHA:589905
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Obesity OMIM:103580
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia, Obesity OMIM:617885
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia OMIM:602361
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentration, Increased ... ORPHA:263455
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Celiac Disease, Susceptibility To, 1
Infertility, Failure to thrive, Hypocalcemia, Weight loss OMIM:212750
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Cystinosis, Nephropathic
Hyponatremia, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypomagnesemia, Stag... OMIM:219800
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Osteootohepatoenteric Syndrome
Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration OMIM:619377
Bardet-Biedl Syndrome
Cryptorchidism, Obesity, Hypertension, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia OMIM:259700
Perrault Syndrome 4
Premature ovarian insufficiency, Obesity, Secondary amenorrhea, Primary amenorrhea, Disproportion... OMIM:615300
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Hypomagnesemia, Hypermagnesemia, Low-to-normal blood p... ORPHA:358
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperpho... ORPHA:466650
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Decr... ORPHA:90795
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Increased body weight OMIM:615830
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Sanjad-Sakati Syndrome
Cryptorchidism, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Small for gestational age, Hypocalcemia OMIM:127000
Williams-Beuren Syndrome
Failure to thrive in infancy, Hypercalcemia, Portal hypertension, Obesity, Hypertension, Mitral r... OMIM:194050
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Testicular neoplasm ORPHA:276152
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
Sarcoidosis
Abnormal cardiac ventricular function, Hypercalcemia, Portal hypertension, Heart block, Ventricul... ORPHA:797
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... ORPHA:427
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Hypertension, Obesity ORPHA:69663
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperlipidemia, Irregular menstruation, Increased body weight, Hypertension, Abdominal obesity, A... ORPHA:189427
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Hypovolemia, Obesity, E... ORPHA:90041
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... ORPHA:79102
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca... ORPHA:37042
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Hypoproteinemia, Hypocalcemia OMIM:235255
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... OMIM:617595
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Hypokalemia, Micropenis, Increased urinary 11-deoxycorticosterone level, Decreased c... ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Long penis, Decreased circulating renin level OMIM:202010
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Irregular... ORPHA:264580
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Hypokalemia, Long penis, Increased C-peptide level ORPHA:769
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:600955
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Pearson Syndrome
Renal insufficiency, Proteinuria, Hypomagnesemia, Lacticaciduria, Renal cyst, Hypophosphatemia, H... ORPHA:699
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Hypertensive crisis ORPHA:544482
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... ORPHA:70591
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Hypoproteinemia, Hypocalcemia ORPHA:1655
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... OMIM:201810
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tubular acidosis, N... ORPHA:534
Sheehan Syndrome
Hyponatremia, Dyspareunia, Orthostatic hypotension, Decreased female libido, Obesity, Impotence, ... ORPHA:91355
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Cartilage-Hair Hypoplasia
Heart block, Cardiomyopathy, Failure to thrive, Hypocalcemia ORPHA:175
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Insulinoma
Increased body weight, Palpitations ORPHA:97279
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Obesity, Increase... ORPHA:412
Wilson Disease
Failure to thrive, Increased body weight, Abnormality of the menstrual cycle, Weight loss ORPHA:905
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... ORPHA:79240
Isotretinoin-Like Syndrome
Aortic valve stenosis, Hypocalcemia ORPHA:2306
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypouricemia, Hypophosphatemia OMIM:616026
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Portal hypertension, Hypoalbuminemia, Hypocalcemia, Unconjugated hyper... OMIM:613658
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... ORPHA:423
Sotos Syndrome
Hypercalcemia, Cryptorchidism, Decreased fertility, Hydrocele testis, Tall stature ORPHA:821
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Cryptorchidism, Obesity, Hypocalcemia, Failure to thrive, Corneal ne... ORPHA:567
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:786
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, P... ORPHA:90791
Nelson Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:199244
Leprechaunism
Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Enl... ORPHA:508
Velocardiofacial Syndrome
Cryptorchidism, Hypocalcemia OMIM:192430
Mirage Syndrome
Hyponatremia, Hyperkalemia, Hypospadias, Microphallus OMIM:617053
Scorpion Envenomation
Ketonuria, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase M... ORPHA:466677
Osteopetrosis With Renal Tubular Acidosis
Pulmonary arterial hypertension, Hypocalcemia, Failure to thrive, Elevated circulating creatine k... ORPHA:2785
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Craniofacioskeletal Syndrome
Cryptorchidism, Hypocalcemia OMIM:300712
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Marburg Hemorrhagic Fever
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... ORPHA:99826
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Familial Glucocorticoid Deficiency
Hyponatremia, Hypernatriuria, Hyperkalemia, Renal salt wasting ORPHA:361
Cushing Disease
Myocardial infarction, Increased body weight, Secondary amenorrhea, Hypertension, Capillary fragi... ORPHA:96253
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Increased body weight, Primary amenorrhea, Abdominal obesity, Hypogonadism, Infer... ORPHA:398069
Hellp Syndrome
Cerebral hemorrhage, Increased body weight, Internal hemorrhage, Hypotension ORPHA:244242
Sotos Syndrome
Cryptorchidism, Overgrowth, Increased body weight, Tall stature OMIM:117550
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Hypocalcemia, Hypophosphatemia ORPHA:667
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration OMIM:619573
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating fatty-acid concentration, Increased body weight,... ORPHA:2298
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr... ORPHA:289548
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... ORPHA:340
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Decreased testicular size, Hypocalcemic seizures ORPHA:93325
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Failure to thrive ORPHA:83471
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Abnormal urine potassium concentration, H... ORPHA:275761
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Portal hypertension, Cryptorchidism, Ischemic stroke, Hypocalcemia, Hypomagnesemia, Failure to th... OMIM:619503
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Digeorge Syndrome
Hydrocele testis, Hypocalcemia, Obesity OMIM:188400
Johanson-Blizzard Syndrome
Small for gestational age, Portal hypertension, Increased VLDL cholesterol concentration, Conjuga... OMIM:243800
Carney Complex
Sertoli cell neoplasm, Testicular neoplasm, Congestive heart failure, Increased body weight, Test... ORPHA:1359
Cushing Syndrome Due To Ectopic Acth Secretion
Myocardial infarction, Increased body weight, Secondary amenorrhea, Weight loss, Hypertension, Ca... ORPHA:99889
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia ORPHA:293978
Charge Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Hypocalcemia, Pulmonic stenosis OMIM:214800
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cystocele, Renovascular hypertension, Bladder diverticulum, Hypokalemia ORPHA:286
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Enuresis, Hyperlipidemia, Hyperkalemia ORPHA:293987
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hypospadias, Hyperkalemia, Horseshoe kidney, Micropenis, Chordee, Vesicovaginal fis... OMIM:201750

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 Pdgfd

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 Pdgfd.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pdgfdem1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Pdgfdtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pdgfdtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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