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Gene: Prkaa2 MGI:1336173

Gene Summary

Name:

protein kinase, AMP-activated, alpha 2 catalytic subunit

Synonyms:

2310008I11Rik, AMPKalpha2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased fasting circulating glucose level	Prkaa2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.09×10^-07
increased circulating creatine kinase level	Prkaa2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.07×10^-05
decreased circulating serum albumin level	Prkaa2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.62×10^-06
decreased exploration in new environment	Prkaa2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.46×10^-05
decreased circulating alkaline phosphatase level	Prkaa2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.72×10^-05
enlarged spleen	Prkaa2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating alanine transaminase level	Prkaa2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.83×10^-23
increased circulating aspartate transaminase level	Prkaa2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.87×10^-42
decreased circulating fructosamine level	Prkaa2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.12×10^-07

Download data as: TSV XLS

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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	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
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	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

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 Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

15 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Auditory Brain Stem Response

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

4 Images

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Immunophenotyping

Panel B FCS file(s)

8 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

View 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.

Human diseases associated with Prkaa2 (0 diseases)
Human diseases predicted to be associated with Prkaa2 (576 diseases)

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	Matching phenotypes	Source
Acid-Labile Subunit Deficiency	Insulin insensitivity, Reduced insulin like growth factor binding protein acid labile subunit con...	OMIM:615961
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	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	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
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
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli...	ORPHA:293964
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance	OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Transient Neonatal Diabetes Mellitus	Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Essential Fructosuria	Abnormal urine carbohydrate level, Hyperglycemia	ORPHA:2056
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Diarrhea 13	Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula...	ORPHA:69076
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ...	OMIM:615703
Cortisone Reductase Deficiency 2	Insulin resistance, Premature pubarche	OMIM:614662
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat...	ORPHA:171706
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti...	OMIM:610582
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
Mody	Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Hyperglycemia	OMIM:618970
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista...	OMIM:604367
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314802
Obesity Due To Sim1 Deficiency	Glucose intolerance, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Abnorm...	ORPHA:369873
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy...	OMIM:606762
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus, Multiple renal cysts	DECIPHER:47
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem...	OMIM:262190
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:608600
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Decreased hepatic echogenicity, Hypoalbuminemia...	OMIM:613752
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria	OMIM:618857
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Insulin resistance, Myopathy, Microscopic hematuria, Hepatic steatosis	ORPHA:79087
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin ...	ORPHA:79085
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Skeletal muscle hy...	OMIM:613877
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Diabetes mellitus, Elevated circulating creatine kinase concentration, L...	OMIM:615980
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Reduced circulating gr...	OMIM:262400
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr...	ORPHA:71212
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi...	ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Cranial Nerves, Recurrent Paresis Of	Diabetes mellitus, Facial palsy	OMIM:218200
Wolfram Syndrome, Mitochondrial Form	Diabetes mellitus, Hydroureter, Optic atrophy, Abnormal autonomic nervous system physiology, Diab...	OMIM:598500
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin-resistant diabetes mel...	ORPHA:2457
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia	OMIM:606528
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Proximal amyotrophy, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal diabetes, Reac...	ORPHA:324575
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Elevated circulating...	ORPHA:435660
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia	ORPHA:2089
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulat...	ORPHA:276575
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Wolfram-Like Syndrome	Diabetes mellitus, Abnormality of the upper urinary tract, Optic atrophy, Glucose intolerance, Pr...	ORPHA:411590
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te...	OMIM:262700
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem...	ORPHA:2298
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,...	ORPHA:276580
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly, Dementia	ORPHA:2274
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pan...	ORPHA:79644
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Ascites, Hypoalbuminemia, Anemia	OMIM:603278
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating gr...	ORPHA:90301
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic...	OMIM:615238
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolera...	ORPHA:2088
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis...	ORPHA:280356
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-...	ORPHA:435651
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Abnormal muscle fiber morphology, Adrenocortical adenoma, Increased intramy...	ORPHA:681
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:616050
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl...	ORPHA:436182
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Renal steatosis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch...	OMIM:615812
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin...	ORPHA:276608
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased...	OMIM:232700
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Dementia, Hypoalbuminemia, Cognitive impairme...	OMIM:208920
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph...	ORPHA:507
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis, Pancreatitis	OMIM:618805
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Myopathy, Cirrhosis, He...	ORPHA:363400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Decreased cir...	ORPHA:276556
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Ataxia-Oculomotor Apraxia 4	Cognitive impairment, Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprote...	OMIM:616267
Donohue Syndrome	Skeletal muscle atrophy, Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Pancreati...	OMIM:246200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio...	OMIM:618528
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Hypertriglyceridemia, Maternal di...	ORPHA:79083
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin res...	ORPHA:528
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea...	ORPHA:247585
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertroph...	ORPHA:79086
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Hyperinsulinemic hypoglycemia	ORPHA:79319
Mahvash Disease	Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel...	OMIM:619290
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis	OMIM:619013
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Hyperglycemia, Hypergonadotropic hypogonadism, Lower limb muscle weakness	OMIM:619737
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog...	OMIM:300559
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Orthostatic Intolerance	Orthostatic tachycardia, Elevated urinary norepinephrine level	OMIM:604715
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Male hypogonadism, Joi...	OMIM:615381
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resi...	ORPHA:2348
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co...	OMIM:603553
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st...	OMIM:615710
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Eleva...	ORPHA:230
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten...	OMIM:251880
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Stage 5 chronic kidney dis...	OMIM:608612
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Alg6-Cdg	Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice	ORPHA:79320
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Abnormal muscle fiber morphology, Camptodactyly of toe, Hyperglycemia, Joint contrac...	OMIM:175700
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased mus...	ORPHA:465508
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty	OMIM:616033
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Rec...	ORPHA:2126
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Peritonitis, Hypoalbuminemia	ORPHA:656
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Hypoalbuminemia, Mental deterioration, Lymphopenia	OMIM:617575
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Irritability, Hypoalbuminemia, Macroves...	OMIM:613070
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Lympha...	OMIM:602579
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Ketonuria, Hypoglycemia, Hyperammonemia	OMIM:615453
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Intrahepatic cholestasis, ...	OMIM:227810
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration...	ORPHA:26793
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability, Reduced haptoglobin level	OMIM:612126
Pure Autonomic Failure	Anhidrosis, Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating ca...	ORPHA:441
Bardet-Biedl Syndrome 9	Renal insufficiency, Hyperglycemia	OMIM:615986
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia, Decreased glomerular filtration rate	OMIM:618182
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
S-Adenosylhomocysteine Hydrolase Deficiency	Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho...	ORPHA:88618
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:6
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Hyper...	ORPHA:263455
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul...	ORPHA:94086
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,...	ORPHA:79237
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata...	OMIM:262600
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
D-Glyceric Aciduria	Hyperglycinemia, Nonketotic hyperglycinemia, Hyperglycinuria, Increased circulating free fatty ac...	ORPHA:941
Placental Insufficiency	Insulin resistance	ORPHA:439167
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum...	OMIM:620010
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Hyperammonemi...	ORPHA:1667
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperl...	OMIM:248370
Riboflavin Transporter Deficiency	Optic disc pallor, Skeletal muscle atrophy, Facial palsy, Hypogonadism, Abnormal autonomic nervou...	ORPHA:97229
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa...	OMIM:608104
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:540
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperam...	ORPHA:292
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Choles...	ORPHA:440713
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Saccharopinuria	Mental deterioration, Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, C...	ORPHA:3124
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin-resistant diabet...	ORPHA:769
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi...	OMIM:226300
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ...	OMIM:614736
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Propionic Acidemia	Hepatomegaly, Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:35
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia, Hyperammonemia	ORPHA:664
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia, Cirrhosis, Ascites	ORPHA:367
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Cognitive impairment	ORPHA:172
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypoplasia of the p...	ORPHA:65288
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:79230
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Abnormal lymphatic vessel morphology, Ascites, Reduced proportion of CD4+ ef...	ORPHA:90362
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, ...	OMIM:617093
Parkinsonism-Dystonia 2, Infantile-Onset	Hypomimic face, Elevated urinary homovanillic acid, Abnormal autonomic nervous system physiology,...	OMIM:618049
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism, Hypothyroidism	ORPHA:90065
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Flexion contracture, Hyperglycemia, Panc...	OMIM:609069
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Retinitis Pigmentosa	Hypoplasia of penis, Optic atrophy, Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia	ORPHA:73272
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Centrally...	OMIM:613327
Short Syndrome	Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:269880
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, D...	ORPHA:280365
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Progressive neurologic deterioration, Bile duct proliferation, Hypoalbuminemia, Mac...	OMIM:618329
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis	ORPHA:75563
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, ...	OMIM:617156
Mitchell Syndrome	Limb muscle weakness, Abnormal autonomic nervous system physiology	OMIM:618960
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Necrotizing Enterocolitis	Hyponatremia, Hyperglycemia, Peritonitis, Abnormal glucose homeostasis	ORPHA:391673
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Cam...	OMIM:214150
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Wolfram Syndrome	Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Nephropathy, Abnormal mesentery m...	ORPHA:3463
Persistent Idiopathic Facial Pain	Abnormal autonomic nervous system physiology	ORPHA:398147
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology, Hyperhidrosis	OMIM:615548
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Optic atrophy, I...	ORPHA:401768
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Tenorio Syndrome	Macroglossia, Enuresis, Hypoglycemia, Hypoinsulinemia	OMIM:616260
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypog...	OMIM:619055
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hyperglycemia	ORPHA:134
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Irri...	OMIM:619487
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Leptin Deficiency Or Dysfunction	Micropenis, Hypogonadism, Decreased serum leptin	OMIM:614962
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal autonomic nervous system p...	ORPHA:139578
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Hyperlipoproteinemia, Type V	Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat...	OMIM:144650
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia	ORPHA:199276
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter	OMIM:210740
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin...	OMIM:300635
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic...	OMIM:617303
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Variant Abeta2M Amyloidosis	Chronic kidney disease, Abnormal skeletal muscle morphology, Hepatic amyloidosis, Renal amyloidos...	ORPHA:314652
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp...	OMIM:618892
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus	ORPHA:3085
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Attrv30M Amyloidosis	Nephropathy, Abnormal autonomic nervous system physiology, Abnormal renal physiology	ORPHA:85447
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Optic atrophy, Inc...	OMIM:261680
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Wilson Disease	Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ...	OMIM:277900
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers...	ORPHA:358
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi...	OMIM:613027
Silver-Russell Syndrome	Decreased muscle mass, Hypospadias, Precocious puberty, Insulin resistance, Hyperhidrosis, Recurr...	ORPHA:813
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal autonomic nervous sy...	ORPHA:330001
Leprechaunism	Hepatomegaly, Skeletal muscle atrophy, Insulin resistance, Long penis, Hyperinsulinemia, Hypercal...	ORPHA:508
Rett Syndrome	Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Abnormal autonomic nervous sys...	ORPHA:778
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance, Delayed puberty	ORPHA:90154
Porphyria Variegata	Hyponatremia, Proximal muscle weakness in upper limbs, Neurogenic bladder, Abnormal circulating p...	ORPHA:79473
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Biliary cirrhosis, Hepatitis, Abnor...	ORPHA:186
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Lactic...	ORPHA:3008
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Hyperinsulinemia, Nephroblastoma	ORPHA:2849
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, H...	ORPHA:171
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo...	ORPHA:37042
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Insulin resistance, Renal hypoplasi...	OMIM:616541
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin...	OMIM:231550
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Confusion, Peritonitis, Elevated circulating ...	ORPHA:36234
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Hypoglycemia, Hypo...	OMIM:616026
Trimethylaminuria	Splenomegaly, Depression, Anemia, Neutropenia	OMIM:602079
Short Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:3163
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Splenomegaly, Jaundice...	OMIM:222470
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Mental deterioration, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Hypoglycem...	OMIM:616113
Aromatase Deficiency	Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, He...	ORPHA:91
Pancreatic Agenesis 1	Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff...	OMIM:260370
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Monosomy 13Q34	Insulin resistance, Fetal pyelectasis, Hepatic steatosis, Hypercalcemia	ORPHA:96168
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Liver abscess, Hypoalbuminemia, Anemia	ORPHA:67
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Depression, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased circul...	ORPHA:89842
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Splenomegaly, Insulin resistance, Hypothyroidism	ORPHA:3452
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle ...	OMIM:124000
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin...	OMIM:608594
Tetanus	Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine level, Elevat...	ORPHA:3299
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulating ferritin concentration, Sple...	OMIM:235200
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Ascites	OMIM:618183
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Flexion contracture, Interphalangeal thumb joint contracture, Abnormal aut...	OMIM:613870
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Glucose intolerance	OMIM:309620
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocyto...	ORPHA:14
Fabry Disease	Renal insufficiency, Proteinuria, Hypohidrosis, Urinary mulberry cells, Abnormal autonomic nervou...	OMIM:301500
Werner Syndrome	Renal neoplasm, Skeletal muscle atrophy, Insulin resistance, Hypogonadism, Thyroid carcinoma, Typ...	ORPHA:902
Pancreatic Agenesis 2	Diabetes mellitus, Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancrea...	OMIM:615935
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr...	OMIM:203800
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Flexion contracture	ORPHA:90153
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ...	OMIM:269700
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis...	ORPHA:83601
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Bardet-Biedl Syndrome 1	Diabetes mellitus, Aganglionic megacolon, Abnormality of the kidney, Nephrogenic diabetes insipid...	OMIM:209900
Multiple System Atrophy	Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ...	ORPHA:102
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Hypospadias, Decreased response to growth hormone stimulation test, Precoc...	ORPHA:96182
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys...	OMIM:243180
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Neon...	OMIM:619046
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Hypoalbuminem...	OMIM:235510
Indifference To Pain, Congenital, Autosomal Recessive	Anhidrosis, Urinary incontinence, Hypohidrosis, Abnormal autonomic nervous system physiology, Abn...	OMIM:243000
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Atypical Werner Syndrome	Renal neoplasm, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Skeletal muscle atrop...	ORPHA:79474
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Multiple System Atrophy, Parkinsonian Type	Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ...	ORPHA:98933
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D...	OMIM:300842
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Optic atrophy, Abnormal autonomic nervous system physiology, Limb hypertonia	OMIM:614498
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, Thrombocytosis, Hepatic ste...	OMIM:212065
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:85414
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Xfe Progeroid Syndrome	Ascites, Hypoalbuminemia	OMIM:610965
Melkersson-Rosenthal Syndrome	Macroglossia, Abnormal autonomic nervous system physiology, Facial palsy, Oligosacchariduria	ORPHA:2483
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Abnormal autonomic nervous system physiology	ORPHA:163921
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Neurogenic bladder, Multiple joint contractures, Optic atrophy, Hepatosplenomegaly, Abnormal auto...	ORPHA:466934
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Alg12-Cdg	Hyponatremia, Recurrent hypoglycemia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Th...	ORPHA:79324
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Absent gallbladder, Diabetes mellitus, Congenital diaphragmatic hernia, Bil...	OMIM:600001
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, E...	OMIM:137920
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Ascites, Hypoalbuminemia	ORPHA:567546
Alexander Disease	Diabetes mellitus, Facial palsy, Precocious puberty, Hyperhidrosis, Abnormal autonomic nervous sy...	ORPHA:58
Alexander Disease Type Ii	Limb muscle weakness, Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system ph...	ORPHA:363722
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ...	ORPHA:189427
Multiple System Atrophy, Cerebellar Type	Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ...	ORPHA:227510
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Impaired glucose tolerance, Polyuria, Insulin resi...	OMIM:606721
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Chylous ascites, Hypoalbuminemia, Cir...	ORPHA:90363
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Bone marrow hypocellularity, Enlarged ki...	ORPHA:505248
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Progressive neurologic deterioration, Splenomegaly, Depression, Demen...	OMIM:231000
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex...	OMIM:167800
Scorpion Envenomation	Acute pancreatitis, Ketonuria, Increased circulating NT-proBNP concentration, Rhabdomyolysis, Inc...	ORPHA:466677
Leukodystrophy, Hypomyelinating, 12	Neurogenic bladder, Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:616683
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Erythermalgia, Primary	Xerostomia, Abnormal autonomic nervous system physiology, Hyperhidrosis	OMIM:133020
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Abnormal autonomic nervous system physiology	ORPHA:168593
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Hypoglycemia, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, Unco...	OMIM:613658
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Abnormal autonomic nervous system physiology, Left...	ORPHA:85451
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Hypogonadotropic hypogonadism, Autonomic bladder dysfunction, Delayed puberty	ORPHA:447896
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic bladder dysfunction, Decreased sweating due to autonomic dysfunction, Autonomic erectil...	OMIM:169500
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h...	ORPHA:79240
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy...	ORPHA:273
Multiple System Atrophy 1, Susceptibility To	Anhidrosis, Orthostatic hypotension, Skeletal muscle atrophy, Urinary incontinence, Hypohidrosis,...	OMIM:146500
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia	OMIM:235555
Adult-Onset Still Disease	Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-reactive protein ...	ORPHA:829
Machado-Joseph Disease	Distal amyotrophy, Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system physi...	OMIM:109150
Fatal Familial Insomnia	Urinary retention, Abnormal autonomic nervous system physiology, Hyperhidrosis	OMIM:600072
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ...	ORPHA:3337
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati...	ORPHA:94093
Infantile Neuroaxonal Dystrophy	Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of ...	ORPHA:35069
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Nephrolithiasis, Increase...	OMIM:219090
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Inherited Creutzfeldt-Jakob Disease	Vestibular nystagmus, Abnormal autonomic nervous system physiology	ORPHA:282166
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun...	OMIM:607765
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Diabetes mellitus...	ORPHA:93111
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked...	ORPHA:99027
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st...	ORPHA:3464
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ...	ORPHA:231222
Caribbean Parkinsonism	EMG: myopathic abnormalities, Orthostatic hypotension, Abnormal autonomic nervous system physiolo...	ORPHA:97355
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Renal Nutcracker Syndrome	Orthostatic hypotension, Proteinuria, Hematuria, Renal artery stenosis, Abnormal autonomic nervou...	ORPHA:71273
Juvenile Polyposis Of Infancy	Refractory anemia, Hypoalbuminemia, Anemia	ORPHA:79076
Bloom Syndrome	Insulin resistance, Recurrent urinary tract infections, Diabetes mellitus, Nephroblastoma	ORPHA:125
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Romano-Ward Syndrome	Hypokalemia, Abnormal autonomic nervous system physiology	ORPHA:101016
Amyloidosis, Hereditary, Transthyretin-Related	Abnormal autonomic nervous system physiology, Urinary incontinence, Orthostatic hypotension due t...	OMIM:105210
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Horseshoe kidney, Macroglossi...	ORPHA:444077
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni...	OMIM:609136
Trisomy 20P	Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormality of the ureter, Abnor...	ORPHA:261318
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology	OMIM:300894
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep...	OMIM:618641
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hep...	OMIM:220111
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Hypomimic face, Abnormal autonomic nervous system physiology, Urinary incontinence, Abnormal cran...	ORPHA:247234
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Hypothyroidism, Macroglossia, Abnormal autonomic nervous system physiology, Vesicoureteral reflux...	ORPHA:453499
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology	OMIM:614575
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Congenital fibrosis of extraocular muscles, Torticollis, Abnormal autonom...	ORPHA:300570
Autoimmune Hepatitis	Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant hepatitis, Jaundice, Depressi...	ORPHA:2137
Insensitivity To Pain, Congenital, With Anhidrosis	Anhidrosis, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system...	OMIM:256800
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp...	OMIM:615895
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Elevated circulating 7-de...	OMIM:270400
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Urinary bladder sphincter dysfunction, Hypothyroidism, Abnormal autonomic nervous s...	ORPHA:93256
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	ORPHA:158048
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Irritability, Decreased serum zinc, Emotional lability	OMIM:201100
Haddad Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:99803
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Abnormal autonomic nervous system physiology, Hypomimic face	ORPHA:171695
Acute Transverse Myelitis	Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Upper ...	ORPHA:139417
Parkinson Disease, Late-Onset	Urinary urgency, Abnormal autonomic nervous system physiology	OMIM:168600
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperplasia, Hyperlipid...	ORPHA:567983
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc...	ORPHA:90041
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cardiomegaly, Splenomegaly, Hypoalbuminemia, Ascites	ORPHA:75565
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentratio...	OMIM:276700
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Abnormal autonomic nervous system physiology	OMIM:617903
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Increased circulating ferritin ...	OMIM:619534
Stuve-Wiedemann Syndrome 1	Elbow flexion contracture, Knee flexion contracture, Hyperhidrosis, Abnormal autonomic nervous sy...	OMIM:601559
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:612852
Tick-Borne Encephalitis	Skeletal muscle atrophy, Facial palsy, Elevated circulating C-reactive protein concentration, Abn...	ORPHA:297
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Hyperlip...	OMIM:232220
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia, Microv...	OMIM:619418
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Combined Oxidative Phosphorylation Defect Type 29	Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali...	ORPHA:64
Young-Onset Parkinson Disease	Abnormal autonomic nervous system physiology	ORPHA:2828
Ramos-Arroyo Syndrome	Xerostomia, Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:1051
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Hypohidrosis, Hyperhidro...	ORPHA:3206
Lambert-Eaton Myasthenic Syndrome	Xerostomia, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomi...	ORPHA:43393
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Leprosy	Skeletal muscle atrophy, Abnormality of the spleen, Abnormality of the seventh cranial nerve, Hyp...	ORPHA:548
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Prader-Willi Syndrome	Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul...	OMIM:176270
Alternating Hemiplegia Of Childhood	Facial hypotonia, Abnormal autonomic nervous system physiology, Hyperhidrosis	ORPHA:2131
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hyperhidrosis	OMIM:209880
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Delayed menarche, Pubertal devel...	ORPHA:740
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Nmda Receptor Encephalitis	Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Abnormal autonomic nerv...	ORPHA:217253
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
Isolated Biliary Atresia	Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Pmm2-Cdg	Multiple joint contractures, Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating gro...	ORPHA:79318
Nestor-Guillermo Progeria Syndrome	Flexion contracture, Decreased serum leptin	OMIM:614008
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Spleno...	ORPHA:2388
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Keppen-Lubinsky Syndrome	Flexion contracture, Decreased serum leptin	OMIM:614098
Liver Disease, Severe Congenital	Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic...	OMIM:619991
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine...	OMIM:613471
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ...	ORPHA:99413
Turner Syndrome	High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ...	ORPHA:881
Mosaic Monosomy X	High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ...	ORPHA:99226

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Prkaa2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prkaa2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Macrophage Sprouty4 deficiency diminishes sepsis-induced acute lung injury in mice.	Redox biology (October 2022)	Prkaa2^{tm1a(EUCOMM)Hmgu}	PMC9637958

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Prkaa2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Prkaa2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Prkaa2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Prkaa2 MGI:1336173

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Adult LacZ

Embryo LacZ

X-ray

Auditory Brain Stem Response

Immunophenotyping

Immunophenotyping

Human diseases caused by Prkaa2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data