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 3.64×10-05
abnormal kidney morphology Pdgfdem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal urinary bladder morphology Pdgfdem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Pdgfdem1(IMPC)Ccpcz HOM Early adult 4.54×10-05

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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

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral 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 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
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 Iic
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Morbid Obesity And Spermatogenic Failure
Infertility, Hypercholesterolemia, Azoospermia, Oligospermia, Hypertension, Hypertriglyceridemia,... OMIM:615703
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Failure to thrive, Hypochloremia OMIM:214700
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Conge... OMIM:171420
Rhabdoid Tumor
Hypertension, Weight loss, Hypercalcemia, Internal hemorrhage ORPHA:69077
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperchloriduria OMIM:613090
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Episodic hypokalemia, Renal magnesium wasting, Hypomagnesemia, Nephrocal... ORPHA:564178
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hypercalcemia, Infantile, 1
Weight loss, Pulmonic stenosis, Aortic valve stenosis, Failure to thrive, Infantile hypercalcemia OMIM:143880
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hypertension, Obesity ORPHA:71529
Bartter Syndrome, Type 1, Antenatal
Low-to-normal blood pressure, Increased circulating renin level, Increased serum prostaglandin E2... OMIM:601678
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Narcolepsy Type 1
Obesity, Syncope ORPHA:2073
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Failure to thrive OMIM:239199
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperchloriduria OMIM:602522
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypomagnesemia, Male infertility, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Obesity OMIM:603233
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia, Polyuria, Hydronephrosis OMIM:304900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormality of the menstrual cycle, Oligomenorrhea, Hypovolemia, Hypotension, Hyponatremia, Decre... ORPHA:90794
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Proximal tubulopathy, Increased serum prostaglandin E2, Increas... OMIM:241150
Renal Tubular Acidosis Iii
Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Hypokalemia OMIM:267200
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Liddle Syndrome 3
Hypokalemia OMIM:618126
Liddle Syndrome
Renal insufficiency, Hypokalemia, Nephropathy ORPHA:526
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Conge... OMIM:171300
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bartter Syndrome, Type 2, Antenatal
Low-to-normal blood pressure, Increased circulating renin level, Increased serum prostaglandin E2... OMIM:241200
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Hypertension, Obesity ORPHA:251004
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy ORPHA:436
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hypomagnesemia 2, Renal
Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:602722
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss ORPHA:35710
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
2P21 Microdeletion Syndrome
Hypocalcemia, Hypogonadism, Failure to thrive ORPHA:163693
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Renal insufficiency, Re... OMIM:134600
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Hypokalemia, Small for gestational age, Failure ... ORPHA:89938
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Hypophosphatasia, Infantile
Intracranial hemorrhage, Elevated plasma pyrophosphate, Hypercalcemia, Failure to thrive OMIM:241500
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Hyperuricemia, Increased circula... ORPHA:95409
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Hypertension, Myocardial infarction, Truncal obesity, Abdominal obesity OMIM:615812
Monosomy 13Q34
Hematochezia, Epistaxis, Pulmonic stenosis, Metrorrhagia, Infantile hypercalcemia, Obesity ORPHA:96168
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Failure to thrive ORPHA:172
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Hyponatremia, Hyperuricemia, Weight loss, Hypercalcemia, Fa... ORPHA:199299
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Short metatarsal, Short phalanx of finger, Toe syndactyly, Short metacarpal, Cl... OMIM:170390
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Small for gestational age, Lacunar stroke OMIM:618440
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertension, Hypertriglyceridemia, Myocardial infarction, Decreased HDL... OMIM:618620
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Primary amenorrhea OMIM:612526
Mastocytosis
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Telangiectasia of the skin, Hypercalcemia ORPHA:98292
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Liddle Syndrome 1
Decreased circulating renin level, Renal insufficiency, Hypokalemia OMIM:177200
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Cortisone Reductase Deficiency 1
Obesity, Infertility, Oligomenorrhea OMIM:604931
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Hypocalcemia, Abnormal left ventricular function, Hypocalcemic tetany, Pr... ORPHA:36913
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:611590
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Addison Disease
Orthostatic hypotension, Hypotension, Hyponatremia, Hyperuricemia, Increased circulating renin le... ORPHA:85138
Alpha-Heavy Chain Disease
Hypocalcemia, Premature ovarian insufficiency ORPHA:100025
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Dilated cardiomyopathy, Overweight, Ventricular tachyc... ORPHA:26793
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia, Failure to thrive OMIM:239200
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Hypertrophic cardiomyopathy OMIM:615418
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss ORPHA:97289
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Obesity ORPHA:369873
Familial Isolated Hypoparathyroidism
Hypocalcemia, Arrhythmia ORPHA:2238
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Hypouricemia, Glycosuria, Hypokal... OMIM:227810
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Clubbing of fingers, Hypocalcemia, Hypokalemia, Hypomagnesemia, Clubbing OMIM:175500
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypercalciuria, Hypokalemia, Polyuria OMIM:613677
Hyperostosis Frontalis Interna
Irregular menstruation, Obesity OMIM:144800
East Syndrome
Enuresis, Renal salt wasting, Increased circulating renin level, Renal sodium wasting, Hypokalemi... ORPHA:199343
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Timothy Syndrome
Hypocalcemia, Bradycardia, Prolonged QT interval OMIM:601005
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Syncope, Increased C-peptide level, Tachycardia, Large for gestational age, Decreas... ORPHA:276556
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Hypocalcemia, Failure to thrive OMIM:606407
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Polycystic Ovary Syndrome 1
Obesity, Amenorrhea, Oligomenorrhea OMIM:184700
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Apparent Mineralocorticoid Excess
Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal urine sodium concen... ORPHA:320
Summitt Syndrome
Obesity OMIM:272350
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation, Obesity OMIM:614651
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Cholera
Hypocalcemia, Hypotension, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Tachycard... ORPHA:173
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Abnormality of long bone morphology, Low... ORPHA:411634
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Hepatocellular Carcinoma
Internal hemorrhage, Hypotension, Hyperbilirubinemia, Hyponatremia, Budd-Chiari syndrome, Weight ... ORPHA:88673
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Syncope, Increased C-peptide level, Tachycardia, Large for gestational age, Decreas... ORPHA:276575
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Spontaneous ab... ORPHA:86816
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Hypogonadism, Obesity OMIM:615981
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level, Renal salt wasting OMIM:610600
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Increased C-peptide level, Tachycardia, Small for gestational age, Large for gestat... ORPHA:324575
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Polyuria, Hypokalemia, Renal insufficiency, Nephrolithiasis OMIM:617671
Cystinosis
Hypophosphatemia, Aminoaciduria, Nephropathy, Hypokalemia, Renal insufficiency, Renal tubular dys... ORPHA:213
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Restrictive cardiomyopathy, Obesity ORPHA:369837
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertension associated with pheochromocytoma, Disproportionate tall stature, Hyper... ORPHA:653
Primary Parathyroid Hyperplasia
Hypophosphatemia, Shortened QT interval, Hypercalcemia ORPHA:99878
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Obesity ORPHA:141333
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Failure to thrive ORPHA:476126
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level, Renal salt wasting OMIM:203400
Parathyroid Carcinoma
Hypophosphatemia, Shortened QT interval, Weight loss, Hypercalcemia, Infantile hypercalcemia ORPHA:143
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Polyuria, Increased urinary potassium, Renal salt wasting... OMIM:607364
Neuroleptic Malignant Syndrome
Hypocalcemia, Arrhythmia, Hypotension, Hypernatremia, Hyponatremia, Elevated circulating creatine... ORPHA:94093
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Multiple Myeloma
Elevated circulating creatinine concentration, Tall stature, Weight loss, Hyperproteinemia, Hyper... ORPHA:29073
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Increased circula... OMIM:612780
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Syncope, Increased C-peptide level, Tachycardia, Large for gestational age, Hypertr... ORPHA:276580
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Arrhythmia, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart... ORPHA:746
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia, Nephrolithiasis OMIM:615474
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Leptin Deficiency Or Dysfunction
Hypogonadism, Primary amenorrhea, Obesity OMIM:614962
Double Outlet Right Ventricle
Hypocalcemia, Pulmonic stenosis, Heart murmur, Tachycardia, Failure to thrive ORPHA:3426
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Hypertension, Abdominal obesity OMIM:615954
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Hypokalemia ORPHA:251274
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Shortened QT interval, Hypercalcemia, Hypophosphatemia ORPHA:99880
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Obesity OMIM:617885
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Autosomal Dominant Hypocalcemia
Hypocalcemia, Arrhythmia, Hypotension, Congestive heart failure, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Ppoma
Weight loss, Hypercalcemia, Gastrointestinal hemorrhage ORPHA:97278
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Oligomenorrhea, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Calcinosis, Pr... ORPHA:79444
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Decreased fertility, Obesity ORPHA:2233
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Multiple Endocrine Neoplasia Type 1
Amenorrhea, Shortened QT interval, Hematemesis, Impotence, Hypertension, Melena, Weight loss, Hyp... ORPHA:652
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231580
Zollinger-Ellison Syndrome
Weight loss, Hypercalcemia, Gastrointestinal hemorrhage, Hematochezia ORPHA:913
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycard... ORPHA:31826
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Increased body weight ORPHA:276608
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hypergonadotropic hypogonadism, Primary ame... ORPHA:66628
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Somatostatinoma
Weight loss, Hypercalcemia, Gastrointestinal hemorrhage ORPHA:97283
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Renal sodium wasting, Hyponatremia, Increased circulating renin level ORPHA:556037
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Oligomenorrhea, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Hypertension, ... ORPHA:79443
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hypogonadism, Hyperphosphatemia, Obesity OMIM:612462
X-Linked Agammaglobulinemia
Hypocalcemia, Failure to thrive, Weight loss ORPHA:47
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity OMIM:609734
Grfoma
Weight loss, Hypercalcemia, Gastrointestinal hemorrhage ORPHA:97261
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hypergonadotropic hypogonadism, Primary ame... ORPHA:179494
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Nephrolithiasis ORPHA:369929
Juvenile Polyposis Syndrome
Clubbing, Hypokalemia, Hypoalbuminemia OMIM:174900
Adrenocortical Carcinoma
Palpitations, Weight loss, Hypertension, Abnormality of reproductive system physiology, Hypokalem... ORPHA:1501
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231625
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:264350
Joubert Syndrome 32
Large for gestational age, Tall stature, Hypertrophic cardiomyopathy OMIM:617757
Glucagonoma
Weight loss, Hypercalcemia, Gastrointestinal hemorrhage ORPHA:97280
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Vipoma
Hypokalemia, Hypercalcemia, Weight loss ORPHA:97282
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Renal sodium wasting, Hyponatremia, Increased circulating renin level ORPHA:556030
Gitelman Syndrome
Hypocalciuria, Nocturia, Renal potassium wasting, Polyuria, Enuresis, Increased circulating renin... OMIM:263800
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity OMIM:610628
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Small for gestational age, Failure to thrive OMIM:607143
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight, Aortic regurgitation, Renovascular hypertension, Dilated cardio... ORPHA:401923
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypotension, Elevated circulating creatinine concentration, Tachycardia, Hypoalbumi... ORPHA:36234
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hypogonadism, Hyperphosphatemia, Obesity OMIM:103580
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Dilated cardiomyopathy, Hypocalcemic tetany, Sudden cardiac death, Congestive heart... ORPHA:73224
Mercury Poisoning
Hypokalemia, Acute kidney injury ORPHA:330021
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hematochezia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Abnormal bl... ORPHA:411629
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Abnormal circulating fatty-acid concentration, Tachycardia, Increased b... ORPHA:263455
Birk-Landau-Perez Syndrome
Renal insufficiency, Tubulointerstitial nephritis, Hyperkalemia OMIM:617595
Pituitary Adenoma 4, Acth-Secreting
Oligomenorrhea, Hypertension, Hypokalemia, Abdominal obesity, Obesity OMIM:219090
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia, Acute kidney injury, Myoglobinuria ORPHA:57
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Failure to thrive, Hypocalcemic seizures ORPHA:289157
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Decreased fertility, Eunuchoid habitus, Obesity ORPHA:2234
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Abnormal circulating lipid concentration, Obesity ORPHA:3191
Williams Syndrome
Renovascular hypertension, Supravalvular aortic stenosis, Abnormal circulating lipid concentratio... ORPHA:904
Cushing Disease
Hypokalemia, Nephrolithiasis ORPHA:96253
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Weight loss, Hypoalbuminemia, Failure to thrive ORPHA:90362
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Obesity ORPHA:34527
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Failure to thrive OMIM:259700
Rabson-Mendenhall Syndrome
Long penis, Polydactyly, Increased C-peptide level, Hypokalemia, Nephrocalcinosis ORPHA:769
Gitelman Syndrome
Hypocalcemia, Palpitations, Hypermagnesemia, Low-to-normal blood pressure, ST segment depression,... ORPHA:358
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia, Failure to thrive ORPHA:437
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Obesity OMIM:600151
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Supraventricular arrhythmia, Ventricular escape rhythm, Sudden cardiac de... ORPHA:98855
Celiac Disease, Susceptibility To, 1
Infertility, Hypocalcemia, Failure to thrive, Weight loss OMIM:212750
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Abn... ORPHA:466650
Perrault Syndrome 4
Oligomenorrhea, Disproportionate tall stature, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:615300
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Hypertension OMIM:615830
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Supraventricular arrhythmia, Ventricular escape rhythm, Sudden cardiac de... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Supraventricular arrhythmia, Ventricular escape rhythm, Sudden cardiac de... ORPHA:261
Gracile Bone Dysplasia
Hypocalcemia, Failure to thrive OMIM:602361
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Long penis, Renal salt wasting, Increased urinary 11-deoxycorticosterone level, Decreased circula... ORPHA:90795
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
Mirage Syndrome
Overlapping fingers, Radial club hand, Rocker bottom foot, Microphallus, Hyponatremia, Hypospadia... OMIM:617053
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Small for gestational age, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity OMIM:600955
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Bardet-Biedl Syndrome
Hypogonadism, Hypoplasia of the ovary, Hypertension, Obesity ORPHA:110
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyponatremia, Hemoglo... ORPHA:90038
Thyrotoxic Periodic Paralysis
Mildly elevated creatine kinase, Transient hypophosphatemia, Urinary retention, Episodic hypokale... ORPHA:79102
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Williams-Beuren Syndrome
Hypertension, Failure to thrive in infancy, Pulmonic stenosis, Hypercalcemia, Supravalvular aorti... OMIM:194050
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Renal salt wasting, Proximal renal tubular acido... ORPHA:427
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Oligomenorrhea, Irregular menstruation, Hypertriglyceridemia, Increased bod... ORPHA:264580
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Failure to thrive in ... ORPHA:37042
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Genu valgum, Hypoammonemia, Multiple renal cysts, Hematuria, Hypercholesterolem... ORPHA:534
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Long penis, Hypokalemia OMIM:202010
Sarcoidosis
Arrhythmia, Abnormal cardiac ventricular function, Weight loss, Ventricular tachycardia, Hypercal... ORPHA:797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, H... ORPHA:90793
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Hypocalcemia, Hypoalbuminemia, Failure to thrive, Portal hypertension OMIM:613658
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Oligomenorrhea, Amenorrhea, Hyponatremia, Impotence, Dyspa... ORPHA:91355
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Lacticaciduria, Glycosuria, Hypokalemia, Renal cyst, Hyperalanine... ORPHA:699
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hypertensive crisis, Hyponatremia, Hypertension, Myocarditis, Hyperkalemia ORPHA:544482
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Increased HDL cholesterol concentration, Cardiac shunt, ... ORPHA:70591
Wilson Disease
Abnormality of the menstrual cycle, Failure to thrive, Increased body weight, Weight loss ORPHA:905
Aromatase Deficiency
Hypergonadotropic hypogonadism, Primary amenorrhea, Tall stature, Female infertility, Male infert... ORPHA:91
Leprechaunism
Long penis, Enlarged kidney, Large hands, Increased circulating renin level, Hypercalciuria, Hypo... ORPHA:508
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Insulinoma
Palpitations, Increased body weight ORPHA:97279
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Cartilage-Hair Hypoplasia
Hypocalcemia, Failure to thrive, Cardiomyopathy, Heart block ORPHA:175
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hypogonadism, Hyperphosphatemia, Obesity ORPHA:280651
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased fertility, Hypoplasia of the ovary, ... ORPHA:2235
Dysbetalipoproteinemia
Hypercholesterolemia, Angina pectoris, Hypertriglyceridemia, Decreased HDL cholesterol concentrat... ORPHA:412
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Hypocalcemia, Heart murmur, Hyperbilirubinemia ORPHA:163979
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Elevated creatine kinase after exercise, Myoglobinuria, Hyperkalemia, Hyperp... ORPHA:423
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:786
Sotos Syndrome
Decreased fertility, Hypercalcemia, Tall stature ORPHA:821
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Acute kidney injury, Glycosuria, Increased circ... ORPHA:466677
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Increased circulating renin level, Renal salt wasting, Penoscrotal hypospadias, Hyp... ORPHA:90791
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Large for gestational age OMIM:616026
22Q11.2 Deletion Syndrome
Hypocalcemia, Gastrointestinal hemorrhage, Hypertensive crisis, Corneal neovascularization, Failu... ORPHA:567
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity ORPHA:209902
Mody
Overweight, Elevated hemoglobin A1c, Abnormal C-peptide level, Large for gestational age, Obesity ORPHA:552
Familial Glucocorticoid Deficiency
Hypernatriuria, Hyponatremia, Renal salt wasting, Hyperkalemia ORPHA:361
Nelson Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:199244
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Increased body weight, Failure to thrive, Abdominal obesity, Hyp... ORPHA:398069
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Increased body weight, Internal hemorrhage ORPHA:244242
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Cushing Syndrome Due To Ectopic Acth Secretion
Hypokalemia, Nephrolithiasis ORPHA:99889
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Abnormality of body weight, Abnormal circulating lipid concentration, Weight... ORPHA:2298
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Pulmonary arterial hypertension ORPHA:667
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Hypernatriuria, Hyponatremia, Abnormal urine pota... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Hypernatriuria, Hyponatremia, Abnormal urine pota... ORPHA:289548
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Digeorge Syndrome
Hypocalcemia, Obesity OMIM:188400
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypernatriuria, Hyponatremia, Abnormal urine potassium concentration, Renal... ORPHA:275761
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration, Small for gestational age, Failure to thr... OMIM:243800
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Renovascular hypertension, Bladder diverticulum, Cystocele, Hypokalem... ORPHA:286
Charge Syndrome
Hypogonadotropic hypogonadism, Hypocalcemia, Pulmonic stenosis OMIM:214800

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.

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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

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