Gene Summary

Name:
ATP binding cassette subfamily G member 8
Synonyms:
1300003C16Rik,  Sterolin-2

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 NK T cell number Abcg8tm1b(KOMP)Wtsi HOM   Early adult 6.45×10-05
increased circulating alkaline phosphatase level Abcg8tm1b(KOMP)Wtsi HOM Early adult 2.48×10-26
decreased CD4-positive, alpha beta T cell number Abcg8tm1b(KOMP)Wtsi HOM   Early adult 1.76×10-06
decreased memory-marker CD4-negative NK T cell number Abcg8tm1b(KOMP)Wtsi HOM   Early adult 3.94×10-06
enlarged liver Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased B-2 B cell number Abcg8tm1b(KOMP)Wtsi HOM Early adult 9.67×10-11
increased circulating alanine transaminase level Abcg8tm1b(KOMP)Wtsi HOM Early adult 3.41×10-08
increased circulating aspartate transaminase level Abcg8tm1b(KOMP)Wtsi HOM Early adult 1.30×10-08
decreased CD8-positive, alpha-beta T cell number Abcg8tm1b(KOMP)Wtsi HOM   Early adult 1.71×10-05
abnormal heart left ventricle morphology Abcg8tm1b(KOMP)Wtsi HOM   Early adult 3.55×10-05
decreased circulating sodium level Abcg8tm1b(KOMP)Wtsi HOM Early adult 4.40×10-10
increased circulating cholesterol level Abcg8tm1b(KOMP)Wtsi HOM Early adult 2.57×10-15
immune system phenotype Abcg8tm1b(KOMP)Wtsi HOM   Early adult 9.14×10-07
enlarged spleen Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased hematocrit Abcg8tm1b(KOMP)Wtsi HOM Early adult 1.69×10-05
increased circulating triglyceride level Abcg8tm1b(KOMP)Wtsi HOM Early adult 8.29×10-37
increased red blood cell distribution width Abcg8tm1b(KOMP)Wtsi HOM Early adult 6.20×10-13
cataract Abcg8tm1b(KOMP)Wtsi HOM   Early adult 5.35×10-05
decreased circulating iron level Abcg8tm1b(KOMP)Wtsi HOM Early adult 6.66×10-06
abnormal liver morphology Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal spleen morphology Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased T cell number Abcg8tm1b(KOMP)Wtsi HOM   Early adult 7.77×10-06
increased mean platelet volume Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
increased lung elastance Abcg8tm1b(KOMP)Wtsi HOM   Early adult 9.28×10-07
female infertility Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
impaired righting response Abcg8tm1b(KOMP)Wtsi HOM Early adult 2.91×10-09
increased cardiac muscle contractility Abcg8tm1b(KOMP)Wtsi HOM   Early adult 8.73×10-06
increased circulating creatinine level Abcg8tm1b(KOMP)Wtsi HOM Early adult 1.41×10-05
decreased mean corpuscular hemoglobin Abcg8tm1b(KOMP)Wtsi HOM Early adult 4.84×10-15
decreased hemoglobin content Abcg8tm1b(KOMP)Wtsi HOM Early adult 8.82×10-08
decreased circulating serum albumin level Abcg8tm1b(KOMP)Wtsi HOM Early adult 1.47×10-08
abnormal cholesterol homeostasis Abcg8tm1b(KOMP)Wtsi HOM Early adult 1.28×10-26
decreased mean corpuscular volume Abcg8tm1b(KOMP)Wtsi HOM Early adult 5.41×10-10
decreased CD4-negative NK T cell number Abcg8tm1b(KOMP)Wtsi HOM Early adult 6.14×10-06
male infertility Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased mean corpuscular hemoglobin concentration Abcg8tm1b(KOMP)Wtsi HOM Early adult 3.21×10-09
increased circulating potassium level Abcg8tm1b(KOMP)Wtsi HOM Early adult 3.63×10-09
increased fasting circulating glucose level Abcg8tm1b(KOMP)Wtsi HOM Early adult 2.09×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 0.0% (0 of 4)
Aorta  Section images heterozygote 0.0% (0 of 4)
Bone  Section images heterozygote 0.0% (0 of 4)
Brain  Section images heterozygote 25% (1 of 4)
Brainstem  Section images heterozygote 0.0% (0 of 4)
Brown adipose tissue  Section images heterozygote 0.0% (0 of 4)
Cartilage tissue  Section images heterozygote 25% (1 of 4)
Cecum  Section images heterozygote 25% (1 of 4)
Cerebellum  Section images heterozygote 0.0% (0 of 4)
Cerebral cortex  Section images heterozygote 0.0% (0 of 4)
Chest bone  Section images heterozygote 0.0% (0 of 4)
Colon  Section images heterozygote 0.0% (0 of 4)
Cranium  Section images heterozygote 0.0% (0 of 4)
Diaphragm  Section images heterozygote 0.0% (0 of 4)
Duodenum  Section images heterozygote 25% (1 of 4)
Esophagus  Section images heterozygote 0.0% (0 of 4)
Eye  Section images heterozygote 0.0% (0 of 4)
Gall bladder  Section images heterozygote 25% (1 of 4)
Harderian gland  Section images heterozygote 0.0% (0 of 4)
Heart  Section images heterozygote 0.0% (0 of 4)
Hindlimb  Section images heterozygote 0.0% (0 of 4)
Hippocampus  Section images heterozygote 0.0% (0 of 4)
Hypothalamus  Section images heterozygote 0.0% (0 of 4)
Ileum  Section images heterozygote 50% (2 of 4)
Jejunum  Section images heterozygote 50% (2 of 4)
Kidney  Section images heterozygote 0.0% (0 of 4)
Large intestine  Section images heterozygote 0.0% (0 of 4)
Liver  Section images heterozygote 50% (2 of 4)
Lower urinary tract  Section images heterozygote 0.0% (0 of 4)
Lung  Section images heterozygote 0.0% (0 of 4)
Lymph node  Section images heterozygote 0.0% (0 of 4)
Mammary gland  Section images heterozygote 0.0% (0 of 4)
Olfactory lobe  Section images heterozygote 0.0% (0 of 4)
Oral epithelium  Section images heterozygote 0.0% (0 of 4)
Ovary  Section images heterozygote 0.0% (0 of 4)
Oviduct  Section images heterozygote 0.0% (0 of 4)
Pancreas  Section images heterozygote 25% (1 of 4)
Parathyroid gland  Section images heterozygote 25% (1 of 4)
Penis  Section images heterozygote 0.0% (0 of 4)
Peripheral nervous system  Section images heterozygote 0.0% (0 of 4)
Peyer's patch  Section images heterozygote 25% (1 of 4)
Pituitary gland  Section images heterozygote 0.0% (0 of 4)
Prostate gland  Section images heterozygote Not available
Quadriceps  Section images heterozygote 0.0% (0 of 4)
Skeletal muscle  Section images heterozygote 0.0% (0 of 4)
Skin  Section images heterozygote 0.0% (0 of 4)
Small intestine  Section images heterozygote 50% (2 of 4)
Spinal cord  Section images heterozygote 0.0% (0 of 4)
Spleen  Section images heterozygote 0.0% (0 of 4)
Stomach  Section images heterozygote 0.0% (0 of 4)
Striatum  Section images heterozygote 25% (1 of 4)
Submandibular gland  Section images heterozygote 25% (1 of 4)
Testis  Section images heterozygote 25% (1 of 4)
Thymus  Section images heterozygote 25% (1 of 4)
Thyroid gland  Section images heterozygote 0.0% (0 of 4)
Tongue  Section images heterozygote 25% (1 of 4)
Trachea  Section images heterozygote 0.0% (0 of 4)
Urinary bladder  Section images heterozygote 0.0% (0 of 4)
Uterus  Section images heterozygote 0.0% (0 of 4)
Vagina  Section images heterozygote 0.0% (0 of 4)
Vascular system  Section images heterozygote 0.0% (0 of 4)
White adipose tissue  Section images heterozygote 0.0% (0 of 4)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Epididymis N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Main olfactory bulb N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Parotid gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thalamus N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Head N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
cranium 1.59% (1 of 63)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
inner ear 1.59% (1 of 63)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
vibrissa 1.37% (1 of 73)

Associated Images

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

Adult LacZ

LacZ Images Section

128 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Hind Leg and Hip

29 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

26 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

Human diseases caused by Abcg8 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.

The table below shows human diseases associated to Abcg8 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Abcg8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hepatomegaly, Hypertriglycer... OMIM:232700
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia OMIM:619175
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Elevated hepatic transamina... OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Abnormal circulating lipid concentration OMIM:615238
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Dyspnea, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Sple... OMIM:607616
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Pneumonia, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Ab... OMIM:209950
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Recurrent sinusitis, Thrombocytop... OMIM:613101
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia, Neutropenia, Ataxia OMIM:616949
Apolipoprotein A-I Deficiency
Corneal opacity, Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of th... ORPHA:425
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... OMIM:613313
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Elevated hepatic transaminase, Microcytic anemia, Hepatic steatos... OMIM:619013
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Exocrine pancreatic insufficiency, E... ORPHA:1667
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Respiratory insufficiency, Pulmonary arterial hypertension, Thromboc... OMIM:613845
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Primary amenorrhea, He... OMIM:612526
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Pulmonary arterial hypertension... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ih
Abnormal heart morphology, Cholestasis, Thrombocytopenia, Hepatomegaly, Decreased liver function,... OMIM:608104
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hepatic steatosis, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Legionnaires Disease
Restrictive ventilatory defect, Arrhythmia, Endocarditis, Pericarditis, Hypotension, Myocarditis,... ORPHA:549
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Insulin resistance, Hypotension, Erectile dysfunction,... ORPHA:3452
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Congenital Enterovirus Infection
Respiratory distress, Leukocytosis, Abnormal macrophage morphology, Pleural effusion, Hypotension... ORPHA:292
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Elevated hepatic transam... ORPHA:398063
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Ataxia, Hepatomegaly, Jaundice, Cataract, Splenomegaly, Hyperkalemia OMIM:608885
Mirage Syndrome
Intracranial hemorrhage, Hypergonadotropic hypogonadism, Lymphopenia, Hyponatremia, Achalasia, Hy... OMIM:617053
Lcat Deficiency
Hemolytic anemia, Corneal opacity, Hypertension, Hepatomegaly, Hypertriglyceridemia, Splenomegaly... ORPHA:650
Myh9-Related Disease
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Pre... ORPHA:182050
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepat... OMIM:300635
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Avian Influenza
Cough, Pneumonia, Hypoalbuminemia, Leukopenia, Elevated circulating C-reactive protein concentrat... ORPHA:454836
Necrotizing Enterocolitis
Peritonitis, Apnea, Abnormal heart morphology, Leukocytosis, Hypotension, Hyponatremia, Neutropen... ORPHA:391673
Nephrotic Syndrome, Type 14
Lymphopenia, Ataxia, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia, Hypogonadism OMIM:617575
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Ventricular septal hypertrophy, Elevated circulating creatine kinase concen... ORPHA:370
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Elevated hepatic transaminase, Ne... ORPHA:540
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure ORPHA:75234
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Pericardial effusion, Neutr... ORPHA:167
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hepatomegaly, Hypogonadis... OMIM:615234
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Respiratory insufficiency, Th... ORPHA:848
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Eosinophilic Gastroenteritis
Allergic rhinitis, Hematochezia, Leukocytosis, Steatorrhea, Elevated circulating C-reactive prote... ORPHA:2070
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Amenorrhe... OMIM:604250
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Preeclampsia
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Elevated systolic blood pr... ORPHA:275555
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Restrictive cardiomyopathy, Impa... OMIM:619313
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Thrombocytopenia, Myocardial infarction, Leukocyte inclusion bodies, Menorrhagia, Gian... OMIM:155100
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Hyponatremia, Cerebral vasculitis, Leukocytosis ORPHA:83601
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Respiratory par... ORPHA:449285
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Atrial septal defect, Abnormality of iron homeostasis, Aortic regurgit... ORPHA:84064
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Opacification of the corneal stroma,... OMIM:245900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Oligomenorr... ORPHA:264580
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Cholest... OMIM:617156
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Ventilator dependence with inability to wean,... ORPHA:100924
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Abnorma... ORPHA:98870
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Aortic regurgitation, Ventricular sep... OMIM:222470
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Atrial septal defect, Respiratory distress, Enlarged kidney, Macrovesicular ... OMIM:617303
Herpes Simplex Virus Encephalitis
Leukocytosis, Respiratory failure requiring assisted ventilation, Hyponatremia, Elevated circulat... ORPHA:1930
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Dyspnea, Constrictive pericarditis, Elevated hepatic transaminase, Leukocytosis, Pl... ORPHA:67
Shigellosis
Peritonitis, Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Hyponatremia, Pneu... ORPHA:810
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Pain insensitivity, Ataxia, Impaired vibration sensation in the lower limbs... ORPHA:94124
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Budd-Chiari syndrome, Jaundice, Hypercalcemia,... ORPHA:88673
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Abetalipoproteinemia
Reticulocytosis, Hypoalbuminemia, Anemia, Impaired proprioception, Abnormal circulating apolipopr... ORPHA:14
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Xanthelasma, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Jaun... ORPHA:275761
Fechtner syndrome
Developmental cataract, Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelet... OMIM:153640
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology DECIPHER:16
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia, Shock OMIM:600351
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Postural hypotension with compensatory tachycardia, I... ORPHA:85443
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Impaired glucose t... OMIM:606069
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Porphyria Variegata
Elevated hepatic transaminase, Hepatocellular carcinoma, Hyponatremia, Hypertension, Respiratory ... ORPHA:79473
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Distal sensory impairment OMIM:607250
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
X-Linked Sideroblastic Anemia
Dyspnea, Glucose intolerance, Abnormality of iron homeostasis, Elevated hepatic transaminase, Ane... ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... OMIM:613673
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Decreased circulating cortisol level, Hyponatremia, Hyperur... ORPHA:199299
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Infertility, Cirrhosis, Arrhythmia, Azoospermia, Am... OMIM:602390
Refractory Anemia With Excess Blasts
Palpitations, Abnormal circulating albumin concentration, Exertional dyspnea, Leukocytosis, Throm... ORPHA:86839
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Oligomenorrhea, Insulin resistance, Hepatic steatosis, Hyperuricemi... ORPHA:79083
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Pleural effusion, Lymphopenia, Pericardial... ORPHA:90362
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyperuricemia, Pulmonary embolism, Elevated circulating creatine kin... ORPHA:94093
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Budd-Chiari syndrome, Pneumonia, Hepatom... OMIM:226300
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ataxia, Splenomegaly ORPHA:2274
Relapsing Fever
Increased total bilirubin, Elevated hepatic transaminase, Leukocytosis, Hypotension, Elevated cir... ORPHA:91547
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Respiratory distress, Elevated hepatic transaminase, Respiratory insufficiency, Hepato... ORPHA:367
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Central apnea, Conjunctival icterus, Abnormal conjunctiva morpho... ORPHA:529808
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Central apnea, Abnormal conjunctiva morphology, Conjunctival ict... ORPHA:529799
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Cholelithiasis OMIM:177000
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymph... ORPHA:100025
Sebastian syndrome
Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bo... OMIM:605249
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Combined Oxidative Phosphorylation Deficiency 9
Dyspnea, Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614582
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lymphopenia, Thrombocytopenia, Hepatomegaly, Hypertriglyceridemia,... OMIM:617591
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Hypotension, Decreased circulating cortisol level, Hyponatr... ORPHA:95409
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis,... OMIM:212065
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Developmental cataract, Gait ataxia, Glucose intolerance, Orthostatic hypot... OMIM:606721
Generalized Pseudohypoaldosteronism Type 1
Recurrent tonsillitis, Wheezing, Arrhythmia, Cough, Hyponatremia, Increased circulating renin lev... ORPHA:171876
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly,... OMIM:237800
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Hypertension, Hepatic fibrosis,... ORPHA:280356
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Respiratory distress, Cardiorespir... ORPHA:31824
Slc35A1-Cdg
Pulmonary hemorrhage, Respiratory distress, Neutropenia, Pneumonia, Thrombocytopenia, Giant plate... ORPHA:238459
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Increased circulating chylomicron concentration, Hypertriglyc... OMIM:207750
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage OMIM:137560
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Dyspnea, Reticulocytosis, Thrombocytopenia, Myocar... ORPHA:54057
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Pituitary Apoplexy
Increased circulating cortisol level, Oligomenorrhea, Hypotension, Hypergonadotropic hypogonadism... ORPHA:95613
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Bronchiectasis, Autoimmune thrombocytopenia, Hypotension, Decreased cir... ORPHA:293978
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulati... ORPHA:90038
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Tremor, Elevated hepatic transaminase, Hepatic steatosis, ... ORPHA:247585
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... ORPHA:231222
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Pneumonia, Hypoalbuminem... ORPHA:2298
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Epistaxis, Increased mean platelet volume, Menorrhagia, Splenom... OMIM:153670
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, An... ORPHA:79312
Lathosterolosis
Elevated hepatic transaminase, Intrahepatic cholestasis, Abnormal circulating cholesterol concent... OMIM:607330
Cog4-Cdg
Hypercholesterolemia, Cirrhosis, Fatal liver failure in infancy, Elevated hepatic transaminase, A... ORPHA:263501
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Hypoa... OMIM:602579
Addison Disease
Orthostatic hypotension, Thiamine-responsive megaloblastic anemia, Decreased circulating cortisol... ORPHA:85138
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Respiratory distress, Hypotension, Myocarditis, Elevated circulating c... ORPHA:36234
Vitamin B12-Unresponsive Methylmalonic Acidemia
Respiratory insufficiency, Ataxia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia, Leukopen... ORPHA:27
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cardiomegaly, Telangiectasia, Cardiomyopathy, Cirrh... OMIM:235200
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Congestive heart failu... ORPHA:2348
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Arrhythmia, Hemolytic anemia, Hyperkalemia ORPHA:57
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neu... OMIM:169400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Analbuminemia
Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, Hypoalbuminemi... OMIM:616000
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia, Ventricular arrhythmia OMIM:141000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Stridor, Respiratory distress, Patent foramen ovale, Abnormal heart morphol... ORPHA:505248
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Hypoalbuminemia, ... OMIM:208920
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Hypergonadotropic hypogon... ORPHA:66628
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Adenohypophysitis
Orthostatic hypotension, Amenorrhea, Decreased circulating cortisol level, Hyponatremia, Impotenc... ORPHA:95512
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Hypergonadotropic hypogon... ORPHA:179494
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Amenorrhea, Oligomenorrhea, Decreased circulating cortisol... ORPHA:91355
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Increased circ... OMIM:610600
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Hyperuricemia,... OMIM:604367
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Ataxia, ... ORPHA:363400
Diffuse Alveolar Hemorrhage
Restrictive ventilatory defect, Dyspnea, Leukocytosis, Elevated circulating creatinine concentrat... ORPHA:90060
Hyperkalemic Periodic Paralysis
Arrhythmia, Paresthesia, Hyponatremia, Respiratory insufficiency, Hypokalemia, Congestive heart f... ORPHA:682
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Por... OMIM:616278
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Tremor, Increased blood urea nitrogen, Respiratory distress, R... OMIM:274150
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Hepatic steatosis,... ORPHA:528
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Hypersplenism, Enlarged kidney, Periportal fibrosis, Thrombocytopenia, Cholangitis, Asc... ORPHA:731
Panhypophysitis
Orthostatic hypotension, Amenorrhea, Decreased circulating cortisol level, Hyponatremia, Impotenc... ORPHA:95513
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Chorea, Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia, ... ORPHA:289916
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556037
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556030
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity, Abnormality of the liver, Hepatomegaly ORPHA:1980
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia, Gastrointestinal hemorrhage ORPHA:2494
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hereditary Coproporphyria
Hepatocellular carcinoma, Hyponatremia, Respiratory insufficiency, Tachycardia, Abnormal circulat... ORPHA:79273
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Trimethylaminuria
Neutropenia, Hypertension, Splenomegaly, Tachycardia, Anemia, Recurrent pneumonia OMIM:602079
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Reduced hematocrit, Elevated circulating creatinine co... ORPHA:79126
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypotension, Decreased circulating cortisol level, ... ORPHA:199296
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Hypogonadism, ... ORPHA:181393
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Cirrhosis, Tachypnea, Elevated hepatic transaminase, Hepatic steatosis, Cough, Emph... OMIM:613658
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hemolytic anemia, Hypergonadotropic ... OMIM:230400
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Respirator... ORPHA:470
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertension, Hepatomegaly, Hypertriglyceridemia, Acute panc... OMIM:608600
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenop... OMIM:619164
Tangier Disease
Orange discolored tonsils, Coronary artery stenosis, Chronic noninfectious lymphadenopathy, Impai... ORPHA:31150
Galactosemia
Postural tremor, Cirrhosis, Elevated hepatic transaminase, Oligomenorrhea, Increased level of gal... ORPHA:352
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Respiratory distress, Ataxia OMIM:618426
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration, Elevated hepatic transamina... OMIM:614727
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Burkitt Lymphoma
Gastrointestinal hemorrhage, Decreased proportion of CD4-positive helper T cells, Abnormality of ... ORPHA:543
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia, Palpitations ORPHA:488650
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Leukocytosis, ST segment depression, Hypertension, Myocard... ORPHA:90065
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lymphad... ORPHA:911
H Syndrome
Azoospermia, Bronchiectasis, Microcytic anemia, Amenorrhea, Enlarged kidney, Abnormal cardiovascu... ORPHA:168569
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Abnormal thrombocyte morphology ORPHA:172
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypoalbuminemia, Hypertension ORPHA:54370
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia, Anemia, Respiratory insufficiency ORPHA:28
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... OMIM:615513
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Secondary amenorrhea OMIM:301033
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Hyponatremia, Impotence, Oligomenorrhea ORPHA:91354
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia OMIM:177735
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cardiomegaly, Elevated transferrin saturation, Card... ORPHA:465508
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hemolytic anemia, Dyspnea, Leukocytosis, Hyponatremia, Pneumonia, Pleural empyema, ... ORPHA:544482
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Increased blood urea nitrogen, Orthostatic hypotension, Insulin resistance, Hyperinsulin... ORPHA:230
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Neutropenia, Microcytic anemia OMIM:251900
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hypoadrenocorticism, Familial
Hyperkalemia, Apnea, Hyponatremia, Hypoglycemia OMIM:240200
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hypotension, Hyponatremia, Increased circulating renin level OMIM:203400
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Cardiomeg... ORPHA:75565
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Epistaxis, Anemia, Macrothrombocytopenia OMIM:616176
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:235400
Babesiosis
Hemolytic anemia, Cough, Respiratory insufficiency, Thrombocytopenia, Jaundice, Hepatomegaly, Myo... ORPHA:108
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Increased serum pyruvate, Ataxia, Hyperalaninemia, Splenomegaly, Hyperprol... OMIM:619046
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Steatorrhea, Hypocholesterolemia OMIM:266510
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertension, Hypertriglyceridemia, Myocardial infarction, Type II diabe... OMIM:618620
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thromboc... OMIM:613179
Primary Sclerosing Cholangitis
Jaundice, Hypoalbuminemia, Palmar telangiectasia, Cirrhosis, Acute hepatic failure, Abnormal bili... ORPHA:171
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptosporidium infection, Ga... ORPHA:572
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated hepatic t... ORPHA:79230
Alpha-Thalassemia-Myelodysplastic Syndrome
Dyspnea, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute le... ORPHA:231401
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:614736
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hypertension, Increased mean corpuscu... ORPHA:90044
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis ORPHA:79085
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Congestive heart failure, Ca... OMIM:269920
Seckel Syndrome 10
Ventricular hypertrophy, Glucose intolerance, Insulin resistance, Hepatic steatosis, Elevated hem... OMIM:617253
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Azoospermia, Elevated hepatic transaminase, Decreas... ORPHA:300298
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Respiratory i... OMIM:618278
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Griscelli Syndrome Type 2
Hemophagocytosis, Iris hypopigmentation, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splen... ORPHA:79477
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Atrial fi... OMIM:613327
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Prolonged neonat... OMIM:618892
Congenital Erythropoietic Porphyria
Hemolytic anemia, Paresthesia, Increased erythrocyte protoporphyrin concentration, Reticulocytosi... ORPHA:79277
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Abnormal circulating homocysteine concentration, Hepatocellular ca... ORPHA:88618
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hypotension, Hyponatremia, Hyperaldosteronism OMIM:264350
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Corneal erosion, Decreased serum iron, Decreased serum zinc, Hypoalbu... ORPHA:89842
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Pneumonia OMIM:618806
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia... ORPHA:567548
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine, Elevated systolic bl... OMIM:300539
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Pulmonary insufficiency, Lymphopenia, Sinusitis, B lymphocytop... ORPHA:277
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hepatomegaly, Hypercalcemia, Ascites, Anemia ORPHA:2123
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Azoospermia, Neonatal hypoglycemia, Hypotension, Decreased circulating cortisol level, Hyponatrem... ORPHA:90791
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Jaundice, Lactescent serum... OMIM:238600
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Secundum atrial septal defect, Decr... OMIM:611926
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Griscelli Syndrome
Iris hypopigmentation, Abnormality of neutrophils, Abnormal circulating lipid concentration, Atax...