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 3.35×10-12
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 100% (2 of 2)
Brain N/A homozygote 100% (1 of 1)
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 0.0% (0 of 2)
Large intestine N/A homozygote 0.0% (0 of 1)
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 50% (1 of 2)
Small intestine N/A homozygote 100% (1 of 1)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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.

Adult LacZ

LacZ Images Section

65 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

4 Images

X-ray

XRay Images Hind Leg and Hip

4 Images

X-ray

XRay Images Forepaw

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, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... ORPHA:280356
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619874
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hyperlip... OMIM:232700
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Infertility, Azoospermia, Congestive heart failure, Hypertension, Hepa... OMIM:615703
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Membranoproliferative glomerulonephritis, Hepatic steat... OMIM:608709
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hypertension, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, Hepatom... ORPHA:79084
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Oligomenorrhea, Maternal d... OMIM:604367
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adiponec... ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Increased C-pep... ORPHA:528
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Primary amenorrhea, Hyperinsulinemia, Decre... ORPHA:66628
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... OMIM:619868
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adiponec... ORPHA:435651
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Primary amenorrhea, Hyperinsulinemia, Decre... ORPHA:179494
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:616030
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Abnormal labia majora morphology, Elevated circulating creatine kinase concentrat... ORPHA:435660
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... OMIM:616829
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Ch... ORPHA:465508
Preeclampsia
Elevated systolic blood pressure, Elevated hepatic transaminase, Hypertension, Type I diabetes me... ORPHA:275555
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pri... OMIM:612526
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Secondary amenorrhea, Inappr... OMIM:301033
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Cirrhosis, Splenomegaly, Hyperuricemia, Secondary amenorrhea, Oligomenorrhea,... ORPHA:79083
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:619175
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Hypercholesterolemia, Elevated circulating reverse T3 concentr... OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... OMIM:610717
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Oligomenorrhea, Elevat... ORPHA:370
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Primary Lipodystrophy
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Angina pectoris, Congestive heart failure, Hy... ORPHA:90970
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma OMIM:142330
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguo... ORPHA:90791
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Increased sarcoplasmic... ORPHA:264580
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... ORPHA:90795
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatic failure, Decreased circulating ceruloplasmin concentrati... OMIM:616828
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Secondary amenorrhea, Congestive heart failure, Hepatic steatosis, Hypertrophic car... ORPHA:2348
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... ORPHA:168563
Hemochromatosis, Type 4
Cirrhosis, Impotence, Elevated transferrin saturation, Hepatic steatosis, Diabetes mellitus, Incr... OMIM:606069
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... OMIM:614841
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Abnormal circulating lipid concentration, Hyperinsulinemic hypoglycemia, Abnor... ORPHA:2298
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Diabetes mellitus, Hypertension, Hypercholesterolemia OMIM:608320
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Abnormal internal genitalia, Primary amenorrhea, Aplasia of the uterus,... OMIM:273250
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... ORPHA:91348
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
African Iron Overload
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... ORPHA:139507
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... ORPHA:90796
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Increased C-peptide level, Diabetic ketoacidosis, Hypertension, Hepatic s... OMIM:615238
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Abnormal circulating lipid concentration, Hypertension, Hepatic stea... ORPHA:79086
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Cholesteryl Ester Storage Disease
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S... ORPHA:75234
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... ORPHA:52901
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Oligomenorrhea, Elevat... ORPHA:79240
Aromatase Deficiency
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... ORPHA:91
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Premature ovarian i... ORPHA:79237
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Apolipoprotein C-Ii Deficiency
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... OMIM:207750
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... OMIM:620010
Glycogen Storage Disease Ixa1
Hyperuricemia, Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceri... OMIM:306000
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, M... ORPHA:163976
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... ORPHA:769
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Hepatomegaly, Decreased serum testosterone concentration... OMIM:201100
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... OMIM:144250
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Decreased fertility ORPHA:1643
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Hypoplasia of penis, Diabetes mellit... ORPHA:181393
Panhypophysitis
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... ORPHA:95513
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Ataxia-Telangiectasia
Mucosal telangiectasiae, Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II di... ORPHA:100
49,Xxxyy Syndrome
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... ORPHA:261534
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Pigmented m... OMIM:610475
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol... ORPHA:3085
Mccune-Albright Syndrome
Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, Hepatocellular a... ORPHA:562
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase OMIM:618400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, ... ORPHA:79259
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Decreased testicular size, Male hypogonadism, Increased... ORPHA:163971
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Type II diabetes mellitus, Labial pseudohypertrophy, Hype... OMIM:151660
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Secondary amenorrhea, Ventricular arrhythmia, Supraventricular arrhythmia, Congesti... ORPHA:280365
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... OMIM:619662
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Increased ci... OMIM:300869
Polyembryoma
Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron... ORPHA:180229
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... OMIM:214900
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism... OMIM:619761
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... OMIM:617872
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hepatic steatosis, Insulin-resistant diabetes mellitus, Oligomenorrhea, Hypertrigly... OMIM:613877
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Invasive parasit... ORPHA:400
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Hypergonadotropic hypogonadism, Precocious puberty, Dilated cardiomyopathy ORPHA:2229
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... OMIM:202150
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Absence of secondary sex characteristics, Dec... ORPHA:432
Biliary Atresia, Extrahepatic
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... OMIM:210500
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Premature ovarian insufficiency, Neoplasm of the pancreas, Supraventri... ORPHA:2959
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi... OMIM:616278
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, Ad... OMIM:619386
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Hemochromatosis, Type 2A
Cirrhosis, Increased serum iron, Arthritis, Infertility, Azoospermia, Dilated cardiomyopathy, Con... OMIM:602390
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Elevated hepatic transaminase, Polycystic ovaries, Hypergonadotropic hypogo... OMIM:268020
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Decreased fertility in females, Cirrhosis, Hyperinsulinemia, Insulin-resista... OMIM:269700
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Increased serum iron, Hypogonadism, Secondary amenorrhea, Elevated t... OMIM:613313
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus ... OMIM:608594
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Enlarged kidney, Hypokalemia, Labia... ORPHA:508
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Delayed puberty, Polycystic ovaries,... OMIM:615363
Donohue Syndrome
Hepatic fibrosis, Precocious puberty, Hyperinsulinemia, Long penis, Cholestasis, Recurrent infect... OMIM:246200
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... OMIM:613953
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... ORPHA:226307
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:605911
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Hyperphosphatemia, Precocious puberty, Hyperthyroidism, Abnormal testis m... ORPHA:457059
Alstrom Syndrome
Hypothyroidism, Chronic active hepatitis, Elevated hepatic transaminase, Hepatic steatosis, Hepat... OMIM:203800
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response t... ORPHA:3464
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly OMIM:237800
Analbuminemia
Hypotension, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased ... OMIM:616000
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang... ORPHA:69663
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent Klebsiella inf... OMIM:614372
Citrullinemia Type Ii
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... ORPHA:247585
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Hepat... OMIM:615381
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... OMIM:605814
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... OMIM:619232
Galactose Mutarotase Deficiency
Decreased liver function, Hypergalactosemia, Cholestasis, Hepatomegaly ORPHA:570422
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Abnormal circulating follicle-stimulating hormone concentratio... OMIM:616950
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... OMIM:619048
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... OMIM:613986
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Hypovolemia, Enlarged polycystic ov... ORPHA:64739
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Persistent patent ductus venosus, Decreased... OMIM:601466
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Micronodular cirrhosis, ... OMIM:301045
Meningioma
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... ORPHA:2495
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries, Insulin-resistant diabetes mell... ORPHA:90301
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hypertension, Elevated circulating creatine kinase conc... OMIM:615980
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
Woodhouse-Sakati Syndrome
Abnormal T-wave, Elevated circulating thyroid-stimulating hormone concentration, Decreased testic... OMIM:241080
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Increased serum bile acid concentration, Hepatomegaly, Intrahepatic choles... OMIM:243300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreas... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreas... ORPHA:168558
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Decreased testicular size, Abnormal umbilical ... ORPHA:335
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... ORPHA:99429
Dysbetalipoproteinemia
Hypothyroidism, Angina pectoris, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Increa... ORPHA:412
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... ORPHA:33402
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Primary amenorrhea, Decreased serum estradiol, Aplasia of the ovar... ORPHA:2232
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the gallbladder, Biliary t... ORPHA:2869
Thymic Aplasia
Hypothyroidism, Hypocalcemic tetany, Opportunistic infection, Recurrent Staphylococcus aureus inf... ORPHA:83471
Cog4-Cdg
Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Recurrent upper respiratory tract i... ORPHA:263501
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Precocious puberty, Recurrent otitis media, Maturity-onset diabetes of the ... ORPHA:254531
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... OMIM:618805
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Bardet-Biedl Syndrome 19
Hepatic steatosis, External genital hypoplasia, Hypogonadism, Patent ductus arteriosus OMIM:615996
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... OMIM:619013
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... OMIM:255120
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites ORPHA:890
Galactosemia Iii
Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly OMIM:230350
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hypertension, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia ORPHA:363400
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... OMIM:603471
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Temple Syndrome
Precocious puberty, Decreased testicular size, Recurrent otitis media, Maturity-onset diabetes of... OMIM:616222
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... ORPHA:209902
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... OMIM:607765
Ane Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... ORPHA:157954
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hyperuricemia, Hypertension, Diabetes mellitus, Abnormality of the thyroid gland,... ORPHA:77296
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Hyperaldosteronism, Increased circulating cortisol level, Macronodular ad... ORPHA:189427
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... OMIM:618528
Laron Syndrome
Hypohidrosis, Hypoplasia of penis, Delayed puberty, Hypercholesterolemia, Abnormality of the endo... ORPHA:633
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... ORPHA:2795
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... ORPHA:247598
Mitochondrial Myopathy, Infantile, Transient
Decreased plasma carnitine, Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine... OMIM:500009
Isolated Polycystic Liver Disease
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly ORPHA:2924
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Increased circulating cortisol level, Type II diabetes mellitus, Decrease... ORPHA:189439
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated circulating acylcarnitine concentration, Cardiomyopathy ORPHA:26792
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... OMIM:201475
Hemochromatosis, Type 1
Cirrhosis, Telangiectasia, Increased serum iron, Impotence, Elevated hepatic transaminase, Hepato... OMIM:235200
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, f... ORPHA:90794
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Elevated circulating alanine aminotransfer... OMIM:614921
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function OMIM:617093
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... ORPHA:369
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Immunodeficiency 47
Hypercholesterolemia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentrati... OMIM:300972
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, De... OMIM:212140
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Bronchiectasis, Decreased circulating cortisol level, Recurrent sinusitis, Hyponatre... ORPHA:293978
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the liver, Hyperuricemia, Abnormality of the ovary, G... ORPHA:543
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... OMIM:232400
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia OMIM:605479
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, R... ORPHA:183675
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased plasma carnitine, Abnormality of the liver, Hepatomegaly, Mildly elevated creatine kinase ORPHA:254864
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly ORPHA:1980
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:240500
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Decreased response to growth hormone stimulation test, Enterovi... OMIM:307200
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:615158
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased circulating fer... OMIM:616860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circulating creatine kinase conce... OMIM:600649
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Testicular atrophy, Delayed puberty, Elevated circulatin... OMIM:305400
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly OMIM:607624
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hepatomegaly, H... OMIM:607616
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi... OMIM:238600
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Dubin-Johnson Syndrome
Abnormality of the liver, Jaundice, Biliary tract abnormality, Hepatomegaly, Conjugated hyperbili... ORPHA:234
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas... ORPHA:71212
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Recurrent bacterial skin infections, Periportal fib... ORPHA:101330
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depr... ORPHA:90065
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hepatomegaly OMIM:261750
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Neonatal sepsis, Jaundice, Decreased ci... ORPHA:90790
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... ORPHA:79303
Mirage Syndrome
Patent ductus arteriosus, Aspiration pneumonia, Petechiae, Shawl scrotum, Adrenal insufficiency, ... OMIM:617053
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... ORPHA:90674
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating acylcarnitine concentration, Decreased plasma free carnitin... ORPHA:228305
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Recurrent otitis media, Maturity-onset diabetes of the young, Cryptorchidism,... ORPHA:96184
Postinfectious Vasculitis
Severe Epstein Barr virus infection, Ischemic stroke, Recurrent Staphylococcus aureus infections,... ORPHA:48435
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Opitz Gbbb Syndrome
Patent ductus arteriosus, Recurrent aspiration pneumonia, Bicornuate uterus, Bifid scrotum, Shawl... ORPHA:2745
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steatorrhea, Intrah... OMIM:235555
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent fungal infections, Recurrent candida infections, Rhinitis, Recurrent Staphylococcus aur... ORPHA:572
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Diffuse hepatic steatosis, Elevated hepatic transaminase... OMIM:264470
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... OMIM:615962
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Splen... OMIM:603552
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Autoimmune Hepatitis
Increased total bilirubin, Spider hemangioma, Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosi... ORPHA:2137
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... OMIM:613812
Rotor Syndrome
Intermittent jaundice, Storage in hepatocytes, Jaundice ORPHA:3111
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Hypera... OMIM:614582
Steinert Myotonic Dystrophy
Impotence, Elevated hepatic transaminase, Secondary hyperparathyroidism, Ovarian carcinoma, Hyper... ORPHA:273
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Hepatocellular carcinoma, Oligospermia, Follicular ... ORPHA:1359
Wilson Disease
Cirrhosis, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Abnormality of the mens... ORPHA:905
Cowden Syndrome 1
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Recurrent infections,... OMIM:158350
Non-Functioning Pituitary Adenoma
Hypotension, Impotence, Adrenal insufficiency, Anterior hypopituitarism, Decreased female libido,... ORPHA:91349
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... ORPHA:42
Immunodeficiency, Common Variable, 1
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:607594
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... OMIM:613027
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... OMIM:613327
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly OMIM:610539
Immunodeficiency, Common Variable, 6
Enlarged kidney, Purpura, Glomerulonephritis, Recurrent bacterial infections, Hepatomegaly, Recur... OMIM:613496
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... OMIM:201750
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Propionic Acidemia
Hyperammonemia, Hepatomegaly ORPHA:35
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Elevated hepatic transaminase, Elevated circulating creatine kinase ... OMIM:212138
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Steatorrhea, Polycystic ovaries, Recurrent bacterial infections... ORPHA:2176
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Abnormal bleeding, Hepatosplenomegaly, Epistaxis, Recurrent bacterial infections, Hepa... OMIM:612840
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly OMIM:614876
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Whim Syndrome 1
Abnormality of female external genitalia, Bronchiectasis, Recurrent bacterial infections, Recurre... OMIM:193670
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Fish-Eye Disease
Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly ORPHA:79292
Adrenocortical Carcinoma
Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Increased circulating cortisol leve... ORPHA:1501
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomega... OMIM:618234
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hyperthyroidism, Increased circulating cortisol level, Thyroid car... ORPHA:249
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Abnormal circulating lipid concentration, Minimal change glomerulonephritis, ... ORPHA:567548
Distal Monosomy 10P
Polycystic ovaries, Hypoplasia of penis, Cryptorchidism ORPHA:1580
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Hepatic fibrosis, Elevated hepatic transaminase, Congestive heart failure, Dilated... OMIM:615895
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries, Recurrent otitis media OMIM:616831
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Hepatic failure, Elevated circulating acylcarnitine concentration, ... ORPHA:228308
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic fibrosis, Recurrent urinary tract infections, Chilblains, Elevated hepati... OMIM:619487
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Glycogen Storage Disease Ib
Splenomegaly, Hyperuricemia, Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carci... OMIM:232220
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem... OMIM:615947
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... OMIM:601847
46,Xx Sex Reversal 2
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, Perineal hypospadias, True hermaphroditism... OMIM:278850
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... ORPHA:247768
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian cyst, Thyroid... OMIM:615109
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... OMIM:615108
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem... OMIM:614300
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Hypertrophic cardiomyopathy, Cardiomyopathy OMIM:615119
Alg6-Cdg
Decreased LDL cholesterol concentration, Abnormality of the liver, Jaundice, Puberty and gonadal ... ORPHA:79320
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Alpha-1-Antitrypsin Deficiency
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly ORPHA:60
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hypercholest... ORPHA:470
Peutz-Jeghers Syndrome
Uterine neoplasm, Neoplasm of the pancreas, Biliary tract abnormality, Intestinal bleeding, Bile ... OMIM:175200
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Seckel Syndrome 10
Elevated circulating alanine aminotransferase concentration, Congestive heart failure, Elevated c... OMIM:617253
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Hepatic fibrosis, Premature ovarian insufficiency, Elevated hepatic transaminase,... OMIM:212065
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... ORPHA:567983
Lysosomal Acid Lipase Deficiency
Hypotension, Elevated hepatic transaminase, Primary adrenal insufficiency, Hepatosplenomegaly, Hy... ORPHA:275761
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Elevated circulating luteini... ORPHA:3044
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosplenomegaly, Hepat... ORPHA:444490
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Hyperalaninemia, Hyperprolinemia OMIM:615918
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... OMIM:610198
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hepatic steatosis, Hypertrophic cardiomyopathy, Abnormal reproductive s... ORPHA:70472
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... ORPHA:541423
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Bare Lymphocyte Syndrome, Type Ii
Infectious encephalitis, Recurrent urinary tract infections, Biliary tract abnormality, Cholangit... OMIM:209920
Immunodeficiency 84
Persistent EBV viremia, Recurrent bacterial infections, Splenomegaly, Perianal abscess OMIM:619437
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... OMIM:618641
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries, Recurrent upper respiratory tract infections ORPHA:284180
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Recurrent mycobacterial infections, Anhidrosis, Recurrent bacterial ... ORPHA:169090
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
19P13.12 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Hepatic steatosis, Aortic regurgitation, Hypospadias, Mitral ... ORPHA:254346
Omenn Syndrome
Hypoplasia of the thymus, Recurrent bacterial infections, Hypoproteinemia, Hepatomegaly, Erythrod... OMIM:603554
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... OMIM:617394
Immunodeficiency 110 With Lymphoproliferation
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Sple... OMIM:300635
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta... ORPHA:331235
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... OMIM:610489
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, De... ORPHA:99901
Ddost-Cdg
Hepatic steatosis, Elevated hepatic transaminase, Recurrent ear infections, Primary hypothyroidism ORPHA:300536
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Very long chain fatty a... ORPHA:98908
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatomegaly, Prolonge... OMIM:618892
Familial Glucocorticoid Deficiency
Hypotension, Leydig cell neoplasia, Precoc