Gene Summary

Name:
Ras and Rab interactor 3
Synonyms:
N/A

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 iron level Rin3tm1.1(KOMP)Vlcg HOM Early adult 1.41×10-05
decreased circulating calcium level Rin3tm1.1(KOMP)Vlcg HOM   Early adult 5.03×10-05
decreased circulating glucose level Rin3tm1.1(KOMP)Vlcg HOM Early adult 1.41×10-05
increased fasting circulating glucose level Rin3tm1.1(KOMP)Vlcg HOM Early adult 2.55×10-06
decreased urine magnesium level Rin3tm1.1(KOMP)Vlcg HOM Early adult 3.75×10-07
decreased circulating chloride level Rin3tm1.1(KOMP)Vlcg HOM Early adult 5.89×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone  Section images heterozygote 50% (1 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Section

45 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Sleep Wake

Wake state (bmp file)

9 Images

Eye Morphology

Images Ophthalmoscopy

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

Human diseases caused by Rin3 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 Rin3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Parathormone-independent increased renal t... ORPHA:405
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal potassium wasting, Renal magnesium ... ORPHA:564178
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... OMIM:613090
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypocalcemia ORPHA:163693
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia ORPHA:2239
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... OMIM:602522
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Hyp... OMIM:248190
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... OMIM:616963
Riboflavin Deficiency
Hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration OMIM:615026
Hypomagnesemia 3, Renal
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... OMIM:248250
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... OMIM:601198
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia OMIM:603233
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis OMIM:211000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Blue Diaper Syndrome
Hypercalcemia, Nephrocalcinosis, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hype... ORPHA:94086
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypermagnesiuria, Hypomagnesemia ORPHA:34527
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prosta... OMIM:601678
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:614736
East Syndrome
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Abnormal urinary electroly... ORPHA:199343
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Small Cell Carcinoma Of The Bladder
Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria ORPHA:284400
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration, Abnormal localization of kidn... ORPHA:446
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease,... ORPHA:89938
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Aciduria OMIM:617950
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Adamantinoma
Hypercalcemia ORPHA:55881
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Cystinuria, Hypocalcemia, Nephrolithiasis OMIM:606407
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypomag... ORPHA:73224
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Nephrocalcinosis OMIM:239199
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prostaglandin E2, Hyp... OMIM:241200
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Aminoaciduria, Increased seru... OMIM:603358
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Proximal tu... ORPHA:411634
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... ORPHA:99879
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate c... ORPHA:35878
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Hypocalcemia, Nephrocalcinosis OMIM:179800
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Organic aciduria, Hyperammonemia ORPHA:6
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... OMIM:613388
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Proximal tubulopathy, Decreased ... ORPHA:18
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... ORPHA:99845
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, Hypercalciuria, Hyperphosphatemia ORPHA:428
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Hypercalciuria OMIM:145980
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency OMIM:240150
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting, Hypercalciuria OMIM:612286
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria OMIM:222730
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Type 1 Diabetes Mellitus
Hyperglycemia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Hypoglycemia, Nephrocalcinosis, Glycosuria, Diabetes mellitus, A... OMIM:616026
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hyperphosphatemia ORPHA:36913
Propionic Acidemia
Hypoglycemia, Organic aciduria, Hyperammonemia ORPHA:35
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
X-Linked Sideroblastic Anemia
Glucose intolerance, Abnormality of iron homeostasis ORPHA:75563
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acy... ORPHA:79159
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis OMIM:612287
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Micropenis, Hypercalciuria OMIM:614732
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis, Renal steatosis OMIM:261650
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hyperammonemia ORPHA:664
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostas... OMIM:231100
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:145981
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Hyperinsulinemia OMIM:606528
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypoglycemia, Hypokalemia, ... ORPHA:173
Gitelman Syndrome
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal potassium wasting, Enuresis, Increased circulat... OMIM:263800
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration... ORPHA:94089
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... OMIM:613845
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... OMIM:606176
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Bicarbonate-wasting ... ORPHA:3337
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Elevated urinary epinephrine, Long penis, Hypochloremia, Urogenital s... ORPHA:90794
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Hypocalcemia ORPHA:1438
Dahlberg-Borer-Newcomer Syndrome
Renal insufficiency, Nephropathy, Hypocalcemia ORPHA:1563
Oculoskeletodental Syndrome
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Hypocalcemia, Hypercalciuria OMIM:618440
Oncogenic Osteomalacia
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Hypocalcemia ORPHA:352540
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the... ORPHA:324575
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria OMIM:143880
Visceral Steatosis, Congenital
Hypoglycemia, Renal steatosis, Hypocalcemia OMIM:228100
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia, Nephrocalcinosis ORPHA:557003
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria, Hypocalcemia, Renal insuff... ORPHA:31824
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary re... OMIM:145001
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting, Hypoglycemia OMIM:201910
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hypercalcemia, Renal insufficiency ORPHA:2123
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Ketonuria ORPHA:2089
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Hypocalcemic seizures, Renal dysplasia, Hypocalcemia, Unilateral renal agenesis, ... ORPHA:2237
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus OMIM:618856
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:610600
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... OMIM:600740
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:203400
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Fasting hypoglycemia, Nephrocalcinosis, Renal tubul... ORPHA:2088
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia, Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Bartter Syndrome, Type 3
Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypocalciuria, Renal potassium wast... OMIM:607364
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemi... OMIM:618183
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Abnormality of the urinary system, Diabetic ketoacidosis, Hyperglycemia, Matur... ORPHA:99886
Hemochromatosis, Type 4
Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, Increased circu... OMIM:606069
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Hypercholesterolemia, Diabetes melli... ORPHA:181393
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Hematuria, Nephrolithiasis, Renal insufficiency ORPHA:35710
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hypoglycemia, Organic aciduria OMIM:614741
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Hypoglycemia, Lacticaciduria, Elevated circulating creatine kinase concentration... OMIM:619386
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Maternal diabetes, Tubulointerstitial... ORPHA:358
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... OMIM:300009
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hypoglycemia, Proximal renal tubular acidosis, Hyperalaninemia OMIM:266150
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Nephrolithiasis, Hypocalcemia ORPHA:93160
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, 3-Methylglutaconic aciduria, Hypoglycemia, Hy... OMIM:618120
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid concentration, E... OMIM:615160
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Rhabdoid Tumor
Renal neoplasm, Hematuria, Hypercalcemia ORPHA:69077
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Hypophosphatemia, Hypercalciuria, Po... OMIM:239200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, In... ORPHA:26793
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Acute kid... ORPHA:284426
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Proteinuria, Elevated urinary norepinephrine OMIM:171420
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis OMIM:602722
Idiopathic Copper-Associated Cirrhosis
Increased urinary copper concentration, Increased circulating copper concentration ORPHA:209919
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... OMIM:227810
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Micropenis, Hypocalcemia OMIM:607143
Uremic Pruritus
Hypercalcemia, Stage 5 chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphate... ORPHA:94059
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Elevated urinary norepinephrine, Elevated... ORPHA:94080
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia, Methylmalonic aciduria, Dicarboxylic... ORPHA:289504
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Myoglobinuria, Hypernatremia, Elevated circulating creatine kinase co... ORPHA:94093
Mody
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... ORPHA:552
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypocalcemia ORPHA:746
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal potas... OMIM:612780
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Renal salt wasting, Hyponatremia, Hyperkalemia OMIM:264350
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Osteopetrosis, Autosomal Recessive 5
Absence of renal corticomedullary differentiation, Hyperbilirubinemia, Hypocalcemia OMIM:259720
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Hypophosphatasia, Infantile
Hypercalcemia, Elevated urine pyrophosphate, Nephrocalcinosis, Elevated plasma pyrophosphate, Pho... OMIM:241500
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Gracile Bone Dysplasia
Micropenis, Hypocalcemia OMIM:602361
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Long penis, Insulin-resistant diabetes mellitus, Hyperglycemi... OMIM:262190
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Ketonuria OMIM:618857
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron, Diabetes ... OMIM:604290
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Increased urine succinate level, Decreased plasma free carnitine, Hypoglycemia, Hyperalaninemia OMIM:619048
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Renal sodium wasting ORPHA:556037
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Low plasma citrull... OMIM:261680
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Glutaric aciduria, Hyperammonemia, Increased level of hippuric acid in urine, Hyper... OMIM:246450
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephropa... ORPHA:37042
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithel... ORPHA:31826
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Micropenis, Hydronephrosis, Hypocalcemia OMIM:235255
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH ad... ORPHA:79444
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin... OMIM:300554
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Hyperalaninemia, Hypoglycemia, Ketonuria OMIM:615751
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Hypoglycemia, Hyperglutaminemia, Elevated circulating creatine kinase conc... OMIM:619355
Pseudohypoparathyroidism, Type Ia
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Renal s... ORPHA:427
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Hypercalciuria OMIM:156400
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Increased circulating beta-C-terminal telop... ORPHA:157215
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Gracile Syndrome
Increased circulating ferritin concentration, Renal Fanconi syndrome, Decreased transferrin satur... ORPHA:53693
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Decreased urine output, Anuria, Acute kidney injury, Oliguria, Nephro... ORPHA:544482
Hemochromatosis, Type 2B
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:613313
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Renal sodium wasting ORPHA:556030
Acute Adrenal Insufficiency
Hyperkalemia, Hyponatremia, Hypercalcemia, Hypoglycemia, Decreased urinary potassium, Hyperuricem... ORPHA:95409
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hypokalemia ORPHA:681
Pearson Syndrome
Hypokalemia, Lacticaciduria, Renal cyst, Hypophosphatemia, Glycosuria, Hyperalaninemia, Hypomagne... ORPHA:699
Pyruvate Dehydrogenase E3 Deficiency
Hyperisoleucinemia, Hypoglycemia, Increased urine alpha-ketoglutarate concentration, Hyperammonem... ORPHA:2394
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Ketotic hypoglycemia, Recurrent urinary tract infections, Renal salt ... ORPHA:361
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypoglycemia, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:617575
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Hypocalcemia OMIM:212750
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hydronephrosis, Micropenis, Abnormal renal morphology, Hypocalcemia ORPHA:1655
Congenital Isolated Acth Deficiency
Hyponatremia, Hypoglycemic seizures, Neonatal hypoglycemia ORPHA:199296
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated urinary no... ORPHA:276621
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer... ORPHA:251004
Cranioectodermal Dysplasia 1
Chronic kidney disease, Tubulointerstitial nephritis, Renal magnesium wasting, Hypocalcemia OMIM:218330
Hypophosphatasia
Hypercalcemia ORPHA:436
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis, Hypophosphatemic rickets OMIM:613312
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria, Hypokalemia, Decreased circulating renin level OMIM:613677
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabetes mellitus, ... OMIM:604367
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Abnormal urine sodium concentra... ORPHA:320
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH ad... ORPHA:79443
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Increased level of galactitol in urine, Hypercholesterolemia, In... ORPHA:79237
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Wilson Disease
Hyperphosphaturia, High nonceruloplasmin-bound serum copper, Renal tubular dysfunction, Aminoacid... OMIM:277900
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Elevated circulating L-alloisoleucine concentration, H... OMIM:248600
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia OMIM:618253
Pheochromocytoma
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine OMIM:171300
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... ORPHA:85450
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney ORPHA:2591
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, H... ORPHA:47159
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hypokalemia, Abnormal tubul... ORPHA:411629
Hemochromatosis, Type 3
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:604250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... ORPHA:766
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Decreased urinary potassium, Hyperuricem... ORPHA:85138
Acrodysostosis With Multiple Hormone Resistance
Hypospadias, Hyperphosphatemia, Diabetes mellitus, Hypocalcemia ORPHA:280651
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Ketonuria OMIM:210200
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Renal tubular acidosis, Transient hyperlipidemia ORPHA:156
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Abnormal circulating lipid c... ORPHA:2298
Helix Syndrome
Hypokalemia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, Renal insufficiency OMIM:617671
Osteopetrosis With Renal Tubular Acidosis
Hydronephrosis, Elevated circulating creatine kinase concentration, Renal tubular acidosis, Nephr... ORPHA:2785
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Glomerular sclerosi... ORPHA:29072
Fructose Intolerance, Hereditary
Hyperphosphaturia, Hypoglycemia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia,... OMIM:229600
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Hyperbilirubinemia, Micropenis, Hypocalcemia ORPHA:163979
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Hypophosphatemia, Renal phosphate wasting, Calcium nephrolithiasis, Hy... OMIM:241530
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Hyponatremia, Hyperkalemia, Penoscrotal hypospadias, Neonatal hypoglycemia, Renal sa... ORPHA:90791
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia OMIM:618838
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphatemia, Renal hamartoma, ... ORPHA:99880
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Acute kidney injury, Oliguria, ... ORPHA:466650
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypoglycemia, Unconjugated hyperbilirubinemia, Recurrent urinary tract infection... OMIM:613658
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia ORPHA:97289
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hypoglycemia, Hyperuricemia, Type I diabetes mellitus ORPHA:199299
Parathyroid Carcinoma
Hypercalcemia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphatemia, Renal hamartoma, ... ORPHA:143
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Cartilage-Hair Hypoplasia
Mucopolysacchariduria, Hypocalcemia ORPHA:175
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Monosomy 13Q34
Fetal pyelectasis, Infantile hypercalcemia, Insulin resistance ORPHA:96168
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Hypoglycemia, Proximal tu... OMIM:231680
Glutaric Acidemia I
Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria OMIM:231670
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Urinary retention, Recurrent hypoglycemia, Reduced C-peptide level, Hypoinsulinemia... ORPHA:2126
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia OMIM:613027
Adrenal Hypoplasia, Congenital
Renal salt wasting, Hyponatremia OMIM:300200
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231580
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia, Acute hyperammonemia, Hyperglycinuria, Organic aciduria, Ketonuria OMIM:210210
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... ORPHA:29073
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Hypoglycemia OMIM:131100
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Hyperbilirubinemia, Increased total iron binding capacity OMIM:616278
Hemochromatosis, Type 1
Increased serum iron, Increased circulating ferritin concentration, Glucose intolerance, Diabetes... OMIM:235200
Hypophosphatemic Rickets
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Hypocalciuria, Renal phosph... ORPHA:437
Symptomatic Form Of Hemochromatosis Type 1
Abnormality of iron homeostasis, Hyperglycemia, Elevated transferrin saturation, Increased circul... ORPHA:465508
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Porphyrinuria, Stage 5 chronic kidney ... ORPHA:101330
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Urinary retention, Mildly elevated creatine kinase, Decreased... ORPHA:79102
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Midshaft hypospadias,... ORPHA:168558
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Neonatal... OMIM:212138
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Hypokalemia ORPHA:251274
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Midshaft hypospadias,... ORPHA:289548
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, ... ORPHA:348
Senior-Boichis Syndrome
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... ORPHA:84081
Hennekam Syndrome
Horseshoe kidney, Ectopic kidney, Hypocalcemia ORPHA:2136
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231625
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Tyrosinemia, Type I
Renal Fanconi syndrome, Hypophosphatemic rickets, Hypoglycemia, Nephrocalcinosis, Hypertyrosinemi... OMIM:276700
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hypoglycemia, Hyperammonemia OMIM:617049
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Nephrocalcinosis, Abnormality of the urinary system, Renal dysplasia, Congenital m... ORPHA:369837
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypoglycemia, Type II diabetes mellitus, Hypokalemia, Hyperbilirubin... ORPHA:88673
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Hypocalcemia, Polycystic kidney dysplasia, Multiple renal cysts, V... ORPHA:567
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased urinary cortisol level, Hyperinsulinemic hypoglycemia, Fasting hyperinsu... ORPHA:276152
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Elevated uri... ORPHA:653
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity OMIM:613280
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Decreased glomerular filtration... OMIM:232200
Beta-Thalassemia Intermedia
Proximal tubulopathy, Abnormality of iron homeostasis, Diabetes mellitus, Elevated hepatic iron c... ORPHA:231222
African Iron Overload
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... ORPHA:139507
Aceruloplasminemia
Aceruloplasminemia, Elevated hepatic iron concentration, Decreased serum iron, Decreased circulat... ORPHA:48818
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased urinary cortisol level OMIM:615954
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... OMIM:220110
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Urinary incontinence ORPHA:476126
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Lacticaciduria, Increased level of L-gl... ORPHA:3008
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Decreased glomerular filtration... OMIM:232220
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... ORPHA:436271
Zollinger-Ellison Syndrome
Hypercalcemia, Increased urinary cortisol level, Increased glucagon level ORPHA:913
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hematuria, Decreased glomerular... OMIM:232240
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level, Long penis, Renal salt wasting, Increased urinary... ORPHA:90795
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia, Diabetes mellitus ORPHA:249
Digeorge Syndrome
Renal dysplasia, Hydronephrosis, Hypocalcemia, Unilateral renal agenesis OMIM:188400
Necrotizing Enterocolitis
Hyperglycemia, Hyponatremia, Abnormal glucose homeostasis ORPHA:391673
Mastocytosis
Hypercalcemia ORPHA:98292
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Thymic Aplasia
Recurrent urinary tract infections, Hypocalcemic tetany ORPHA:83471
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Johanson-Blizzard Syndrome
Hypospadias, Hydronephrosis, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Mi... OMIM:243800
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Increased circulating ferritin concentration, Decreased transferrin saturat... ORPHA:300298
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose ... OMIM:248370
Leprechaunism
Fasting hypoglycemia, Long penis, Nephrocalcinosis, Hypokalemia, Insulin resistance, Recurrent in... ORPHA:508
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Ketonuria ORPHA:134
Vipoma
Hypercalcemia, Diabetes mellitus, Hypokalemia ORPHA:97282
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch... ORPHA:416
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Gaisböck Syndrome
Hyperproteinemia, Nephrocalcinosis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Di... ORPHA:90041
Somatostatinoma
Hypercalcemia, Diabetes mellitus ORPHA:97283
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Abnormal urine potassium concentration, Hypertr... ORPHA:275761
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Urinary urgency, Pelvic kidney, Hypocalcemia, Hypomagnesemia, Micropenis, Unilateral renal agenesis OMIM:619503
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Horseshoe kidney, Hypophosphatemic rickets OMIM:163200
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... ORPHA:447
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Hyperphosphaturia, Renal phosphate wasting, Renal hypophosphatemi... ORPHA:289176
Mitchell-Riley Syndrome
Hyperglycemia, Hyperbilirubinemia OMIM:615710
Charge Syndrome
Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Renal agenesis, Micropenis, Hypocalcemia OMIM:214800
Glucagonoma
Hypercalcemia, Diabetes mellitus ORPHA:97280
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypoglycemia, Hypokalemia ORPHA:786
Trichohepatoenteric Syndrome 1
Hypospadias, Increased serum iron, Abnormality of iron homeostasis, Renal cortical microcysts, Hy... OMIM:222470
Mccune-Albright Syndrome
Hyperphosphaturia, Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemia ORPHA:562
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Enamel-Renal Syndrome
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... ORPHA:1031
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Hyperglycemia, Glycosuria, Abnormality of the up... ORPHA:99885
Williams-Beuren Syndrome
Renal hypoplasia, Hypercalcemia, Urethral stenosis, Nephrocalcinosis, Pelvic kidney, Glucose into... OMIM:194050
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Diabetes mellitus ORPHA:231226
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypercalciuria, Ureteral stenosis, Renal cyst, Nephrocalcinosis OMIM:615398
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hyperglycemia, Insulin-resistant diabetes mellitus, Hype... OMIM:151660
Ppoma
Hypercalcemia ORPHA:97278
Williams Syndrome
Hypercalciuria, Abnormality of the bladder, Hypercalcemia, Type II diabetes mellitus, Renovascula... ORPHA:904
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Abnormal blood inorganic cation concentration, Hype... ORPHA:309854
Beta-Thalassemia Major
Abnormality of iron homeostasis, Diabetes mellitus ORPHA:231214
Grfoma
Hypercalcemia ORPHA:97261
X-Linked Hypophosphatemia
Hypocalciuria, Renal phosphate wasting, Hypophosphatemia ORPHA:89936
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Renal Fanconi syndrome, Elevated maternal serum alpha-fetoprotein, Proximal re... OMIM:309000
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Hypercalciuria, Nephrolithiasis ORPHA:652
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Nephrocalcinosis, Hematuria, Hypophosphatemia, Nephrolithiasis, Proxim... ORPHA:534
Sotos Syndrome
Hypospadias, Hypercalcemia, Ureteral duplication, Hydronephrosis, Renal agenesis, Congenital post... ORPHA:821
Sarcoidosis
Hypercalcemia, Tubulointerstitial nephritis, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, R... ORPHA:797
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hypoglycemia, Congenital megaureter, Nephrolithiasis, Neonatal hypoglycemia... ORPHA:116
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia, Abnormality of iron homeostasis ORPHA:84064
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Renal dysplasia, Hypercalciuria, Nephrocalcinosis OMIM:300990
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypospadias, Hypercalciuria, Microscopic nephrocalcinosis OMIM:219721
Osteogenesis Imperfecta
Hypercalciuria, Nephrolithiasis ORPHA:666
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Nephrocalcinosis, Medullary nephrocalcinosis, Cortical nephrocalcinosis, Hypop... ORPHA:51608
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypocalciuria, Hypophosphaturia ORPHA:73223
Sarcoidosis, Susceptibility To, 1