Gene Summary

Name:
protein kinase, AMP-activated, alpha 2 catalytic subunit
Synonyms:
2310008I11Rik,  AMPKalpha2

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 fructosamine level Prkaa2tm1b(EUCOMM)Hmgu HOM Early adult 9.12×10-07
decreased circulating alkaline phosphatase level Prkaa2tm1b(EUCOMM)Hmgu HOM   Early adult 8.72×10-05
increased circulating alanine transaminase level Prkaa2tm1b(EUCOMM)Hmgu HOM Early adult 2.41×10-23
enlarged spleen Prkaa2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased circulating serum albumin level Prkaa2tm1b(EUCOMM)Hmgu HOM Early adult 2.62×10-06
increased circulating creatine kinase level Prkaa2tm1b(EUCOMM)Hmgu HOM Early adult 7.30×10-05
decreased fasting circulating glucose level Prkaa2tm1b(EUCOMM)Hmgu HOM Early adult 1.09×10-07
increased circulating aspartate transaminase level Prkaa2tm1b(EUCOMM)Hmgu HOM Early adult 1.25×10-41

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
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 50% (1 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 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 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

15 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Prkaa2 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 Prkaa2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acid-Labile Subunit Deficiency
Insulin insensitivity, Reduced insulin like growth factor binding protein acid labile subunit con... OMIM:615961
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
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
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Macroglossia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Abnor... ORPHA:99886
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Flexion contracture, Hyperglycemia, Reduced C-peptide level OMIM:618856
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Abnormal autonomic nervous system physiology, Postural hyp... ORPHA:369873
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Decreased ci... ORPHA:171706
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus OMIM:222100
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Hypoglycemia, Hypogonadism, Insulin resistance, D... ORPHA:181393
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance OMIM:617885
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... ORPHA:79084
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Decreased HDL cholesterol concentration, ... OMIM:604367
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Hypoalbuminemia, Ascites,... OMIM:617156
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, ... OMIM:606762
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia OMIM:618970
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Long pen... OMIM:262190
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant dia... ORPHA:79085
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria, Insulin resistance, Hepatic steatosis, Myopathy ORPHA:79087
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin r... OMIM:613877
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Diabetes mell... OMIM:612526
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, Elevated circulatin... OMIM:615980
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314811
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia OMIM:618857
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... ORPHA:71212
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Cranial Nerves, Recurrent Paresis Of
Facial palsy, Diabetes mellitus OMIM:218200
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Maturity-onset diabetes of the you... ORPHA:324575
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Wolfram Syndrome, Mitochondrial Form
Abnormal autonomic nervous system physiology, Hydroureter, Optic atrophy, Hydronephrosis, Diabete... OMIM:598500
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Asymptomatic hy... ORPHA:35878
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Hypertriglyceridemia, Contractures of the large joints, In... ORPHA:2457
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limb... ORPHA:435660
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia, Renal tubular dysfunction OMIM:606528
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... ORPHA:66628
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... OMIM:615954
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... ORPHA:179494
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Abnormal muscle fiber morphology, Episodic hypokalemia, Adrenocortica... ORPHA:681
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Proximal ... ORPHA:453533
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:144600
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia, Myopathy ORPHA:366
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Pancreatitis, Skeletal muscle hypertrophy, Calf muscle hypertrophy,... ORPHA:435651
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypophosphatemia, Hepatomegaly, Renal tubular acidosis, Increased hep... ORPHA:2088
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia OMIM:246700
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... OMIM:615238
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Calf muscle hypertrophy, Insulin-resistant diabetes mellitus at puberty, Abnorm... ORPHA:280356
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Renal steatosis, Hepatic steatosis, Impaired gluconeogenesis OMIM:261650
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosi... OMIM:308240
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Hypoalb... ORPHA:507
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis OMIM:618805
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Splenomegaly, ... OMIM:251880
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea... ORPHA:363400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Cholestasis, Long penis, Pancre... OMIM:246200
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... ORPHA:64743
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, Maternal diabet... ORPHA:79083
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Elevated circulating C-r... ORPHA:158061
Mpi-Cdg
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hypoalbuminemia, Portal hypertension ORPHA:79319
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Macroglossia, Skeletal muscle hype... ORPHA:528
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Calf muscle ... ORPHA:79086
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Hypogonadism, Insulin resistance, Hepati... OMIM:615381
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis OMIM:619013
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Skeletal muscle hypertrophy, Decreased... OMIM:151660
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... OMIM:267700
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Optic disc pallor, Lower limb muscle weakness, Hyperglycemia OMIM:619737
Wolfram-Like Syndrome
Glucose intolerance, Abnormality of the upper urinary tract, Optic atrophy, Hypothyroidism, Male ... ORPHA:411590
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Hyperlipidemia, Splenomegaly, Skeletal muscle hypertroph... ORPHA:90970
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Orthostatic Intolerance
Elevated urinary norepinephrine, Orthostatic tachycardia OMIM:604715
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Insulin-resistant dia... OMIM:608612
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Testicular atrophy, Cholangiocarcinoma, Decreased s... ORPHA:465508
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Glomerulopathy, Abnormalit... ORPHA:2348
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus, Hyperglycemia OMIM:609069
Alg6-Cdg
Decreased LDL cholesterol concentration, Jaundice, Hypoalbuminemia, Abnormality of the liver ORPHA:79320
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Orthostatic hypotensi... ORPHA:230
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Hypospadias, Camptodactyly of to... OMIM:175700
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypophosphatemic rickets, Hypoinsulinemia, Abnormality of the peritoneum, ... ORPHA:2126
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatic fibrosis, Hypoalbuminemia, Lympha... OMIM:602579
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ... OMIM:271500
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... OMIM:617253
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus OMIM:616033
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Bardet-Biedl Syndrome 9
Renal insufficiency, Hyperglycemia OMIM:615986
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:615234
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Typ... OMIM:616860
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Pure Autonomic Failure
Dysuria, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Abnormality of ci... ORPHA:441
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Hemophagocytosis, Sp... OMIM:603553
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated c... ORPHA:26793
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Orthostatic Hypotension 2
Hypoglycemia, Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Impai... OMIM:606069
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... OMIM:616828
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Abnormal... ORPHA:263455
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Mitchell-Riley Syndrome
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent... OMIM:615710
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... ORPHA:2070
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Nephrolithiasis, Aminoaciduria, Aspartic aciduria OMIM:222730
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr... OMIM:613313
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Lower-limb joint contracture, Abnormality of the upper urin... ORPHA:99885
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Hyperlipidemia, Flexion contracture, Impaired glucose tolerance, ... OMIM:248370
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Hyperglycinuria, Increased circulating free fatty ac... ORPHA:941
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Abnormal circulating leucine concentration, Organic aciduria, Hyperammonemia ORPHA:6
Short Syndrome
Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:269880
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Jaund... OMIM:620010
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cholestasis, Thrombocytopenia, Elevated circulating creatinine concentration, Hypoa... OMIM:608104
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Cholestatic liver disease, Hepatomegaly, Hemophagoc... ORPHA:540
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Galactokinase Deficiency
Increased level of galactitol in urine, Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogon... ORPHA:79237
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Lymphocytosis, Hyperammonemi... ORPHA:1667
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Hypokalemia, ... ORPHA:769
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary urgency, Abnormal autonomic nervous system physiology, Urinary incontinence OMIM:156310
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Riboflavin Transporter Deficiency
Abnormal autonomic nervous system physiology, Optic disc pallor, Abnormal cranial nerve morpholog... ORPHA:97229
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Diastasis recti, Cholestatic liver disease, Flexion contracture, Stea... ORPHA:440713
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circulating cer... OMIM:242150
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... ORPHA:247585
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hyperammonemia ORPHA:664
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Hypoalbuminemia, Portal hypertension, Ascites ORPHA:367
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... ORPHA:88618
Placental Insufficiency
Insulin resistance ORPHA:439167
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Ascites OMIM:226300
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypothyroidism, Hypercholesterolemia, Hypopituitarism, Hyperglycemia ORPHA:90065
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Organic aciduria, Hyperammonemia ORPHA:35
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Neonatal hyperbilirubinemia, Hypogonadism, Insulin resistance ORPHA:73272
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypoplasia of the p... ORPHA:65288
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Optic atrophy, Hypogonadism ORPHA:791
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Eleva... ORPHA:79230
Riboflavin Deficiency
Hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration OMIM:615026
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... ORPHA:567548
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Peritoneal effusion, Lymphopenia, Hypoproteinemia, Abnormal lymphat... ORPHA:90362
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:94086
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypoalbuminemia ORPHA:656
Parkinsonism-Dystonia 2, Infantile-Onset
Hypomimic face, Elevated urinary homovanillic acid, Hyperhidrosis, Abnormal autonomic nervous sys... OMIM:618049
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Decreased HDL cholesterol ... ORPHA:280365
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Necrotizing Enterocolitis
Hyponatremia, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Skeletal muscle hypertrophy, M... OMIM:613327
Ménétrier Disease
Hypochromic microcytic anemia, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Cholestasis, Abnormal macrophage morphology, Hepatitis,... ORPHA:292
Mitchell Syndrome
Limb muscle weakness, Abnormal autonomic nervous system physiology OMIM:618960
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... OMIM:252320
Caribbean Parkinsonism
Autonomic bladder dysfunction, Orthostatic hypotension, EMG: myopathic abnormalities, Abnormal au... ORPHA:97355
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyperkalemia, Renal sa... OMIM:614736
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Flexion contracture, Camptodactyly, Elbow flexion contracture, Art... OMIM:214150
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Hypomagnesemia, Graves disease, Abnormal muscle fiber morphology, Hyp... ORPHA:79102
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Reduced serum alpha-1-antitrypsin, Splenomegaly OMIM:613490
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Splenomegaly OMIM:230350
Wolfram Syndrome
Dysuria, Abnormal autonomic nervous system physiology, Myopathy, Recurrent urinary tract infectio... ORPHA:3463
Chronic Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili... ORPHA:529799
Acth Deficiency, Isolated
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... OMIM:201400
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly OMIM:612126
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Hypoglycemia, Adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Beta-Ketothiolase Deficiency
Ketonuria, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperuricemia, Hyperglycemia ORPHA:134
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Hyperhidrosis, Abnormal autonomic nervous system physiology OMIM:615548
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypoalbu... OMIM:619055
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Growth Factors, Combined Defect Of
Insulin-resistant diabetes mellitus, Flexion contracture OMIM:233805
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology, Distal a... ORPHA:139578
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis, Enlarged kidney, Hypoal... OMIM:617303
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Increased circ... OMIM:144650
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Macroglossia OMIM:616260
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolo... OMIM:618892
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency OMIM:210740
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal ... OMIM:616278
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia ORPHA:199276
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:255249
Combined Oxidative Phosphorylation Deficiency 37
Macrovesicular hepatic steatosis, Hypoglycemia, Hypoalbuminemia, Bile duct proliferation, Hyperal... OMIM:618329
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... OMIM:214900
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Micropenis, Hypogonadism OMIM:614962
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Acute pancreatitis, Hemolytic ane... OMIM:619487
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Increased se... OMIM:602390
Variant Abeta2M Amyloidosis
Chronic kidney disease, Hepatic amyloidosis, Abnormal autonomic nervous system physiology, Abnorm... ORPHA:314652
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... OMIM:613027
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Hepatocellular carcinoma, Hepatitis, Conjuga... ORPHA:186
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... OMIM:619658
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemi... ORPHA:88673
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hepatomegaly, Low plasma citrulline, Optic atrophy, Hypoglycemia, Renal steatosis, Imp... OMIM:261680
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Hypokalemia, Insulin resistance, Incr... ORPHA:508
Gitelman Syndrome
Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteronism, Renal potassiu... ORPHA:358
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruva... ORPHA:3008
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis, Hyponatremia... ORPHA:83601
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Silver-Russell Syndrome
Precocious puberty, Decreased muscle mass, Hypospadias, Abnormality of the urinary system, Insuli... ORPHA:813
Rett Syndrome
Abnormal autonomic nervous system physiology, Hyperammonemia, Increased serum pyruvate, Increased... ORPHA:778
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis,... ORPHA:199296
Attrv30M Amyloidosis
Nephropathy, Abnormal autonomic nervous system physiology, Abnormal renal physiology ORPHA:85447
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, Hypoplasia of penis, Nephroblastoma ORPHA:2849
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Hyperlipidemia, Calcinosis, Delayed puberty ORPHA:90154
Wild Type Attr Amyloidosis
Nephrotic syndrome, Hepatomegaly, Abnormal autonomic nervous system physiology, Orthostatic hypot... ORPHA:330001
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Short Syndrome
Insulin resistance, Diabetes mellitus ORPHA:3163
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Glycosuria, Hypoglycemia, Proteinuria, Diabetes me... OMIM:616026
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly,... ORPHA:37042
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Unilateral renal agenesis, Abnormal circulating lipid concentration, Hypothyroidism, ... OMIM:616541
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Ascites OMIM:618183
Wilson Disease
Increased circulating copper concentration, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cirrh... OMIM:277900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Flexion contracture, Abnormal autonomic nervous system physiology OMIM:614498
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly OMIM:611762
Porphyria Variegata
Chronic kidney disease, Inappropriate antidiuretic hormone secretion, Abnormal autonomic nervous ... ORPHA:79473
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Anemia, Hypoalbuminemia, Leukocytosis ORPHA:67
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Aromatase Deficiency
Hyperlipidemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Insulin resistance, He... ORPHA:91
Primary Sclerosing Cholangitis
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:171
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Monosomy 13Q34
Insulin resistance, Infantile hypercalcemia, Hepatic steatosis, Fetal pyelectasis ORPHA:96168
Whipple Disease
Hepatomegaly, Splenomegaly, Myositis, Hypothyroidism, Hyponatremia, Insulin resistance ORPHA:3452
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemia, Jaundice ORPHA:75234
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Peritonitis, Elevated circulating creatine k... ORPHA:36234
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... ORPHA:293987
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin,... OMIM:608594
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Abnormal autonomic nervous system physiology, Decreased ... OMIM:231550
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Increased prop... OMIM:615559
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Abnormality of the pancreas, Hypermethioninem... OMIM:222470
Al Amyloidosis
Nephrotic syndrome, Autonomic erectile dysfunction, Hepatomegaly, Abnormal autonomic nervous syst... ORPHA:85443
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic aplas... OMIM:260370
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Splenomegaly, Ci... OMIM:235200
Tetanus
Abnormal autonomic nervous system physiology, Elevated circulating creatine kinase concentration,... ORPHA:3299
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
Fabry Disease
Abnormal autonomic nervous system physiology, Left ventricular hypertrophy, Hypohidrosis, Protein... OMIM:301500
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... OMIM:603554
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Anemia, Cirr... ORPHA:14
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance OMIM:309620
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Micropenis, Abnormal autonomic nervous system physiology, Aganglionic megaco... OMIM:613870
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Werner Syndrome
Type II diabetes mellitus, Thyroid carcinoma, Renal neoplasm, Hypogonadism, Insulin resistance, S... ORPHA:902
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Cirrhos... OMIM:269700
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... OMIM:203800
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Diabetes mellitus, Micropenis, Left ventricular hypertrophy, Abno... OMIM:209900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic ane... OMIM:235700
Atypical Werner Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Renal neoplasm, Calf muscle hypertrophy, Glycosuria,... ORPHA:79474
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Decreased muscle mass, Decreased response to growth hormone stimulation test,... ORPHA:96182
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia, Neonatal hypoglycemia... OMIM:619046
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... OMIM:185000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pleural lymphangiectasia, Hypoalbuminemia, Pericardial lymphangiectasia, Intestinal lymphangiecta... OMIM:235510
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Splenomegaly, Increas... OMIM:194380
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity, Hypohidrosis, A... OMIM:243000
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Hypocholesterolemia, Hepatic fibrosis, Hypoalbuminemia, Hepatic ste... OMIM:212065
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:613011
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys... OMIM:243180
Multiple System Atrophy
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... ORPHA:102
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia... ORPHA:1414
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... OMIM:182900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly ORPHA:85414
Xfe Progeroid Syndrome
Ascites, Hypoalbuminemia OMIM:610965
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... OMIM:616649
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone s... ORPHA:189427
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Hy... ORPHA:89842
Alg12-Cdg
B lymphocytopenia, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Recurrent hypoglycemia, Th... ORPHA:79324
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Cholelithiasis, Anemia of inadequate production, In... ORPHA:3202
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Biliary tract abnormality, Pancreatic hypoplasia, ... OMIM:137920
Scorpion Envenomation
Ketonuria, Hypokalemia, Increased circulating NT-proBNP concentration, Glycosuria, Acute pancreat... ORPHA:466677
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Multiple System Atrophy, Parkinsonian Type
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er...