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Gene: Kcnh6 MGI:2684139

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Gene Summary

Name:
potassium voltage-gated channel, subfamily H (eag-related), member 6
Synonyms:
m-erg2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating total protein level Kcnh6tm1.1(KOMP)Vlcg HOM Early adult 2.04×10-05
enlarged kidney Kcnh6tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating serum albumin level Kcnh6tm1.1(KOMP)Vlcg HOM Early adult 2.96×10-07
increased circulating calcium level Kcnh6tm1.1(KOMP)Vlcg HOM Early adult 3.58×10-06
abnormal skin morphology Kcnh6tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased body length Kcnh6tm1.1(KOMP)Vlcg HOM Early adult 2.38×10-08
abnormal kidney morphology Kcnh6tm1.1(KOMP)Vlcg HOM Early adult 0.00

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)
Cecum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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)
blood 0.0%
bone marrow 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)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node 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)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
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)
quadriceps 0.0%
sciatic nerve 0.0%
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)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

33 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

11 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Kcnh6 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 Kcnh6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus, Abnormality of the pancreas OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... ORPHA:293964
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis OMIM:211000
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... ORPHA:276575
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:276580
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, EEG with generalized epileptiform discha... ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... OMIM:616963
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... ORPHA:79084
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... ORPHA:276556
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:615573
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hyperlipidemia, Stage 5 chronic kidney di... OMIM:600995
Mahvash Disease
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... OMIM:619290
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... OMIM:262700
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314811
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Nephrotic Syndrome, Type 22
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... OMIM:619155
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Stage 5 chronic kidney dis... ORPHA:54370
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71526
Adamantinoma
Hypercalcemia ORPHA:55881
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Small Cell Carcinoma Of The Bladder
Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria ORPHA:284400
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hepatic ste... ORPHA:280356
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalcemia, Hypercalciuria, Nephrocalcinosis OMIM:239199
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty OMIM:616033
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease, Hypoalbuminem... OMIM:603278
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency OMIM:240150
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... ORPHA:84090
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... ORPHA:99879
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... ORPHA:29073
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular... OMIM:256300
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary re... OMIM:145001
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, ... OMIM:604367
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Renal hypoplasia/aplasia, Renal insufficiency, Hepatomegaly ORPHA:2123
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... OMIM:232700
Blue Diaper Syndrome
Hypercalcemia, Blue urine, Hyperphosphatemia, Nephrocalcinosis ORPHA:94086
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:618349
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... OMIM:615244
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, Hyperinsulinemia ORPHA:2849
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Neonatal Hemochromatosis
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... ORPHA:446
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Micropenis, Hypercalciuria OMIM:614732
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... OMIM:601198
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Hypercholesterolemia, Hepatosplenomegaly, Prematur... ORPHA:79237
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Precocious puberty, Pancreatic islet-cell ... OMIM:246200
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria OMIM:143880
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Retinitis Pigmentosa
Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Hypercalciuria OMIM:145980
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Hypsarrhythmia, Type I diabetes mellitus OMIM:618856
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Cryptorchidism, De... ORPHA:3085
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Gaisböck Syndrome
Hyperproteinemia, Nephrocalcinosis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, In... ORPHA:90041
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia, Hyperinsuli... ORPHA:363400
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:145981
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Hematuria, Nephrolithiasis, Renal insufficiency ORPHA:35710
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Acute kid... ORPHA:284426
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... OMIM:262600
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... ORPHA:2298
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hypoglycemia, Hep... OMIM:231100
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hyperproteinemia, Splenomegaly, Increased circulating ferritin concentration, Hyper... ORPHA:158048
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Hematuria ORPHA:69077
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Nephrolithiasis, Parathorm... OMIM:600740
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Reduc... ORPHA:2126
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hypoalbuminemia OMIM:602579
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Acute pancreatitis, Hypertrigly... OMIM:608600
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Polycystic ovaries, Cirrhosis, H... ORPHA:528
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia ORPHA:2239
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia, P... ORPHA:79319
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... ORPHA:567548
Uremic Pruritus
Hypercalcemia, Chronic kidney disease, Stage 5 chronic kidney disease, Increased blood urea nitro... ORPHA:94059
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... ORPHA:85445
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis OMIM:617872
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619386
Wolfram-Like Syndrome
Glucose intolerance, Male hypogonadism, Diabetes mellitus, Hypothyroidism, Central diabetes insip... ORPHA:411590
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Di... ORPHA:181393
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Interictal epileptiform activity, Type I diabetes mellitus, Glycosuria OMIM:618857
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... ORPHA:656
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... OMIM:606069
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abnormal circulating a... ORPHA:71212
Oculocerebrodental Syndrome
Hypercalcemia, Nephrocalcinosis, Hypocalcemia ORPHA:557003
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia OMIM:601165
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer... ORPHA:251004
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Nephrolithiasis, Parathormone-independent ... ORPHA:405
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Endocardial Fibroelastosis
Cryptorchidism, Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Pyelonephrit... ORPHA:730
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Hypercholester... OMIM:606721
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Elevated urinary norepinephrine, Elevated... ORPHA:94080
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Cirrhosis, Cholestasis, Hypoalbuminemia, Jaundice OMIM:617156
Hypophosphatasia, Infantile
Hypercalcemia, Elevated urine pyrophosphate, Nephrocalcinosis, Elevated plasma pyrophosphate, Pho... OMIM:241500
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyper... OMIM:151660
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hyperphosphaturia, Calcinosis, Hepatomegaly, Aminoaciduria, Hypophosphatemia, Sple... OMIM:239200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... OMIM:267700
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria, Hypocalcemia ORPHA:163693
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Proteinuria, Elevated urinary norepinephrine OMIM:171420
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Cryptorchidism, Precocious p... OMIM:614736
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
X-Linked Sideroblastic Anemia
Glucose intolerance, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia OMIM:246700
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Hypocalcemia ORPHA:172
Oculoskeletodental Syndrome
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Hepatomegaly, Splenomegaly, Hypocalcemia, H... OMIM:618440
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia, Increased serum pyruvate OMIM:614741
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypoc... OMIM:612526
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Hypoalbuminemia OMIM:618347
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... OMIM:203800
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Acth Deficiency, Isolated
Fasting hypoglycemia, Jaundice, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Nephrocalcinosis, Hypocalcemia OMIM:179800
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Elevated urinary delta-aminolevulinic acid, Nephrocalcinosi... OMIM:276700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... OMIM:263200
Hypophosphatasia
Hypercalcemia ORPHA:436
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Increased serum pyruvate, Hyperalaninemia OMIM:266150
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly, Hypocalcemia OMIM:619658
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Decreased plasma free carnitine, Hydronephrosis, Elevated cir... OMIM:608836
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Pyridoxine-Dependent Epilepsy
Hypoglycemia, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG with generalized ... ORPHA:3006
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Hypercalciuria OMIM:156400
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Hyperchol... ORPHA:247585
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... OMIM:617575
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... OMIM:232400
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney ORPHA:2591
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, EE... OMIM:261680
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Hyperhidrosis ORPHA:231147
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... ORPHA:369
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Hypocalcemia ORPHA:100025
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... OMIM:617303
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Hyperalaninemia, Hepatic steatosis OMIM:619048
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Renal salt wasting, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokalemi... OMIM:601678
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... ORPHA:139507
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia ORPHA:79327
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Mandibuloacral Dysplasia
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... ORPHA:2457
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Hyperammonemia, Recurrent hypogly... OMIM:212140
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated urinary no... ORPHA:276621
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Hyperins... OMIM:608612
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... ORPHA:769
Thymic Neuroendocrine Tumor
Hypercalcemia, Calcium nephrolithiasis ORPHA:97289
Maple Syrup Urine Disease
Elevated plasma branched chain amino acids, Elevated circulating L-alloisoleucine concentration, ... OMIM:248600
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Elevated circulating C-react... ORPHA:676
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Increased total bilirubin, Splenomegaly, Increased c... OMIM:603553
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Hypoalbuminemia OMIM:226300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Omenn Syndrome
Hypoproteinemia, Hepatomegaly, Splenomegaly OMIM:603554
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration... OMIM:232200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:202200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hydronephrosis, Hepatomegaly, Splenomegaly, Micropenis, Hypocalcemia OMIM:235255
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis,... OMIM:609049
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:615415
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose ... OMIM:248370
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Hyperbilirubinemia, Absen... OMIM:615710
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal cyst, Nephrolithiasis, Renal hamartoma, ... ORPHA:99880
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... ORPHA:99845
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Splenomegal... OMIM:613327
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Hypoglycemia, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, ... ORPHA:95619
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246900
Congenital Isolated Acth Deficiency
Hyponatremia, Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient... ORPHA:199296
Leptospirosis
Hyperproteinemia, Acute kidney injury, Hepatomegaly, Cellular urinary casts ORPHA:509
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration... OMIM:232220
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Parathyroid Carcinoma
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal cyst, Nephrolithiasis, Renal hamartoma, ... ORPHA:143
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hydronephrosis, Hepatomegaly, Splenomegaly, Micropenis, Hepatosplenomegaly, Abno... ORPHA:1655
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Cryptorchidism, Adrenocortical hypoplasia OMIM:307030
Pheochromocytoma
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine OMIM:171300
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid concentration, E... OMIM:615160
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hyperphosphatemia ORPHA:36913
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Renal dysplasia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemi... OMIM:618183
Dengue Fever
Hypoproteinemia, Hepatomegaly ORPHA:99828
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hypoalbuminemia OMIM:618805
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Hypercalcemia, Hypoglycemia, Adenoma sebaceum, Increased circulating cort... OMIM:131100
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Splenomegaly, C... OMIM:608594
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circulating... ORPHA:79096
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... ORPHA:230
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Glomerular sclerosi... ORPHA:29072
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopla... ORPHA:95496
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Splenomegaly, C... OMIM:269700
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Decreased urinary potassium, Hyperuricemia, Renal salt... ORPHA:95409
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus OMIM:609069
Johanson-Blizzard Syndrome
Hypospadias, Hypoproteinemia, Hydronephrosis, Hypoplasia of penis ORPHA:2315
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Hyperammonemia, Elevated plasma branched chain am... ORPHA:2394
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Insulin-resistant diabetes mellitus, Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic b... OMIM:226980
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria, Hypocalcemia OMIM:606407
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentration, Hyperc... ORPHA:64753
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Neonatal insulin-dependent diabetes mellitus, R... ORPHA:99885
Woodhouse-Sakati Syndrome
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hyp... ORPHA:3464
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia, Fatigable weakness of respiratory muscles ORPHA:681
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Tubulointerstitial nephritis, Urinary bladder inflammation,... ORPHA:449395
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Nephrocalcinosis, Abnormality of the urinary system, Congenital megaureter, Renal ... ORPHA:369837
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Immunodeficiency 27A
Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia OMIM:209950
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Renal Fanconi syndrome, Hypokalemia, Proximal tu... ORPHA:411634
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Increased serum iron, Hepatocellular carcinoma, Glucose intoler... OMIM:235200
Timothy Syndrome
Hypoglycemia, Hypocalcemia, Hypothyroidism, Patent ductus arteriosus OMIM:601005
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Hypoalbuminemia OMIM:608104
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hepatomegaly, Hypoglycemia, Glycosuria, Diabetes mellitus OMIM:616026
Mastocytosis
Hypercalcemia, Hepatomegaly, Splenomegaly ORPHA:98292
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Fatigable weaknes... ORPHA:42
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... ORPHA:465508
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Hypocalcemia ORPHA:1438
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Mic... OMIM:251880
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Enla... ORPHA:508
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance OMIM:309620
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... OMIM:167800
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia, EEG abnormality, Decreased plasma carn... OMIM:246450
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Infantile Liver Failure Syndrome 2
Hyperammonemia, Hypoglycemia, Jaundice OMIM:616483
Leishmaniasis
Hepatomegaly, Splenomegaly, Hypoalbuminemia ORPHA:507
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Nephrotic syndrome, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, H... ORPHA:505248
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid dro... OMIM:220111
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Transient hyperlipidemia ORPHA:156
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, H... ORPHA:158061
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cortisol level OMIM:600955
Dahlberg-Borer-Newcomer Syndrome
Renal insufficiency, Nephropathy, Hypocalcemia ORPHA:1563
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Urinary incontinence ORPHA:476126
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration... ORPHA:94089
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Decreased plasma carnitine, Hypoglycemia, Hepatic steatosis OMIM:201450
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Prader-Willi Syndrome
Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Hyperinsulinemia... OMIM:176270
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Macrovesicular hepatic steatosis, C... OMIM:256810
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperammonemia OMIM:618120
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria, Hypocalcemia, Renal insuff... ORPHA:31824
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyp... ORPHA:567546
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal dysplasia, Polycystic kidney dysplasia, Ureteral atresia, Renal insufficiency... OMIM:208540
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Monosomy 13Q34
Fetal pyelectasis, Infantile hypercalcemia ORPHA:96168
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Chronic kidney d... ORPHA:1667
H Syndrome
Micropenis, Hepatosplenomegaly, Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney ORPHA:168569
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Endocrine-Cerebroosteodysplasia
Hypospadias, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney OMIM:612651
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Hyperammonemia, Cirrhosis, Conjugated hyperbilirubinemia, Elevated alpha-fetoprotei... OMIM:617049
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hepatomegaly, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Hypophosphatemic Rickets
Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemia, Hypocalciuria, Renal phosph... ORPHA:437
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypomag... ORPHA:73224
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Glomerular sclerosis, Stage 5 chronic kidney disease, Recurrent urinary tract infec... OMIM:619487
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Decreased urinary potassium, Hyperuricemia, Renal salt... ORPHA:85138
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyponatremia, Hyperkalemia, Hypoglycemia, Hyperactive renin-... ORPHA:90790
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Hypocalcemic seizures, Renal dysplasia, Hypocalcemia, Polycystic kidney dysplasia... ORPHA:2237
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Cholestatic liver disease ORPHA:5
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Absence of renal corticomedullary differentiation... OMIM:259720
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hyperlipidemia, Nephrocalcinosis, Tubulointerstitial fibrosis, Nephrolithiasis, Sta... ORPHA:79259
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Hypoglycemia, Decrease... OMIM:615577
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Nephrolithiasis, Hypocalcemia ORPHA:93160
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Pancreatitis, Hyperglycinemia, Hyperammonemia OMIM:606054
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormal renal physiology, Splenomegaly, Increased circulating ferritin concentrati... ORPHA:540
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infections, P... ORPHA:731
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Elevated uri... ORPHA:653
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Nephrotic syndrome, Hypocholesterolemia, Proximal tubulopathy, Renal cyst, Hypoalbu... OMIM:212065
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acute kidney i... ORPHA:173
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, El... OMIM:174000
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, E... ORPHA:26791
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, N... OMIM:212138
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly