Gene Summary

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

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
immune system phenotype Abcg8tm1b(KOMP)Wtsi HOM   Early adult 9.14×10-07
increased cardiac muscle contractility Abcg8tm1b(KOMP)Wtsi HOM   Early adult 4.41×10-05
decreased hemoglobin content Abcg8tm1b(KOMP)Wtsi HOM Early adult 9.48×10-07
increased red blood cell distribution width Abcg8tm1b(KOMP)Wtsi HOM Early adult 2.43×10-12
decreased mean corpuscular hemoglobin Abcg8tm1b(KOMP)Wtsi HOM Early adult 2.48×10-15
decreased mean corpuscular hemoglobin concentration Abcg8tm1b(KOMP)Wtsi HOM Early adult 6.38×10-09
enlarged spleen Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
male infertility Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
increased mean platelet volume Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
impaired righting response Abcg8tm1b(KOMP)Wtsi HOM Early adult 4.40×10-10
abnormal liver morphology Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased mean corpuscular volume Abcg8tm1b(KOMP)Wtsi HOM Early adult 5.31×10-10
enlarged liver Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased lung compliance Abcg8tm1b(KOMP)Wtsi HOM   Early adult 2.43×10-05
female infertility Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
increased lung elastance Abcg8tm1b(KOMP)Wtsi HOM   Early adult 2.44×10-07
abnormal lens morphology Abcg8tm1b(KOMP)Wtsi HOM   Early adult 2.99×10-05
decreased circulating sodium level Abcg8tm1b(KOMP)Wtsi HOM Early adult 2.78×10-10
decreased memory-marker CD4-negative NK T cell number Abcg8tm1b(KOMP)Wtsi HOM   Early adult 3.94×10-06
decreased T cell number Abcg8tm1b(KOMP)Wtsi HOM   Early adult 7.77×10-06
increased circulating triglyceride level Abcg8tm1b(KOMP)Wtsi HOM Early adult 3.64×10-39
abnormal spleen morphology Abcg8tm1b(KOMP)Wtsi HOM Early adult 0.00
increased circulating cholesterol level Abcg8tm1b(KOMP)Wtsi HOM Early adult 4.81×10-14
increased circulating potassium level Abcg8tm1b(KOMP)Wtsi HOM Early adult 3.26×10-09
increased circulating aspartate transaminase level Abcg8tm1b(KOMP)Wtsi HOM Early adult 7.61×10-09
decreased CD8-positive, alpha-beta T cell number Abcg8tm1b(KOMP)Wtsi HOM   Early adult 1.71×10-05
increased circulating alanine transaminase level Abcg8tm1b(KOMP)Wtsi HOM Early adult 2.81×10-08
cataract Abcg8tm1b(KOMP)Wtsi HOM   Early adult 5.93×10-05
abnormal heart left ventricle morphology Abcg8tm1b(KOMP)Wtsi HOM   Early adult 4.36×10-05
decreased circulating serum albumin level Abcg8tm1b(KOMP)Wtsi HOM Early adult 3.48×10-06
increased circulating alkaline phosphatase level Abcg8tm1b(KOMP)Wtsi HOM Early adult 4.99×10-26
decreased CD4-positive, alpha beta T cell number Abcg8tm1b(KOMP)Wtsi HOM   Early adult 1.76×10-06
decreased CD4-negative NK T cell number Abcg8tm1b(KOMP)Wtsi HOM Early adult 6.14×10-06
decreased B-2 B cell number Abcg8tm1b(KOMP)Wtsi HOM Early adult 9.67×10-11
increased circulating creatinine level Abcg8tm1b(KOMP)Wtsi HOM Early adult 1.50×10-05
decreased NK T cell number Abcg8tm1b(KOMP)Wtsi HOM   Early adult 6.45×10-05
decreased circulating iron level Abcg8tm1b(KOMP)Wtsi HOM Early adult 5.41×10-05
abnormal cholesterol homeostasis Abcg8tm1b(KOMP)Wtsi HOM Early adult 9.67×10-27

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 587)
aorta 0.17% (1 of 592)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cecum 5.8% (22 of 379)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
chest bone Unavailable
colon 15.83% (22 of 139)
cranium
diaphragm 0.0%
duodenum 3.68% (5 of 136)
epididymis 14.48% (21 of 145)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.72% (1 of 138)
heart 0.34% (2 of 588)
hindlimb 0.0%
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
ileum 13.97% (19 of 136)
jejunum 8.63% (12 of 139)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 319)
midbrain 0.0%
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.39% (2 of 144)
testis 1.02% (6 of 590)
thalamus 0.0%
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
tongue 3.65% (5 of 137)
trachea 0.51% (3 of 591)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.34% (2 of 589)
vagina 0.0%
vas deferens 4.64% (18 of 388)
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 1.25% (6 of 479)
central nervous system ganglion 1.49% (1 of 67)
cranium 1.64% (1 of 61)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
external ear 1.47% (1 of 68)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forearm 0.36% (1 of 281)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
humerus pre-cartilage condensation 1.69% (1 of 59)
inner ear 1.59% (1 of 63)
liver 0.21% (1 of 478)
lower leg 0.36% (1 of 281)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
nose 1.41% (1 of 71)
oral cavity 0.21% (1 of 470)
radius-ulna pre cartilage condensation 1.72% (1 of 58)
skeleton 1.33% (1 of 75)
skin 0.21% (1 of 474)
spinal cord 1.45% (1 of 69)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)
upper arm 0.35% (1 of 283)
upper leg 0.35% (1 of 288)
vibrissa 1.41% (1 of 71)

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 Whole Body Dorso Ventral

26 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Hind Leg and Hip

29 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... OMIM:232700
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic stea... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly OMIM:619175
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... OMIM:619868
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegal... OMIM:267700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... OMIM:605814
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Cataract, Hypoalbuminemia,... OMIM:618805
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Leishmaniasis
Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopeni... ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegal... OMIM:603553
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:616860
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Arrhythmia, Hyponatremia, Neutropenia OMIM:616949
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Neutropenia, Hepatomegaly... ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Cough, Hypertriglyceridemia, Elevated hepatic transaminase, Microcytic anemia... OMIM:619013
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elevated circulating C-... OMIM:308240
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hy... ORPHA:1667
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Leukopenia, Respiratory insufficiency, Thrombocytopenia, Hyperuricemia, Hyponatre... OMIM:613845
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Legionnaires Disease
Ataxia, Pancreatitis, Lymphopenia, Splenomegaly, Respiratory insufficiency, Arrhythmia, Endocardi... ORPHA:549
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Myh9-Related Disease
Neutrophil inclusion bodies, Menorrhagia, Congenital thrombocytopenia, Increased mean platelet vo... ORPHA:182050
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Ataxia, Hepatomegaly, Splenomegaly, Hemolytic anemia, Cataract, Jaundice, Hyperkalemia OMIM:608885
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hyperuricemia, Hypercholestero... OMIM:306000
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... OMIM:613673
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated tra... OMIM:613313
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... OMIM:612526
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Congenital Enterovirus Infection
Respiratory distress, Leukocytosis, Hyperammonemia, Hepatic failure, Leukopenia, Hypotension, Myo... ORPHA:292
Whipple Disease
Ataxia, Hepatomegaly, Splenomegaly, Anemia, Respiratory insufficiency, Mediastinal lymphadenopath... ORPHA:3452
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemia, Jaundice ORPHA:75234
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumonia, Hypoxemia... ORPHA:454836
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Ataxia, Hemophagocytosis, Increased proportion of C... ORPHA:167
Mirage Syndrome
Lymphopenia, Hypergonadotropic hypogonadism, Aspiration pneumonia, Intracranial hemorrhage, Leuko... OMIM:617053
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Menorrhagia, Myoc... OMIM:155100
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Right atrial enlargement, Restrictive cardiomyopath... OMIM:619313
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po... OMIM:618204
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, R... ORPHA:848
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cholestasis, Elevated circulating creatinine concentratio... OMIM:608104
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Abnormal lymphat... ORPHA:90362
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... ORPHA:540
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Hemochromatosis, Type 3
Amenorrhea, Increased circulating ferritin concentration, Impotence, Lymphopenia, Hypogonadotropi... OMIM:604250
Eosinophilic Gastroenteritis
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinop... ORPHA:2070
Alg8-Cdg
Ataxia, Elevated hepatic transaminase, Cataract, Hyponatremia, Anemia, Thrombocytopenia, Ascites ORPHA:79325
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Hemolytic anemia, H... OMIM:245900
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Snakebite Envenomation
Respiratory paralysis, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cere... ORPHA:449285
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Oligomenorrhea, Irregular menstruation, Abno... ORPHA:370
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Cataract, Abnormal circulating arginine concentrat... ORPHA:247598
Porphyria Due To Ala Dehydratase Deficiency
Myeloproliferative disorder, Respiratory insufficiency, Increased erythrocyte protoporphyrin conc... ORPHA:100924
Necrotizing Enterocolitis
Abnormal heart morphology, Apnea, Leukocytosis, Peritonitis, Hypotension, Shock, Hyponatremia, Ne... ORPHA:391673
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Respiratory fa... ORPHA:1930
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Galactokinase Deficiency
Hepatomegaly, Nuclear cataract, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased lev... ORPHA:79237
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... ORPHA:231226
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Impotence, Hepatomegaly, Cirrhosis, Elevated transf... OMIM:606069
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Hyponatremia, Thrombocytopenia, Leukocytosis ORPHA:83601
Syndromic Diarrhea
Bicuspid aortic valve, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Atrial septal def... ORPHA:84064
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Hypogonadism OMIM:617575
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Elev... ORPHA:98870
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Fechtner syndrome
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Developmental cataract, Gia... OMIM:153640
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Pain insensitivity, Impaired vibration sensation in the lower limbs, Hypoalbuminemia, Hyp... ORPHA:94124
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Pulmonic stenosis, Cirrhosis, Hepatic failure, Abnormality of the pan... OMIM:222470
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hepatic failure, Jaundice, Elevated hepatic transaminase, Hepatic fibrosis, Hyponatr... ORPHA:275761
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Lymphadenopathy OMIM:608971
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Al Amyloidosis
Autonomic erectile dysfunction, Hepatomegaly, Postural hypotension with compensatory tachycardia,... ORPHA:85443
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Macrothrombocytopenia, Giant plate... OMIM:231200
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Abnormal pericardium morphology, Pleural empyema, Constrictive pericarditis, Cough,... ORPHA:67
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Sc... OMIM:224120
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Atrial septal defect, Hypertrophic cardiomyopathy, Splenomega... OMIM:617303
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Distal sensory impairment, Hypercholesterolemia OMIM:607250
Abetalipoproteinemia
Corneal ulceration, Ataxia, Hepatomegaly, Steatorrhea, Reticulocytosis, Respiratory failure, Impa... ORPHA:14
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia DECIPHER:16
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hepatocellular Carcinoma
Hepatomegaly, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hyponatremia, Hepatic ... ORPHA:88673
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Ataxia, Neutropenia, Hepatomegaly, Abnormal T cell ... ORPHA:158048
Neuroleptic Malignant Syndrome
Chorea, Tremor, Hyperuricemia, Oculogyric crisis, Tachycardia, Pulmonary embolism, Arrhythmia, El... ORPHA:94093
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatos... ORPHA:367
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Epistaxis, Tac... ORPHA:91547
Preeclampsia
Abnormality of the hepatic vasculature, Elevated systolic blood pressure, Elevated hepatic transa... ORPHA:275555
Porphyria Variegata
Respiratory paralysis, Tachycardia, Hepatocellular carcinoma, Abnormal circulating porphyrin conc... ORPHA:79473
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Shigellosis
Splenic abscess, Corneal ulceration, Leukocytosis, Hypovolemic shock, Hepatic failure, Peritoniti... ORPHA:810
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Palpitations, Retinal hemorrhage, Abnormal mean co... ORPHA:86839
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hepatomegaly, Hypertriglyceridemia, Tremor, Dystonia OMIM:615924
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... OMIM:617156
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Intention tremor, Hypocholesterolemia, Anemia, Thrombocytopenia, Hype... OMIM:610539
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, ... OMIM:226300
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Sinusitis, Decreased proportion of CD4-positive hel... OMIM:312863
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic failure, Cirrhosis, ... OMIM:607765
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Ma... ORPHA:71275
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Irregular menstruation, Oligomenorrhea, Abno... ORPHA:264580
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis, Hypovolemic shock, Arrhythmia, Increased circulating renin... ORPHA:171876
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis OMIM:615193
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Ataxia, Hepatomegaly, Splenomegaly ORPHA:2274
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Giant platelets, Neutropenia, Hypoxemia, Pneumonia, T... ORPHA:238459
Acute Bilirubin Encephalopathy
Hypernatremia, Central apnea, Hemolytic anemia, Abnormal conjunctiva morphology, Conjunctival ict... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Central apnea, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morpho... ORPHA:529808
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... OMIM:207750
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly... OMIM:602390
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Colchicine Poisoning
Respiratory distress, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, ... ORPHA:31824
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Tre... OMIM:277900
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Pulmonary venous hypertension, Increased mean co... ORPHA:3202
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Lymphopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Eleva... OMIM:617591
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Ventricular arrhythmia, Hyperkalemia OMIM:141000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Dystonia, Acute pancreati... OMIM:619487
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Limb ataxia, Elevated circulating creatine kinase concentration, Truncal ataxia, Chorea, ... OMIM:208920
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
X-Linked Sideroblastic Anemia
Splenomegaly, Abnormality of iron homeostasis, Elevated hepatic transaminase, Dyspnea, Anemia ORPHA:75563
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Orthostatic hypotension, Eosinophilia, Normocytic anemia, H... ORPHA:199299
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Neutral Lipid Storage Disease With Ichthyosis
Subcapsular cataract, Ataxia, Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morpholo... ORPHA:98907
Lathosterolosis
Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Opacification of the corneal stroma,... OMIM:607330
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Pancreatitis, Leukocytosis, Peritonitis, Schistocytosis, Myocardial infarction, Elev... ORPHA:90038
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Decreased serum creatinine, Myocardial infarction, Dyspnea, Microangiopathic hemolyti... ORPHA:54057
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Citrullinemia, Type Ii, Adult-Onset
Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, Elevated circul... OMIM:603471
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Cog4-Cdg
Ataxia, Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Fatal liver failure in infa... ORPHA:263501
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets OMIM:137560
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Ascites, Anemia, Lymphadenopathy, Premature ovarian ins... ORPHA:100025
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Retic... OMIM:612126
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Irregular menstruation, Oligomenorrhea, Hepa... ORPHA:79240
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Oligomenorrhea, Primary amenor... ORPHA:79083
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hepatomegaly, Dysmetria, Steatorrhea, Hypergonadotropic hypogonadism, Intention tremor, T... OMIM:212065
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Splenomegaly, Menorrhagia, Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Epis... OMIM:153670
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Orthostatic hypotension, Hypovolemia, Normocytic anemia, Hy... ORPHA:95409
Bacterial Toxic-Shock Syndrome
Respiratory distress, Increased circulating myelocyte count, Sinusitis, Hypocalcemia, Peritonitis... ORPHA:36234
Marburg Hemorrhagic Fever
Pancreatitis, Elevated circulating creatinine concentration, Dysesthesia, Reticulocytosis, Perica... ORPHA:99826
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Pancreatitis, Splenomegaly, Hyperammonemia, Choreoathetosis, ... ORPHA:79312
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:613011
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Pituitary Apoplexy
Impotence, Increased circulating cortisol level, Hypergonadotropic hypogonadism, Oligomenorrhea, ... ORPHA:95613
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... OMIM:619991
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hypo... ORPHA:293978
Alg6-Cdg
Ataxia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Jaundice, Abnormality of the liver ORPHA:79320
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormality of neutrophils, Gia... OMIM:169400
Hyperkalemic Periodic Paralysis
Hypokalemia, Respiratory insufficiency, Elevated circulating creatine kinase concentration, Arrhy... ORPHA:682
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Airway obstruction, Increased DLCO, Leukocytosis, Respiratory fail... ORPHA:90060
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Elevated creatine kinase after exercise, Arrhythmia, Hyperkalemia ORPHA:57
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Abnormal heart morphology, Airway obstruction, Conjunctivitis, Tricuspid re... ORPHA:505248
Hereditary Coproporphyria
Respiratory insufficiency, Tachycardia, Hepatocellular carcinoma, Abnormal circulating porphyrin ... ORPHA:79273
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Hepatomegaly, Pancreatitis, Hyperammonemia, Leukopenia, Respiratory insufficiency, Macroc... ORPHA:27
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hypertriglyceridemia, Hepatic fibrosis, Hypertension, Hepatic steatosis ORPHA:280356
Alg12-Cdg
Muscular ventricular septal defect, B lymphocytopenia, Chronic rhinitis, Elevated hepatic transam... ORPHA:79324
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Increased circulating 18-hydroxycortisone level, Increased circulating r... OMIM:610600
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cirrhosis... OMIM:300972
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatic failure, Cervical ly... OMIM:619573
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Lymphadenop... OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Adenohypophysitis
Amenorrhea, Impotence, Decreased male libido, Decreased circulating cortisol level, Orthostatic h... ORPHA:95512
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased prop... OMIM:615559
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... ORPHA:209902
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Gastrointestinal hemorrhage, Sp... ORPHA:731
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Lcat Deficiency
Corneal opacity, Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol... ORPHA:650
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Ataxia, Hyponatremia OMIM:618426
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypoc... ORPHA:37042
Cd8 Deficiency, Familial
Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Tremor, Gait ataxia, Limb dystonia, Hypert... ORPHA:363400
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Increased circulating reni... ORPHA:556037
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Increased circulating reni... ORPHA:556030
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... OMIM:603554
Alg1-Cdg
Decreased liver function, Hypoalbuminemia, Respiratory failure, Cardiomyopathy, Abnormal heart mo... ORPHA:79327
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Increased blood urea nitrogen, Reticulocytosis, Schistocytosis, Myocardial ... OMIM:274150
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec... OMIM:615513
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated hyperbilirubin... OMIM:214900
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Galactosemia
Ataxia, Action tremor, Hepatomegaly, Hepatic failure, Cirrhosis, Increased level of galactitol in... ORPHA:352
Addison Disease
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Normocytic anemia, Hypote... ORPHA:85138
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Hypoxemia, Nonproductive cough, Crackles, ... ORPHA:79126
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Hypertriglyceridemia, Secondary amenorrhe... ORPHA:2348
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Orthostatic hypotension due to autonomic... ORPHA:66628
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Panhypophysitis
Amenorrhea, Impotence, Decreased male libido, Decreased circulating cortisol level, Orthostatic h... ORPHA:95513
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated... OMIM:616278
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Splenomega... OMIM:613490
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... ORPHA:2442
Galactosemia I
Decreased liver function, Hepatomegaly, Increased level of galactitol in red blood cells, Aminoac... OMIM:230400
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Steat... ORPHA:470
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Orthostatic hypotension due to autonomic... ORPHA:179494
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, ... OMIM:613027
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Abnormality of the lymph nodes, Lymphadenitis, Eosinophilia, Hepatosplenomegaly, A... ORPHA:911
Tangier Disease
Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Left ventricular hype... ORPHA:31150
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Hypercholesterolemia OMIM:301033
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Sheehan Syndrome
Amenorrhea, Impotence, Dyspareunia, Decreased circulating cortisol level, Orthostatic hypotension... ORPHA:91355
Hemochromatosis, Type 1
Amenorrhea, Increased circulating ferritin concentration, Testicular atrophy, Impotence, Hepatome... OMIM:235200
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Hepatomegaly, Abnormality of the lymph nodes, Decreased circulating apo... ORPHA:85450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Pancreatitis, Hepatomegaly, Hyperammonemia, Chorea, Choreoathetosis, Neutro... ORPHA:289916
Ménétrier Disease
Gastrointestinal hemorrhage, Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Oligomenorrhea, Impotence, Hypotension ORPHA:91354
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Coombs-positive hemolytic anemia, Ele... OMIM:614034
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension, Hypoalbuminemia ORPHA:54370
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Increased circulating renin level, Hyponatremia, Hyperaldosteronism, Hyperkalemia OMIM:177735
Gaisböck Syndrome
Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Hyperproteinemia,... ORPHA:90041
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Abnormality of the t... OMIM:611926
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... OMIM:619924
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Hepatic steatosis, Hepatomegaly OMIM:615238
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Lymphopenia, Reduced circulating transferrin concentration, Secondary hypera... ORPHA:90363
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
S-Adenosylhomocysteine Hydrolase Deficiency
Hepatocellular carcinoma, Abnormal circulating methionine concentration, Elevated circulating cre... ORPHA:88618
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Hypotension, Increased circulating renin level OMIM:203400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Hepatomegaly, Aminoaciduria OMIM:604273
Trimethylaminuria
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia OMIM:602079
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
H Syndrome
Amenorrhea, Histiocytosis, Hepatosplenomegaly, Enlarged kidney, Chronic rhinitis, Abnormal cardio... ORPHA:168569
Mpi-Cdg
Decreased liver function, Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Portal hypertension, G... ORPHA:79319
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... OMIM:616959
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Pneumonia, T lymphocytopenia OMIM:618806
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic hepatitis d... ORPHA:572
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Pancreatitis, Leukocytosis, Pleural empyema, Brain abscess, Myocarditis, Hemolytic ... ORPHA:544482
Posttransplant Acute Limbic Encephalitis
Ataxia, Dystonia, Hyponatremia ORPHA:163921
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated hepatic transaminase, Keratoconus, Hypoalbuminemia, Decreased circulating cop... OMIM:242150
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Congenital Generalized Lipodystrophy
Amenorrhea, Hepatomegaly, Cirrhosis, Increased C-peptide level, Oligomenorrhea, Hypertriglyceride... ORPHA:528
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:614727
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Di... ORPHA:89842
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute le... ORPHA:231401
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Hepatic fibrosis, Hypoalbuminemia, Lymphan... OMIM:602579
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hepatic steatosis ORPHA:79085
Bleeding Disorder, Platelet-Type, 19
Anemia, Epistaxis, Menorrhagia, Macrothrombocytopenia OMIM:616176
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Werner Syndrome
Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Hypertrig... OMIM:277700
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Abnormality of thrombocytes, Jaundice ORPHA:172
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Hypotension OMIM:264350
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Iris hypopigmentation,... ORPHA:79477
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Lymphopenia, Pulmonary insufficiency, B lymphocytopenia, Absence of lymph node germina... ORPHA:277
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Vas... OMIM:619381
Vitamin B12-Responsive Methylmalonic Acidemia
Respiratory insufficiency, Anemia, Hepatomegaly, Hyperammonemia ORPHA:28
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Peritonitis, Pulmonary embolism, Hypertriglyceridemia, ... ORPHA:567548
Mcleod Syndrome
Impaired vibration sensation at ankles, Hepatomegaly, Splenomegaly, Elevated circulating creatine... OMIM:300842
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... OMIM:619418
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hyperlipoproteinemia, Type I
Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomicron concentra... OMIM:238600
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Head trem... ORPHA:64753
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222