Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating potassium level Pdgfdem1(IMPC)Ccpcz HOM Early adult 6.23×10-05
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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Viewing: all phenotypes

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 Hind Leg and Hip

34 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

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
Hypertension, Obesity, Hypercholesterolemia, 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
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Congestive heart failure, Increased LDL cholesterol conc... OMIM:615703
Adamantinoma
Hypercalcemia ORPHA:55881
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level OMIM:614492
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Rhabdoid Tumor
Hypertension, Weight loss, Hypercalcemia, Internal hemorrhage ORPHA:69077
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Blue Diaper Syndrome
Increased body weight, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... OMIM:179800
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94090
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Failure to thrive,... OMIM:601678
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Failure to thrive OMIM:239199
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypercalcemia, Infantile, 1
Weight loss, Hypercalcemia, Failure to thrive OMIM:143880
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia ORPHA:71529
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Liddle Syndrome
Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Failure to thrive, Shock, Tall stature, Abnormality of the menstrual cycle, Decrease... ORPHA:90794
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypocalcemic seizures, Male infertility ORPHA:2239
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Failure to thrive,... OMIM:241200
Paternal Uniparental Disomy Of Chromosome 1
Hypertension, Obesity, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria OMIM:602722
Bartter Syndrome Type 4
Small for gestational age, Failure to thrive, Hypomagnesemia, Hypokalemia, Hyponatremia, Severe f... ORPHA:89938
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Liddle Syndrome 1
Hypokalemia, Renal insufficiency, Decreased circulating renin level OMIM:177200
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Monosomy 13Q34
Hematochezia, Epistaxis, Obesity, Metrorrhagia, Hypercalcemia, Pulmonic stenosis ORPHA:96168
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Glucose-Galactose Malabsorption
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia ORPHA:35710
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia, Failure to thrive ORPHA:163693
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Acute Adrenal Insufficiency
Hypotension, Failure to thrive, Decreased female libido, Hyperuricemia, Hyponatremia, Hypovolemia... ORPHA:95409
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Proximal renal tubular ... OMIM:604278
Late-Onset Isolated Acth Deficiency
Hypotension, Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Orthostatic hypotension... ORPHA:199299
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Intracranial hemorrhage, Hypercalcemia, Failure to thrive OMIM:241500
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Failure to thrive ORPHA:172
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hypert... OMIM:618620
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Oculoskeletodental Syndrome
Lacunar stroke, Small for gestational age, Hypercalcemia, Hypocalcemia OMIM:618440
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... ORPHA:45452
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Ventricular arrhythm... ORPHA:36913
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Colchicine Poisoning
Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Hypokalem... ORPHA:31824
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Lipodystrophy, Congenital Generalized, Type 3
Primary amenorrhea, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Obes... ORPHA:26793
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Isothenuria OMIM:611590
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:268200
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentra... OMIM:611489
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Addison Disease
Hypotension, Failure to thrive, Decreased female libido, Hyperuricemia, Hyponatremia, Weight loss... ORPHA:85138
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... ORPHA:66529
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:613095
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia ORPHA:97289
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Failure to thrive, Calcinosis OMIM:239200
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia 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
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypogonadism, Hypocalcemic tetany, Obesity, Hypocalcemia OMIM:612462
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level OMIM:613677
Generalized Pustular Psoriasis
Hypoalbuminemia, Congestive heart failure, Obesity, Hypocalcemia, Hyponatremia, Elevated circulat... ORPHA:247353
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea OMIM:604931
Obesity Due To Sim1 Deficiency
Hypotension, Obesity, Postural hypotension with compensatory tachycardia ORPHA:369873
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Renal sodium... ORPHA:199343
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Familial Isolated Hypoparathyroidism
Arrhythmia, Hypocalcemia ORPHA:2238
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Obesity, Mitral regurgitation, Pulmonary arterial hypertension, Overweight OMIM:614651
Timothy Syndrome
Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tachycardia, B... OMIM:601005
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal u... ORPHA:320
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes... OMIM:615812
Polycystic Ovary Syndrome 1
Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:610600
Nephronophthisis 2
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:602088
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Dilated cardiomyopathy OMIM:615981
Narcolepsy Type 1
Male sexual dysfunction, Female sexual dysfunction, Obesity, Syncope, Hypertension ORPHA:2073
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Hypokalemia, Proteinu... ORPHA:213
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Syncope, Tachycardia, Incre... ORPHA:276556
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Hypocalcemia, Failure to thrive OMIM:606407
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia OMIM:175500
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:203400
Multiple Myeloma
Elevated circulating creatinine concentration, Tall stature, Weight loss, Hyperproteinemia, Hyper... ORPHA:29073
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Failure to thrive ORPHA:476126
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria OMIM:617671
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Restrictive cardiomyopathy, Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94089
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glycosuria, Hyperbi... OMIM:227810
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Syncope, Tachycardia, Incre... ORPHA:276575
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hypomagnesemia, Hypocalc... ORPHA:94093
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... ORPHA:411634
Cholera
Hypovolemic shock, Hypotension, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion conce... ORPHA:173
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Palpitations, Syncope, Increased C-peptide level, Tachycardia, Small f... ORPHA:324575
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia ORPHA:398063
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Palpitations, Hypertension associated with pheochromocytoma, Hypercalcemia, ... ORPHA:653
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity ORPHA:141333
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Primary amenorrhea OMIM:614962
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Hypocalcemia, Arrhythmia, Hyperkalemia, Highly elevated creatine kinase ORPHA:99845
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Primary Fanconi Renotubular Syndrome
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... ORPHA:3337
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Hypertension, Abdominal obesity OMIM:615954
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Syncope, Tachycardia, Incre... ORPHA:276580
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Failure to thrive in infancy, Tricuspid regurgitation, ... ORPHA:746
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria ORPHA:251274
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Increased urinary potassium, Decreased circulating renin level ORPHA:231580
Parathyroid Carcinoma
Shortened QT interval, Hypophosphatemia, Hypercalcemia, Weight loss ORPHA:143
Autosomal Dominant Hypocalcemia
Hypotension, Hyperphosphatemia, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Arrhythmia ORPHA:428
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hypokalem... OMIM:617913
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Polyuria, Renal salt ... OMIM:612780
Double Outlet Right Ventricle
Failure to thrive, Heart murmur, Hypocalcemia, Tachycardia, Pulmonic stenosis ORPHA:3426
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level ORPHA:556037
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Multiple Endocrine Neoplasia Type 1
Impotence, Decreased male libido, Shortened QT interval, Hypertension, Amenorrhea, Weight loss, H... ORPHA:652
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia, Failure to thrive OMIM:600081
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Oligomenorrhea, Calcinosis, Prolon... ORPHA:79444
Ppoma
Gastrointestinal hemorrhage, Weight loss, Hypercalcemia ORPHA:97278
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:264350
Obesity Due To Congenital Leptin Deficiency
Obesity, Hypertriglyceridemia, Orthostatic hypotension due to autonomic dysfunction, Hypoplasia o... ORPHA:66628
Adrenocortical Carcinoma
Palpitations, Hypokalemia, Increased body weight, Weight loss, Hypertension, Abnormality of repro... ORPHA:1501
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat... ORPHA:86816
Morgagni-Stewart-Morel Syndrome
Hypertension, Obesity, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
X-Linked Agammaglobulinemia
Weight loss, Hypocalcemia, Failure to thrive ORPHA:47
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Weight loss, Hypercalcemia ORPHA:913
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Increased urinary potassium, Decreased circulating renin level ORPHA:231625
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Hypertriglyceridemia, Orthostatic hypotension due to autonomic dysfunction, Hypoplasia o... ORPHA:179494
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Hypocalcemia, Prolonged QT interval, Atrial fibrill... ORPHA:31826
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Tachycardia ORPHA:276608
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Failure to thrive OMIM:264700
Somatostatinoma
Gastrointestinal hemorrhage, Weight loss, Hypercalcemia ORPHA:97283
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia, Shortened QT interval ORPHA:99880
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level ORPHA:556030
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Oligomenorrhea, Calcinosis, Prolon... ORPHA:79443
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Nephrolithiasis ORPHA:369929
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Obesity, Elevated circulating creatine kinase concentration, Hyperal... OMIM:615418
Grfoma
Gastrointestinal hemorrhage, Weight loss, Hypercalcemia ORPHA:97261
Mercury Poisoning
Hypokalemia, Acute kidney injury ORPHA:330021
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:614736
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia ORPHA:90362
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Glucagonoma
Gastrointestinal hemorrhage, Weight loss, Hypercalcemia ORPHA:97280
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypomagnesemia, Hypocalcemic tetany, Hypocalcem... ORPHA:73224
Vipoma
Hypokalemia, Weight loss, Hypercalcemia ORPHA:97282
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hypotension, Shock, Elevated circulating creatinine concentration, Hypocalcemia,... ORPHA:36234
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Nocturia... OMIM:263800
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Renovascular hypertension, Hypercholesterolemia, Ov... ORPHA:401923
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Obesity OMIM:600151
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Williams Syndrome
Abnormal circulating lipid concentration, Congestive heart failure, Failure to thrive in infancy,... ORPHA:904
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Cardiomyopathy, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Pseudohypoparathyroidism, Type Ia
Hypogonadism, Hypocalcemic tetany, Obesity, Hyperphosphatemia OMIM:103580
Pituitary Adenoma 4, Acth-Secreting
Obesity, Hypokalemia, Oligomenorrhea, Abdominal obesity, Hypertension OMIM:219090
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Gracile Bone Dysplasia
Hypocalcemia, Failure to thrive OMIM:602361
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Perrault Syndrome 4
Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Premature ovarian insuffici... OMIM:615300
Osteootohepatoenteric Syndrome
Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration OMIM:619377
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Aminoaciduria, Genera... OMIM:219800
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hypophosphatemic rickets, Increased body weight, Abnormal circulating ... ORPHA:263455
Celiac Disease, Susceptibility To, 1
Infertility, Weight loss, Hypocalcemia, Failure to thrive OMIM:212750
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypocalcemia, Failure to thrive OMIM:607143
Gitelman Syndrome
Hypermagnesemia, Prominent U wave, Failure to thrive, Hypomagnesemia, Abnormal T-wave, Palpitatio... ORPHA:358
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo... ORPHA:466650
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Hypertension OMIM:615830
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Failure to thrive OMIM:259700
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy... ORPHA:90795
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Abnormal spermatogenes... ORPHA:261529
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Hypomagnesemia, Decreased urinary potassium, Transient h... ORPHA:79102
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Sarcoidosis
Portal hypertension, Arrhythmia, Weight loss, Abnormal cardiac ventricular function, Ventricular ... ORPHA:797
Gaisböck Syndrome
Elevated diastolic blood pressure, Obesity, Hyperuricemia, Hypovolemia, Angina pectoris, Hypercho... ORPHA:90041
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt wasting, H... ORPHA:427
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Abnormal libido, Hyperlipidemia, Increased body weight, Abdominal obesity... ORPHA:189427
Low Phospholipid-Associated Cholelithiasis
Hypertension, Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, Decreased circulatin... ORPHA:37042
Williams-Beuren Syndrome
Failure to thrive in infancy, Obesity, Supravalvular aortic stenosis, Mitral regurgitation, Porta... OMIM:194050
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Failure to th... OMIM:248250
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Birk-Landau-Perez Syndrome
Renal hypoplasia, Stage 3 chronic kidney disease, Renal insufficiency, Increased circulating crea... OMIM:617595
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Failure to thrive, Cardiomyopathy, Elevated circulating creatine kinase c... ORPHA:264580
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, M... ORPHA:90793
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Long penis, Decreased circulating renin level OMIM:202010
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:600955
Smith-Magenis Syndrome
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Rabson-Mendenhall Syndrome
Hypokalemia, Nephrocalcinosis, Long penis, Increased C-peptide level ORPHA:769
Chronic Thromboembolic Pulmonary Hypertension
Increased HDL cholesterol concentration, Right ventricular failure, Pulmonary embolism, Congestiv... ORPHA:70591
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Hypocalcemia, Hyponatremia, Myocarditis, Hyperkalemia, Hypertension ORPHA:544482
Pearson Syndrome
Glycosuria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Proteinuria, Renal cy... ORPHA:699
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Hyponatremia, Penoscrotal hypospadias, Micropenis, Perineal hypospadias, Hyperkalem... OMIM:201810
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Sheehan Syndrome
Obesity, Palpitations, Decreased female libido, Hyponatremia, Amenorrhea, Oligomenorrhea, Orthost... ORPHA:91355
Oculocerebrorenal Syndrome Of Lowe
Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insuf... ORPHA:534
Cartilage-Hair Hypoplasia
Cardiomyopathy, Hypocalcemia, Failure to thrive, Heart block ORPHA:175
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Insulinoma
Increased body weight, Palpitations ORPHA:97279
Wilson Disease
Increased body weight, Abnormality of the menstrual cycle, Weight loss, Failure to thrive ORPHA:905
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Elevated circulating creatine kinase concentration, Increased body weight... ORPHA:79240
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Angina pectoris, Hypercho... ORPHA:412
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Failure to thrive, Slender build, Portal hypertension, Hypocalcemia, Unconjugate... OMIM:613658
Aromatase Deficiency
Female infertility, Tall stature, Obesity, Eunuchoid habitus, Hyperlipidemia, Hypergonadotropic h... ORPHA:91
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Large for gestational age, Hypophosphatemia OMIM:616026
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... ORPHA:423
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Heart murmur, Intracranial hemorrhage, Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Mody
Obesity, Abnormal circulating C-peptide concentration, Large for gestational age, Elevated hemogl... ORPHA:552
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia, Hypospadias, Increased c... ORPHA:90791
Sotos Syndrome
Tall stature, Hypercalcemia, Decreased fertility ORPHA:821
Mirage Syndrome
Hyponatremia, Hyperkalemia, Hypospadias, Microphallus OMIM:617053
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Increased urinary cortisol level ORPHA:786
Nelson Syndrome
Hypokalemia, Increased urinary cortisol level ORPHA:199244
Leprechaunism
Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged kidney, Increased circulating... ORPHA:508
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria, Hypokalemia, Increased circulating creatine kinase MB... ORPHA:466677
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Failure to thrive, Obesity, Corneal neovascular... ORPHA:567
Familial Glucocorticoid Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Hypernatriuria ORPHA:361
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Cushing Disease
Abnormal libido, Secondary amenorrhea, Capillary fragility, Increased body weight, Amenorrhea, Ol... ORPHA:96253
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Osteopetrosis With Renal Tubular Acidosis
Pulmonary arterial hypertension, Hypocalcemia, Failure to thrive, Elevated circulating creatine k... ORPHA:2785
Hellp Syndrome
Increased body weight, Hypotension, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia OMIM:619573
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Liver Disease, Severe Congenital
Failure to thrive, Increased circulating ferritin concentration, Systolic heart murmur, Hyperbili... OMIM:619991
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Hypophosphatemia, Hypocalcemia ORPHA:667
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Hypogonadism, Increased body weight, Abdominal obesity, Primary amenorrhea, In... ORPHA:398069
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Sotos Syndrome
Increased body weight, Tall stature, Overgrowth OMIM:117550
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Abnormality of bo... ORPHA:2298
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... ORPHA:289548
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Lysosomal Acid Lipase Deficiency
Hypernatriuria, Abnormal urine potassium concentration, Hyponatremia, Hypercholesterolemia, Hyper... ORPHA:275761
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Failure to thrive ORPHA:83471
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Hypomagnesemia, Ischemic stroke, Portal hypertension, Hypocalcemia OMIM:619503
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal libido, Secondary amenorrhea, Capillary fragility, Increased body weight, Amenorrhea, We... ORPHA:99889
Digeorge Syndrome
Obesity, Hypocalcemia OMIM:188400
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Failure to thrive, Portal hypertension, Hypocalcemia, Increased VLDL chol... OMIM:243800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Vascular Ehlers-Danlos Syndrome
Cystocele, Hypokalemia, Bladder diverticulum, Renovascular hypertension, Hypospadias ORPHA:286
Charge Syndrome
Hypogonadotropic hypogonadism, Hypocalcemia, Pulmonic stenosis OMIM:214800
Carney Complex
Abnormal sperm motility, Congestive heart failure, Tall stature, Increased body weight, Oligozoos... ORPHA:1359
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Vesicovaginal fistula, Horseshoe kidney, Decreased circulating renin level, Hyponatremia, Chordee... 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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