Gene Summary

Name:
nuclear receptor subfamily 1, group H, member 3
Synonyms:
LXR alpha,  Unr1

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
increased circulating alanine transaminase level Nr1h3tm1.1(KOMP)Vlcg HOM Early adult 3.39×10-14
abnormal kidney morphology Nr1h3tm1.1(KOMP)Vlcg HOM Early adult 0.00

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.77% (4 of 517)
aorta 0.19% (1 of 522)
blood 0.0%
bone marrow 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cecum 3.37% (11 of 326)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
chest bone Unavailable
colon 10% (11 of 110)
diaphragm 0.0%
duodenum 1.87% (2 of 107)
epididymis 12.39% (14 of 113)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.2% (1 of 510)
hindlimb 0.0%
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
ileum 11.3% (13 of 115)
jejunum 3.81% (4 of 105)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.2% (1 of 512)
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
stomach pyloric region 0.0%
striatum 0.39% (2 of 510)
sublingual gland 0.0%
submandibular gland 0.85% (1 of 117)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
tongue 4.72% (5 of 106)
trachea 0.59% (3 of 510)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.48% (12 of 345)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

65 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

4 Images

X-ray

XRay Images Hind Leg and Hip

4 Images

X-ray

XRay Images Skull Lateral Orientation

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

Human diseases caused by Nr1h3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nr1h3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... ORPHA:2843
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hepatic steatosis, Abnormal circulating hormone concentration, Polycystic ovaries, H... ORPHA:280356
Glycogen Storage Disease Vi
Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomegaly, Elevated ... OMIM:232700
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Morbid Obesity And Spermatogenic Failure
Infertility, Hepatic steatosis, Congestive heart failure, Azoospermia, Hypercholesterolemia, Myoc... OMIM:615703
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Insulin-resistant diabetes m... ORPHA:79085
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Hyperinsulinemia, Hepatomegaly, Hypertension, Diabetes mel... ORPHA:79084
Congenital Generalized Lipodystrophy
Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Amenorrhea, Oligomen... ORPHA:528
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Primary amenorrhea, Polycystic ovaries, Hyperinsulinemia, Hyperuricemia, Insul... OMIM:604367
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Insulin-resistant diabetes m... ORPHA:435651
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Primary amenorrhea, Hyperinsulinemia, Decreased ser... ORPHA:66628
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated ... ORPHA:90793
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Primary amenorrhea, Hyperinsulinemia, Decreased ser... ORPHA:179494
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatome... ORPHA:435660
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypothyroidism, Erectile dysfunction, Abnormality of iron homeostasis, Diabetes mell... ORPHA:465508
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Preeclampsia
Elevated systolic blood pressure, Elevated circulating creatinine concentration, Polycystic ovari... ORPHA:275555
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Primary amenorrhea, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Sp... OMIM:612526
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Primary amenorrhea, Polycystic ovaries, Congestive heart failure, Dysmenorrhea... ORPHA:79083
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Irregular menstruation, Polycystic ovaries, Dysmenorrhea, Hypercholesterolemia... ORPHA:370
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Primary Lipodystrophy
Menometrorrhagia, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Congestive heart failure... ORPHA:90970
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Sudden cardiac death, Myocardial infarction, Hypertension, ... OMIM:610947
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Recurrent infections, Irregular menstruation, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea... ORPHA:264580
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Irregular menstruation, Testicular adrenal rest tumor, Hypertension, Decreased circu... ORPHA:90795
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Decreased ... OMIM:616828
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopat... OMIM:610717
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Arrhythmia, Osteoarthritis, Elev... OMIM:606069
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, H... OMIM:605814
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Congestive heart failure, Hypertrophic cardi... ORPHA:2348
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Lipodystrophy, Partial, Acquired, Susceptibility To
Recurrent infections, Polycystic ovaries, Abnormal circulating lipid concentration, Diabetes mell... OMIM:608709
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Skin rash, Hyperinsulinemia, Osteoarthritis, Enlarged ovaries, Diabetic ketoac... ORPHA:2298
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Adrenocorticotropic hormone deficiency, Ovarian cyst, Oligosperm... ORPHA:91348
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Irregular menstruation, Hepa... OMIM:615238
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Galactokinase Deficiency
Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Incr... ORPHA:79237
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Congestive hear... ORPHA:139507
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent infections, Irregular menstruation, Polycystic ovaries, Dysmenorrhea, Hypercholesterole... ORPHA:79240
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Hyperinsulinemia, Abnormal circulating... ORPHA:79086
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Aromatase Deficiency
Hepatic steatosis, Primary amenorrhea, Hyperlipidemia, Cryptorchidism, Ambiguous genitalia, femal... ORPHA:91
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Decreased serum testosterone concentration, Splenomegaly, Hepatomegaly, Rec... OMIM:201100
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Adenohypophysitis
Gonadotropin deficiency, Orthostatic hypotension, Abnormal size of pituitary gland, Decreased fem... ORPHA:95512
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Recurrent infections, Hypothyroidism, Hypokalemia, Increased C-peptide lev... ORPHA:769
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Decreased serum testosterone concentration, Absence of secondary sex characterist... ORPHA:163976
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Panhypophysitis
Orthostatic hypotension, Abnormality of the posterior pituitary, Chronic lymphocytic meningitis, ... ORPHA:95513
49,Xxxyy Syndrome
Primary gonadal insufficiency, Recurrent upper respiratory tract infections, Abnormality of the t... ORPHA:261534
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Hypogonadotropic hypogonadism, Decreased fertility ORPHA:1643
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Ataxia-Telangiectasia
Mucosal telangiectasiae, Polycystic ovaries, Telangiectasia of the skin, Recurrent respiratory in... ORPHA:100
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Mccune-Albright Syndrome
Irregular menstruation, Cholestasis, Abnormality of the thyroid gland, Increased circulating prol... ORPHA:562
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypercholesterolemia, Hypoplasia of penis, Diabetes mellitus, Type II diabete... ORPHA:181393
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Polycystic ovaries, Hyperinsulinemia, Cryptorchidism, Secondary amenorrhea, Type II diabetes mell... ORPHA:3085
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Hypercholesterolemia, Hyperinsulinemia... OMIM:151660
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Polycystic ovaries, Congestive heart failure, Dysmenorrhea, Abnormal atriovent... ORPHA:280365
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Recurrent viral infections, Delayed puberty, Micropenis, Decreased serum testo... ORPHA:2959
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Irregular menstruation, Pulmonary venous hypertension, Hypertension, Pancreatitis... ORPHA:79259
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Absence of secondary sex characterist... ORPHA:163971
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Acne, Absence o... ORPHA:785
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Elevated hep... OMIM:214900
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Increased circulating gonadotropin le... OMIM:300869
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertension, Hypertriglyceridemia, Oligo... OMIM:613877
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Azoospermia, Non-obstruct... ORPHA:432
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619761
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Cystic Echinococcosis
Renal cyst, Abnormality of the testis size, Abnormality of the pancreas, Unusual infection, Bilia... ORPHA:400
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Decreased HDL cholesterol concentration, Adrenal calcification, P... OMIM:278000
Polyembryoma
Elevated alpha-fetoprotein, Irregular menstruation, Increased serum testosterone level, Abdominal... ORPHA:180229
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepa... OMIM:616278
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... OMIM:619386
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Infertility, Increased circulating ferriti... OMIM:602390
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Temple Syndrome
Recurrent otitis media, Hypercholesterolemia, Cryptorchidism, Hypertriglyceridemia, Maturity-onse... OMIM:616222
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Congestive heart failure, Splenomegaly, Elevated tr... OMIM:613313
49,Xyyyy Syndrome
Primary gonadal insufficiency, Recurrent upper respiratory tract infections, Abnormality of the t... ORPHA:99330
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Donohue Syndrome
Recurrent infections, Cholestasis, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Long peni... OMIM:246200
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Hyperi... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Hyperi... OMIM:608594
Leprechaunism
Hypokalemia, Enlarged kidney, Central hypothyroidism, Increased circulating renin level, Hyperins... ORPHA:508
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Insulin-resistant diabetes mellitus, Secondary amenorrhea, Elevated hepatic t... OMIM:268020
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice OMIM:237800
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Polycystic ovaries, Hyperinsulinemia, Abnormality ... ORPHA:1227
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Cryptorchidism, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceride... OMIM:615381
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal T-wave, Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Dela... ORPHA:3464
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Alstrom Syndrome
Hypothyroidism, Irregular menstruation, Diabetes insipidus, Hypertension, Otitis media, Decreased... OMIM:203800
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Meningioma
Neoplasm of the anterior pituitary, Hypogonadotropic hypogonadism, Decreased circulating follicle... ORPHA:2495
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hepatocellular carcinom... ORPHA:247585
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Polycystic ovaries, Abnormal penis morphology, Goiter, Abnormal calcium-p... ORPHA:457059
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Primary adrenal insufficiency, Hepatomegaly, Hypogonadism OMIM:617872
Analbuminemia
Elevated circulating transferrin concentration, Patent ductus arteriosus, Hypercholesterolemia, H... OMIM:616000
Galactose Mutarotase Deficiency
Hypergalactosemia, Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent meningococcal diseas... OMIM:614372
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Congestive heart ... OMIM:619048
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hypogonadotropic hypogonadism, Hyperlipidemia, Micropenis, Decreased serum testo... OMIM:241080
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... OMIM:619755
Distal Myopathy, Tateyama Type
Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Persistent patent ductus venosus,... OMIM:601466
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Hypovolemia, Increased serum testosterone level, Ovarian cyst, Capillar... ORPHA:64739
Galactosemia Iii
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Congenital Disorder Of Glycosylation, Type Iir
Recurrent infections, Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevat... OMIM:301045
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:226307
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatomegaly OMIM:615895
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:243300
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-r... ORPHA:90301
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Reduced systolic function, Elevated circulating alanin... OMIM:618805
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, Abnorm... ORPHA:293978
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Primary amenorrhea, Delayed pu... ORPHA:2232
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
Thymic Aplasia
Hypothyroidism, Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Opp... ORPHA:83471
Dysbetalipoproteinemia
Acute pancreatitis, Hypothyroidism, Hepatic steatosis, Hypercholesterolemia, Hepatomegaly, Xanthe... ORPHA:412
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gallbladder, Biliary tract neoplasm, Enlarged pol... ORPHA:2869
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Arrhythmia, Hepatomegaly, Elevated circulating creat... OMIM:255120
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Abnormal umbilical stump bleeding, Bruising susceptibility, Splenic rup... ORPHA:335
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Recurrent otitis media, Precocious puberty, Hypercholestero... ORPHA:254531
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Elevated hepatic transami... OMIM:619013
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
45,X/46,Xy Mixed Gonadal Dysgenesis
Recurrent otitis media, Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bil... ORPHA:1772
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Hyperinsulinemia, Hepatomegaly, Hypertension, Hypertriglyceridemia, Cirrhosis ORPHA:363400
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased total bilirubin, Ascites ORPHA:890
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatic necrosis, Hepatomegaly, Hepatic fibrosis ORPHA:33402
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Frequent Giardia lamblia infestation, Rec... OMIM:300310
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... OMIM:603471
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Bruising susceptibility, Irregular menstruation, Hyperlipidemia, Hepatic steatosis, Macronodular ... ORPHA:189427
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Cog4-Cdg
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hypercholesterolemia, Fatal liv... ORPHA:263501
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased to... OMIM:618528
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Cardiomyopathy, Elevated circulating acylcarnitine concentration ORPHA:26792
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Amenorrhea, Abnormality of the ovary, Menorrhagia, Acne, Abnormality of the u... ORPHA:2795
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Primary Pigmented Nodular Adrenocortical Disease
Bruising susceptibility, Irregular menstruation, Hyperlipidemia, Hepatic steatosis, Pigmented mic... ORPHA:189439
Laron Syndrome
Hypohidrosis, Hypercholesterolemia, Osteoarthritis, Hypoplasia of penis, Delayed puberty, Abnorma... ORPHA:633
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypermethioninemia, Decreased liver function, Pulmonic stenosis, ... OMIM:614300
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Cardiomegaly, Arrhyt... OMIM:235200
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin ORPHA:2924
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, Hepatomegaly, Congestive heart fai... OMIM:618234
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hypercholesterolemia, Abnormality of the thyroid gland, Osteoarthritis, Acne, Hyp... ORPHA:77296
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Delayed puberty, Infectious encephalitis, Recurrent... OMIM:307200
Ane Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Abnormal response to ACTH stimulati... ORPHA:157954
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Prolonged neonatal... OMIM:214950
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kin... ORPHA:369840
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Viral hepatitis, Severe infection, Cholangitis, Recurrent streptococcal i... ORPHA:183675
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Intrahepatic cholestasis OMIM:605479
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Reduced ejection fraction, Periportal fibrosis, Hypertrophic cardiomyopathy, S... OMIM:201475
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Recurrent otitis media, Elevated circulating alanine aminotransferase con... OMIM:614921
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Mitochondrial Myopathy, Infantile, Transient
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Hepatomegaly, Decre... OMIM:500009
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly ORPHA:1980
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased plasma carnit... OMIM:212140
Galactosemia
Hypergalactosemia, Decreased fertility, Hepatic failure, Primary amenorrhea, Cryptorchidism, Asci... ORPHA:352
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:232400
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decrea... OMIM:607616
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Cholestasis, Hyperbilirubinemia, Prolonged prothrombin time, Hyperam... ORPHA:247598
Dubin-Johnson Syndrome
Abnormality of the liver, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Biliary tract ab... ORPHA:234
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Renal cyst, Hepatic steatosis, Hypergonadotropic hypogonadism, Hepatomegaly, Card... OMIM:212065
Omenn Syndrome
Hypoproteinemia, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Splenomeg... OMIM:603554
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 47
Exocrine pancreatic insufficiency, Recurrent infections, Elevated circulating alanine aminotransf... OMIM:300972
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Splenomegaly, Hepato... OMIM:240500
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Abnormality of the liver, Mildly elevated creatine kinase, Hepatomegaly, Decreased plasma carnitine ORPHA:254864
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly OMIM:607624
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Jau... OMIM:616860
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Gastrointestinal hemorrhage, Abnormality o... ORPHA:543
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Increased hepatic glycogen content, Hepatomegaly, Portal fibrosis, Elevated hepat... ORPHA:369
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Increased C-peptide level, Hypertrophic cardiomyopathy... ORPHA:71212
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Pneumonia, Recurrent bacterial infections, Splenomeg... OMIM:607594
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepat... OMIM:251880
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Pneumonia, Hyperkalemia, Decreased circulating cortisol level, Abnormality of femal... ORPHA:90790
Cholestasis-Lymphedema Syndrome
Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormal... ORPHA:1414
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sinusitis, Sclerosing cholangitis, Recurrent viral in... ORPHA:572
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Periportal fibr... ORPHA:101330
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly OMIM:615234
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Recurrent infections, Recurrent skin infections, Er... OMIM:300635
Generalized Glucocorticoid Resistance Syndrome
Infertility, Hypokalemia, Adrenal hyperplasia, Oligomenorrhea, Increased urinary cortisol level, ... ORPHA:786
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Hypokalemia, Adrenogenital syndrome, Hypopla... OMIM:202010
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Arrhythmia, Elevated circul... ORPHA:228305
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinem... OMIM:235555
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Recurrent otitis media, Hypercholesterolemia, Cryptorchidism, Precocious puberty, Maturity-onset ... ORPHA:96184
Postinfectious Vasculitis
Viral hepatitis, Gastrointestinal inflammation, Severe cytomegalovirus infection, Invasive fungal... ORPHA:48435
Lipodystrophy, Congenital Generalized, Type 4
Recurrent infections, Hepatic steatosis, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Elevated c... OMIM:613327
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyce... OMIM:603552
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Elevated circulating creatine kina... OMIM:600649
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Hepatic failure, Hepatic steatosis, Cholestasis, Conjugated hyperbilirubinemia, Abnor... ORPHA:79303
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Congestive heart failure, Hypopituitarism, Cerebral hemorrhage, ST segment depres... ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:614582
Wilson Disease
Bruising susceptibility, Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acut... ORPHA:905
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia OMIM:619437
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Aspiration pneumonia, Petechiae, Hyponatremia, Patent ... OMIM:617053
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly OMIM:610539
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Gastrointestinal hemorrhag... ORPHA:2137
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Ovarian carcinoma, Atrial fibrillation, Impotence, Male hy... ORPHA:273
Immunodeficiency, Common Variable, 6
Enlarged kidney, Recurrent bacterial infections, Glomerulonephritis, Hepatomegaly, Recurrent resp... OMIM:613496
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Decreased plasma total carnitine, Arrhythmia, Decreased liver function, Hepato... ORPHA:42
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity OMIM:145295
Infantile Systemic Hyalinosis
Polycystic ovaries, Recurrent bacterial infections, Telangiectasia of the skin, Aplasia/Hypoplasi... ORPHA:2176
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice OMIM:614876
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Abnormality of reproductive system physiolog... ORPHA:1501
Aromatase Deficiency
Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism, Ovarian cyst OMIM:613546
Agammaglobulinemia 3, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Recurre... OMIM:613501
Cowden Syndrome 1
Recurrent infections, Hypothyroidism, Varicocele, Hyperthyroidism, Ovarian carcinoma, Ovarian cys... OMIM:158350
Familial Chylomicronemia Syndrome
Acute pancreatitis, Increased circulating chylomicron concentration, Hyperlipidemia, Recurrent pa... ORPHA:444490
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Propionic Acidemia
Hepatomegaly, Hyperammonemia ORPHA:35
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Acute pancreatitis, Portal hypertension, Hepatic steatosis, Hepatosplenomegaly, L... OMIM:619487
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatosplenomegaly, Recurrent skin infections, Recurrent bacterial infections, Splenom... OMIM:612840
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
Opitz Gbbb Syndrome
Patent ductus arteriosus, Cryptorchidism, Shawl scrotum, Enlarged ovaries, Thyroglossal cyst, Bif... ORPHA:2745
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... ORPHA:1359
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Hyperthyroidism, Elevated circ... ORPHA:249
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... OMIM:615947
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Arrh... ORPHA:228308
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hy... OMIM:212138
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Hepatomegaly, Jaundice ORPHA:60
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Adrenomyodystrophy
Pituitary corticotropic cell adenoma, Primary adrenal insufficiency, Hepatic steatosis OMIM:300270
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Pulmonary embolism, Peritonitis, ... ORPHA:567548
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Alg6-Cdg
Abnormality of the liver, Puberty and gonadal disorders, Jaundice, Increased circulating androgen... ORPHA:79320
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Intermittent... OMIM:601847
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Ovarian cyst, Intestinal bleeding, ... OMIM:175200
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Whim Syndrome 1
Recurrent upper respiratory tract infections, Abnormal morphology of female internal genitalia, A... OMIM:193670
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration, Cholestasis ORPHA:53693
Lysinuric Protein Intolerance
Hepatic failure, Membranous nephropathy, Pancreatitis, Decreased response to growth hormone stimu... ORPHA:470
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Splenomegaly, Elevated circulating sitosterol con... OMIM:210250
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Luscan-Lumish Syndrome
Recurrent otitis media, Irregular menstruation, Polycystic ovaries OMIM:616831
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Increased serum testost... ORPHA:247768
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Splenome... ORPHA:567983
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Chroni... OMIM:209920
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Miscarriage, Low pulse pressure, Hypoalbum... ORPHA:86816
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Hepatomegaly OMIM:615704
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Recurrent infections, Hepatic failure, Decreased serum zinc, Hepatic steatosis, Cholestasis, Hepa... ORPHA:541423
Selective Igm Deficiency
Severe infection, Hashimoto thyroiditis, Rheumatoid arthritis, Recurrent urinary tract infections... ORPHA:331235
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Breas... ORPHA:3044
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Cowden Syndrome 6
Hypothyroidism, Varicocele, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele testis,... OMIM:615109
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele testis, Thyroid ade... OMIM:615108
Immunodeficiency 104
Splenomegaly, Hepatomegaly OMIM:608971
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Galactosemia I
Hypergalactosemia, Decreased liver function, Hepatomegaly, Increased level of galactitol in plasm... OMIM:230400
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Congestive heart failure, Cryptorchidis... OMIM:610198
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased liver functio... ORPHA:70472
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Prolonged neonatal jaundic... OMIM:256810
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... OMIM:618892
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Xp22.13P22.2 Duplication Syndrome
Recurrent upper respiratory tract infections, Macroorchidism, Polycystic ovaries ORPHA:284180
Lysosomal Acid Lipase Deficiency
Primary adrenal insufficiency, Hepatic failure, Fatal liver failure in infancy, Ascites, Hyperspl... ORPHA:275761
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Pigmented Nodular Adrenocortical Disease, Primary, 1
Bruising susceptibility, Decreased circulating dehydroepiandrosterone concentration, Increased se... OMIM:610489
Testicular Agenesis
Hypoplasia of the uterus, Absent testis, Micropenis, Decreased serum testosterone concentration, ... ORPHA:325124
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Recurrent infections, Hyponatremia, Decreased circulating dehydroepiandros... ORPHA:361
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Recurrent bacterial infections, Hepatomegaly, Hyperuricemia, Xan... OMIM:232220
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616719
19P13.12 Microdeletion Syndrome
Hypothyroidism, Hepatic steatosis, Hyperlipidemia, Aortic regurgitation, Arrhythmia, Cryptorchidi... ORPHA:254346
Ddost-Cdg
Hepatic steatosis, Primary hypothyroidism, Elevated hepatic transaminase, Recurrent ear infections ORPHA:300536
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Congestive heart failure, Cerebellar hemorrhage, Eleva... ORPHA:99901
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Pneumonia, Severe recurrent varicella, Recurrent bacterial... ORPHA:276
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosi... OMIM:617253
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly, Ascites ORPHA:100025
Digeorge Syndrome
Cholelithiasis, Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Hypothyroidism... OMIM:188400
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Vasculitis in the skin, Lymphadenitis, Pneumonia, Disseminated nontuberculous mycobacterial infec... ORPHA:319552
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Recurrent viral infections, R... OMIM:613179
Cog7-Cdg