Gene: Tysnd1 MGI:1919017

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
trypsin domain containing 1
Synonyms:
1300019N10Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tysnd1 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 Tysnd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Morbid Obesity And Spermatogenic Failure
Infertility, Hypercholesterolemia, Azoospermia, Oligospermia, Hepatic steatosis, Hypertriglycerid... OMIM:615703
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sperm morpholog... ORPHA:399808
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Gait disturbance, Elevated hepatic transaminase OMIM:618400
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Infertility, Cirrhosis, Lethargy, Azoospermia, Amen... OMIM:602390
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia, Oligomenorrhea OMIM:613877
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis, Hepatomegaly, Hypertriglyce... OMIM:610717
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Hypertri... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis, Hypertrigly... ORPHA:280356
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Young Syndrome
Abnormality of the pancreas, Decreased fertility, Obstructive azoospermia ORPHA:3471
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Azoospermia, Hepatomegaly, Splenomegaly, Hypogonadism OMIM:615234
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... OMIM:613313
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Truncal ataxia, Abnormal sperm head morphology, Difficulty w... ORPHA:320391
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase OMIM:614582
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Infertility, Degenerative liver disease OMIM:268040
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Truncal ataxia, Elevated hepatic transaminase... ORPHA:369840
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hepatomegaly, Hypertriglycer... OMIM:232700
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic steatosis, Hypogonadism, Hepatic failure OMIM:617872
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine amino... OMIM:619386
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Hepatic steatosis, Abnormal circulating lipid... OMIM:615980
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly, Elevated ... OMIM:255120
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Hyperl... ORPHA:79085
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic steatosis, Dystonia, Lethargy ORPHA:26792
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Abnormal labia majora morpho... ORPHA:435660
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Elevated hepatic transaminase, Hepatic steatosis... ORPHA:247585
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Cardiome... OMIM:600649
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Pancre... ORPHA:435651
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Oligomenorrhea, Hepatic steatosis, Hyperuricemia, Primary amenorrhea, Polycystic ovari... OMIM:604367
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Hyp... OMIM:618805
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Elevated hepatic transamina... OMIM:235200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hepatomegaly, Hypertriglyceridemia, Hyperactivity OMIM:615924
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Retinitis Pigmentosa 59
Hepatomegaly, Cryptorchidism, Micropenis, Elevated hepatic transaminase OMIM:613861
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Oligomenorrhea, Irregular menstru... ORPHA:370
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Oligomenorrhea, Amenorrhea, Hepatic steatosis, Polycystic ovarie... ORPHA:528
Galactosemia
Cryptorchidism, Cirrhosis, Dystonia, Lethargy, Elevated hepatic transaminase, Oligomenorrhea, Gai... ORPHA:352
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Rft1-Cdg
Hepatomegaly, Ataxia ORPHA:244310
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty, Attention deficit... ORPHA:3000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Ab... OMIM:618528
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Decreased... OMIM:212140
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase OMIM:615895
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceride... OMIM:615381
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Gait ataxia, Hepatic steatosis, Ataxia, Hepatomegaly, Hypertriglyceridemia, Limb dysto... ORPHA:363400
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Ata... ORPHA:42
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Hypercholesterolemia, D... OMIM:278000
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Lethargy, Hepatocellular necrosis, Hepatic steatosis, Periportal fibr... OMIM:201475
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Oligomenorrhea, Irregular menstru... ORPHA:264580
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Elevated hepatic transaminase, Di... ORPHA:905
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Oligomenorrhea, Hepatic steatosis, Hyperuricemia, Primary amenorrhea, Polycystic ovari... ORPHA:79083
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Dystonia, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Decreased pla... ORPHA:228305
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decreased HDL cholesterol concentration, Increa... OMIM:607616
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hypergonadotropic hypogonadism, Incr... OMIM:230400
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Dystonia, Lethargy, Ataxia OMIM:618224
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Dystonia, Lethargy, Elevated hepatic transaminase... ORPHA:79239
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Secondary amenorrhea, ... ORPHA:2348
Galactosemia Iii
Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly OMIM:230350
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Portal hypertension, Hyperb... OMIM:616278
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:201450
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Oligospermia, Oligomenorrhea, Ab... ORPHA:52901
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Elevated circulating creatine kina... OMIM:232400
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hypoalbuminemia, Hepatosp... OMIM:619013
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Dystonia, Splenomegaly ORPHA:139406
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Hepatic steatosis, Primary amenorrhea, Female inf... ORPHA:91
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Menometrorrhagia, Polycystic ovaries, Pancreatitis, Splenomegaly, H... ORPHA:90970
Multiple Symmetric Lipomatosis
Hepatomegaly, Gait disturbance ORPHA:2398
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Increased serum pyruvate, Decreased plasma carnitine, Elevated circulating creatine... OMIM:500009
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Macrovesicular hepatic steatosis, Bradykinesia, Cholestasis, Hepatomegaly OMIM:614924
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Splenomegaly OMIM:608540
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites ORPHA:890
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Hypergalactosemia, Cholestasis ORPHA:570422
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperlipidemia, Hepatomegaly,... ORPHA:369
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Mildly elevated creatine kinase, Decreased plasma carnitine, Abnormality of the liver ORPHA:254864
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Infertility, Cirrhosis, Lethargy, Abnormality of ir... ORPHA:465508
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Dystonia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicu... OMIM:256810
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Cryptorchidism, Ataxia, Hepatomegaly, Hypospadias, Hyperammonemia OMIM:604273
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splen... OMIM:603552
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Progressive cerebellar ataxia, Dystonia ORPHA:67046
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Dystonia, Elevated hepatic transaminase, Bradyk... OMIM:613280
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated circulating cr... OMIM:212138
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia, Lethargy ORPHA:28
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat... OMIM:619232
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase OMIM:614727
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Lethargy, Elevated hepatic transaminase, Abnormal circulating acetylc... ORPHA:71212
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Ataxia, Hepatomegaly, Splenomegaly, Decreased testicular size, Hypogonadism OMIM:201100
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Galactokinase Deficiency
Hypercholesterolemia, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Hy... ORPHA:79237
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:615704
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Conjugate... OMIM:616860
Developmental And Epileptic Encephalopathy 36
Hepatomegaly OMIM:300884
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hepatitis, Elevated c... OMIM:614921
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis, Waddling gait ORPHA:52430
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Beta-Thalassemia
Abnormality of iron homeostasis, Cholelithiasis, Hepatomegaly, Hepatitis, Splenomegaly, Hypogonad... ORPHA:848
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Elevated hepatic transaminase, Ataxia, Hepatomegaly, Decreased liver function OMIM:246900
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly ORPHA:796
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated alpha-fetoprotein, Hepatomegaly ORPHA:33402
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Ataxia, Hypocho... OMIM:212065
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Lethargy, Elevated hepatic transaminase, Elevated plasma branched cha... ORPHA:2394
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Increased C-peptide level, Decrease... ORPHA:276556
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Infantile Liver Failure Syndrome 1
Hepatomegaly, Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase OMIM:615438
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Alstrom Syndrome
Elevated hepatic transaminase, Chronic active hepatitis, Hypergonadotropic hypogonadism, Irregula... OMIM:203800
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepatomegaly, Int... OMIM:243300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Increased C-peptide level, Focal pa... ORPHA:276575
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Sple... OMIM:300635
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated... OMIM:617713
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Microvesicular hepatic steatosis, Hypospadias, Decreased testicular size, Nonprog... OMIM:610198
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613673
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Ascites, Hypercalcemia, Abnormal vagina morphology ORPHA:2123
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Macrovesicular hepatic ... ORPHA:298
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolin... OMIM:619064
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly OMIM:618495
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Abnormal circulating lipid concentration, Acute pancreatitis, Hepat... ORPHA:79086
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic steatosis, Hepatic failure, Low plasma citrulline OMIM:261680
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Difficulty walking, Elevated circulating creatine kinase concentration OMIM:251900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Splenomegaly OMIM:608971
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Hepatic failure OMIM:602579
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Clit... OMIM:269700
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Biliary tract abnormality, Hepatomegaly, Jaundice, Abnormality of ... ORPHA:234
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:99901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Dystonia, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis... OMIM:615356
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile ... OMIM:613027
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Elevated hepatic transaminase, Hepatic steato... OMIM:615486
Propionic Acidemia
Hepatomegaly, Hyperammonemia ORPHA:35
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Ataxia OMIM:612015
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninemia OMIM:204000
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate OMIM:614741
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Clit... OMIM:608594
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Neonatal... OMIM:618892
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Cholestasis, Hepatomegaly, Decreased liver function, Hypoalbuminemia, Ascites OMIM:608104
Abetalipoproteinemia
Cirrhosis, Gait ataxia, Elevated hepatic transaminase, Hypotriglyceridemia, Hepatic steatosis, Hy... ORPHA:14
Cimdag Syndrome
Dystonia, Microvesicular hepatic steatosis, Cholelithiasis, Ataxia, Hepatomegaly, Hypogonadism OMIM:619273
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Cirrhosis, Biliary tract abnormality, Cholestasis ORPHA:79095
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia ORPHA:156
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hepatom... OMIM:235555
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Increased C-peptide level, Lethargy, Decreased circulating free fatty acid level ORPHA:324575
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hepatic steatosis, Hyperactivity, Hypospadias, Precocious puberty, Hyperlipidemia ORPHA:254346
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hepatic steatosis, Decreased plasma free carnitine, Hepatomegal... ORPHA:228308
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:289916
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Lethargy OMIM:210200
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Hypertrig... ORPHA:412
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Lethargy, Decreased plasma total carnitine, Elevated hepatic transamin... OMIM:608836
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Inability to walk, Ataxia, Hepatomegaly, Jaundice, Splenomegaly, Hyperkalemia OMIM:608885
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Increased C-peptide level, Lethargy, Diffuse pancreatic islet hyperplasia ORPHA:276580
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Hepatomegaly, Pancreatitis, Splenomegaly, Hyperammonemia ORPHA:79312
Gaucher Disease Type 2
Hepatomegaly, Dystonia, Splenomegaly ORPHA:77260
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Abnormal s... ORPHA:330015
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypomagnesemia, Male infertility, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Viral hepat... ORPHA:2137
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Secondary amenorrhea, ... ORPHA:280365
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function OMIM:614870
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Cholelithiasis, Hepatomegaly, Jaundice OMIM:605479
Lcat Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:650
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegal... OMIM:613327
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hypercholesterolemia, Hepatic steatosis, Acute pancreatitis, Hepatomega... OMIM:151660
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia OMIM:266150
47,Xyy Syndrome
Cryptorchidism, Azoospermia, Oligospermia, Macroorchidism, Hyperactivity, Hypospadias, Male infer... ORPHA:8
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis OMIM:608600
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Polysplenia, Immotile sperm, Abnormal axonemal ... OMIM:613807
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function, Lethargy OMIM:614922
Heme Oxygenase 1 Deficiency
Hepatomegaly OMIM:614034
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Pancreatic fibrosis, Ataxia, Hepatic fibrosis, Hepatomegaly, Steatorrhea, Dysm... OMIM:616263
Monosomy 13Q34
Infantile hypercalcemia, Hepatic steatosis, Metrorrhagia ORPHA:96168
Dilated Cardiomyopathy With Ataxia
Dystonia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Elevated circulating g... ORPHA:66634
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Decreased serum ... ORPHA:541423
Hodgkin Lymphoma
Hepatomegaly, Ataxia, Splenomegaly ORPHA:98293
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Micronodular cirrhosis, Increased total iron binding capacity, Dystonia, Trun... ORPHA:309854
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Hepatocellular carcinoma, Cholelithiasis, Hepatomegal... ORPHA:231222
Familial Chylomicronemia Syndrome
Hepatic steatosis, Recurrent pancreatitis, Acute pancreatitis, Jaundice, Increased circulating ch... ORPHA:444490
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism OMIM:613730
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated circulating glutaric acid concentration, Hepatomegaly, Jaundice, Hepa... OMIM:231680
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Aicardi-Goutieres Syndrome 4
Dystonia, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Ataxia, Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:27
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Hypospadias, Ne... ORPHA:2959
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Lethargy, Hyperornithinemia, Hepatomegaly, Decreased liver function, Hyperammonemia OMIM:238970
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Cholestasis OMIM:609060
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Ataxia, Hepatomegaly, Splenomegaly, Elevated circulating creatine ... OMIM:608799
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperuricemia, Hepatomegaly, Neonatal hyperbili... ORPHA:348
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre... ORPHA:98908
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Increased circulating corticosterone level, Male hypogonadism, Blind vagina, Ambigu... ORPHA:90793
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Ddost-Cdg
Hepatic steatosis, Elevated hepatic transaminase ORPHA:300536
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperglutaminemia, Lethargy, Ataxia, Hepatomegaly, Acute hyperammonemia, Hyperalaninemia, Hyperam... ORPHA:927
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Lethargy, Ataxia OMIM:614299
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Cryptorchidism, Elevated hepatic transaminase OMIM:618958
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:86893
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Ataxia OMIM:220111
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Ataxia, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:613489
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Cirrhosis, Small scrotum, Elevated hepatic transaminase, Hepatic steatosis, Cholest... OMIM:613658
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Absent vas deferens, Hyperuricemia, Jaundice, B... ORPHA:93111
Transketolase Deficiency
Hepatomegaly, Elevated circulating ribitol concentration, Secondary amenorrhea, Attention deficit... ORPHA:488618
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of th... ORPHA:400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Xanthelasma, Enlarged kidney, Irregular menstruation, Hepatocellular adenom... ORPHA:79259
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Hyperglycinemia, Hepatomegaly, Methylmalonic acidemia, Pancreatitis, Hyperammonemia OMIM:251000
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Splenomegaly, Elevated... OMIM:615559
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Argininemia
Micronodular cirrhosis, Cholestasis, Hepatomegaly, Hyperargininemia, Spastic gait, Hyperactivity,... OMIM:207800
Trichohepatoenteric Syndrome 2
Hepatomegaly, Decreased serum iron, Cirrhosis, Hepatitis OMIM:614602
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly ORPHA:79292
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Lethargy, Elevated hepatic transaminase, Hepatomegaly, Elevated creat... ORPHA:159
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Hypermethioninemia, Hyperhomocystinemia, Pancreatitis OMIM:236200
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hyperbil... OMIM:229600
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Dengue Fever
Hepatomegaly, Hypoproteinemia, Lethargy, Ascites ORPHA:99828
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Perlman Syndrome
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Hypoplasia of penis ORPHA:2849
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Ataxia, Hepatomegaly, Abnormal liver ... ORPHA:456312
Citrullinemia, Classic
Hypoargininemia, Cirrhosis, Hyperglutaminemia, Lethargy, Ataxia, Hepatomegaly, Hyperammonemia, Ep... OMIM:215700
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... ORPHA:329178
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Lethargy, Chronic hepatic failure, Toe walking, Cholestasis, Left ventricular hyper... ORPHA:746
Griscelli Syndrome
Abnormal circulating lipid concentration, Ataxia, Hepatomegaly, Jaundice, Hepatitis, Ascites, Spl... ORPHA:381
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Infantile Refsum Disease
Hepatomegaly, Elevated levels of phytanic acid, Ataxia ORPHA:772
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Hypoalbuminemia... ORPHA:367
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Cryptorchidism, Hyperammonemia, Hypospadias ORPHA:1194
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly ORPHA:85414
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Steatorrhea, Hypocholesterolemia OMIM:266510
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly OMIM:615285
Crimean-Congo Hemorrhagic Fever
Jaundice, Elevated hepatic transaminase, Hepatic steatosis ORPHA:99827
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Dystonia, Splenomegaly OMIM:615846
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Wolcott-Rallison Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Difficulty walking, Hyperbiliru... ORPHA:1667
Leishmaniasis
Hepatomegaly, Hypoalbuminemia, Elevated hepatic transaminase, Splenomegaly ORPHA:507
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Jaundice, Hepatitis, ... OMIM:194380
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice OMIM:614872
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites ORPHA:2198
Niemann-Pick Disease, Type C1
Fatal liver failure in infancy, Dystonia, Ataxia, Fetal ascites, Hepatomegaly, Prolonged neonatal... OMIM:257220
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Elevated hepatic transaminase, Hypophosphatemic rickets, Hepatomegaly, Abnormal circula... ORPHA:263455
Sialidosis Type 2
Hepatomegaly, Ascites, Ataxia, Splenomegaly ORPHA:87876
Cockayne Syndrome Type 2
Cryptorchidism, Male hypogonadism, Difficulty walking, Gait disturbance, Ataxia, Hepatomegaly ORPHA:90322
Adult-Onset Still Disease
Elevated hepatic transaminase, Abnormal circulating lipid concentration, Hepatomegaly, Hepatitis,... ORPHA:829
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly, Ascites ORPHA:858
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Enlarged kidney, Macrovesicular hepatic steatosis, Hepatomegaly, Hypoalbuminem... OMIM:617303
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Ataxia OMIM:613839
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:185000
Gaucher Disease, Type Iii
Hepatomegaly, Ataxia, Splenomegaly OMIM:231000
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Lethargy, Hypocalcemia OMIM:228100
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly ORPHA:100024
Combined Oxidative Phosphorylation Deficiency 27
Dystonia, Microvesicular hepatic steatosis OMIM:616672
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibrosis, ... ORPHA:30391
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Tangier Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Hepatic fibrosis, Hepatomegaly, Decreased liver function, Sple... OMIM:606003
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Hypocalcemia, Hypoprotein... ORPHA:1655
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly OMIM:614859
Fanconi-Bickel Syndrome
Hypophosphatemia, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concent... ORPHA:2088
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Jaundice, Priapism, Cardiomegaly, Splenomegaly OMIM:603903
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Elevate... OMIM:603553
Seckel Syndrome 10
Hepatic steatosis, Elevated hemoglobin A1c, Elevated circulating alanine aminotransferase concent... OMIM:617253
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hydrocele testis, Micropenis, Hypocholesterolemia OMIM:618810
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Fetal ascites, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Abnorma... OMIM:607625
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly ORPHA:66661
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Lethargy, Ataxia, Hepatic fibrosis, Hepatomegaly, Elevated ci... OMIM:207900
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Inability to walk, Elevated hepatic transaminase, Acute pancreatitis,... ORPHA:26791
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Gait disturbance, Ataxia, Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis ORPHA:436271
Klippel-Trénaunay Syndrome
Hepatomegaly, Abnormality of the menstrual cycle, Ascites ORPHA:90308
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:616689
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Elevated hepatic transaminase, Hyperuricemia, Ataxia, Acute pancreatitis, Hepatomegaly,... ORPHA:20
Babesiosis
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:108
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Hepatomegaly, Ascites... OMIM:235255
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly OMIM:603554
Hardikar Syndrome
Elevated hepatic transaminase, Hyperbilirubinemia, Hepatomegaly, Jaundice, Vaginal atresia, Chola... OMIM:612726
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma total carnitine, Decreased plasma free carnitine, Hepatomegaly, Hepatic calcific... ORPHA:157
Whipple Disease
Erectile dysfunction, Hyponatremia, Ataxia, Hepatomegaly, Splenomegaly ORPHA:3452
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Hepatomegaly, Ataxia, Cholestasis OMIM:266920
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Splenomegaly, Elevated circu... OMIM:614576
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Increased circulating very long-chain fatty acid concentration, He... OMIM:261515
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Elevated hepatic transaminase, Hepatomegaly, Jaundi... ORPHA:540
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Hyperammonemia OMIM:610678
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Hypertyrosinemia, Enlarged kidney, Hepatocellular carci... OMIM:276700
Propionic Acidemia
Dystonia, Lethargy, Hyperglycinemia, Hepatomegaly, Pancreatitis, Hyperammonemia OMIM:606054
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Elevated hepatic transaminase, Hepatomegaly, Jaundice, I... ORPHA:26793
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Conjugated hyperbilirubinemia... ORPHA:480520
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Elevated hepatic transaminase, Exocrine pancreatic insufficiency,... ORPHA:699
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Ataxia ORPHA:251009
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Ataxia, ... OMIM:203700
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Unsteady gait, Abnormal... ORPHA:17
Free Sialic Acid Storage Disease
Gait disturbance, Ataxia, Hepatomegaly, Ascites, Splenomegaly, Athetosis ORPHA:834
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Sandhoff Disease
Impotence, Ataxia, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly OMIM:268800
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hyperammonemia, Decreased plasma carnitine, Hyperuricemia OMIM:246450
Methylmalonic Aciduria, Cblb Type
Lethargy, Hyperglycinemia, Hepatomegaly, Methylmalonic acidemia, Hyperammonemia OMIM:251110
Lymphoproliferative Syndrome 1
Hepatomegaly, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... OMIM:613011
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly ORPHA:2584
Wolman Disease
Steatorrhea, Hepatomegaly, Ascites, Hepatic failure, Splenomegaly ORPHA:75233
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Elevated circulating long chain fatty acid concentration, Intrahepatic biliary dy... OMIM:214110
Typhoid
Hepatomegaly, Lethargy, Ataxia, Splenomegaly ORPHA:99745
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Abnormality of the peritoneum, Hepatomegaly, Ascites, Testicular neoplasm, Neop... ORPHA:83469
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Hypercholesterolemia, Xanthelasma, Microvesicular hepatic steatos... ORPHA:275761
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Jaundice, Splenomegaly OMIM:615631
Coach Syndrome 1
Cirrhosis, Dystonia, Elevated hepatic transaminase, Abnormal abdomen morphology, Ataxia, Hepatic ... OMIM:216360
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly OMIM:228000
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia... ORPHA:99429
Pseudo-Torch Syndrome 2
Lethargy, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Ascites OMIM:617397
Wilson Disease
Cirrhosis, Dystonia, Hepatocellular carcinoma, Hepatomegaly, Atypical or prolonged hepatitis, Hep... OMIM:277900
Pfapa Syndrome
Hepatomegaly, Splenomegaly ORPHA:42642
Glutaric Acidemia I
Hepatomegaly, Elevated circulating glutaric acid concentration, Dystonia OMIM:231670
Immunodeficiency, Common Variable, 6
Hepatomegaly, Enlarged kidney OMIM:613496
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Steatorrhea, Hepatomegaly, Jaundice, Splenomegaly OMIM:612714
Methylmalonic Aciduria, Cbla Type
Lethargy, Hyperglycinemia, Hepatomegaly, Methylmalonic acidemia, Hyperammonemia OMIM:251100
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Cockayne Syndrome Type 1
Cryptorchidism, Male hypogonadism, Increased blood urea nitrogen, Elevated hepatic transaminase, ... ORPHA:90321
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentration, Splenomegaly OMIM:232300
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Splenomegaly OMIM:252900
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Splenomegaly ORPHA:391
Neuraminidase Deficiency
Hepatomegaly, Splenomegaly, Ascites, Cardiomegaly, Dysmetria OMIM:256550
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:617388
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Ascites, Hypoalbuminemia OMIM:226300
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:615630
Oculoskeletodental Syndrome
Cryptorchidism, Hypocalcemia, Hepatomegaly, Hypercalcemia, Splenomegaly OMIM:618440
Microcephaly, Amish Type
Hepatomegaly OMIM:607196
Triploidy
Cryptorchidism, Ambiguous genitalia, Hepatomegaly, Abnormality of the pancreas, Abnormality of th... ORPHA:3376
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly OMIM:615085
Schnitzler Syndrome
Hepatomegaly, Splenomegaly ORPHA:37748
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Hyperactivity, Splenomegaly OMIM:252920
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia OMIM:615415
Primary Sclerosing Cholangitis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Acute hepatic failure, Chroni... ORPHA:171
Familial Mediterranean Fever
Peritonitis, Orchitis, Elevated circulating amyloid A, Hepatomegaly, Elevated circulating C-react... OMIM:249100
Polymyositis
Hepatomegaly, Gait disturbance, Elevated circulating creatine kinase concentration ORPHA:732
Hereditary Spherocytosis
Hyperbilirubinemia, Cholelithiasis, Ataxia, Hepatomegaly, Jaundice, Splenomegaly ORPHA:822
Al Amyloidosis
Autonomic erectile dysfunction, Hepatomegaly, Increased circulating NT-proBNP concentration, Hypo... ORPHA:85443
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Ataxia, Cholestasis, Cholangitis... OMIM:124000
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Splenomegaly OMIM:614470
Pleural Mesothelioma
Hepatomegaly ORPHA:50251
Niemann-Pick Disease, Type A
Inability to walk, Elevated circulating aspartate aminotransferase concentration, Elevated circul... OMIM:257200
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Micronodular cirrhosis, Dystonia, Microvesicular hepatic steatosis, Elevated h... ORPHA:404454
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Hepatic steatosis, Decreased testicular size, Micropenis, Hypoplasia of the ovary OMIM:619321
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated hepatic transaminase OMIM:613561
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Hepatomegaly, Ascites, Hepatic failure, Splenomegaly OMIM:259720
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Cystic Fibrosis
Cirrhosis, Exocrine pancreatic insufficiency, Biliary cirrhosis, Steatorrhea, Hepatomegaly, Pancr... OMIM:219700
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Lethargy, Chronic hepatic failure, Hyperuricemia, Hepatomegaly... ORPHA:469
Cinca Syndrome
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly ORPHA:1451
Trichohepatoenteric Syndrome 1
Cirrhosis, Abnormality of iron homeostasis, Hypermethioninemia, Cholestasis, Hepatic fibrosis, Ja... OMIM:222470
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase... OMIM:301056
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Gait disturbance ORPHA:2971
Biotinidase Deficiency
Lethargy, Ataxia, Hepatomegaly, Splenomegaly, Hyperammonemia OMIM:253260
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93476
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Hyperornithinemia, Elevated hepatic transaminase, Abnormal circulating citrulline conce... ORPHA:415
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly OMIM:240500
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Elevated hepatic transaminase ORPHA:445038
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly OMIM:618107
Lymphoproliferative Syndrome 2
Hepatomegaly, Hepatosplenomegaly, Ascites, Splenomegaly OMIM:615122
Congenital Rubella Syndrome
Hepatomegaly, Jaundice, Splenomegaly ORPHA:290
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly OMIM:230900
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly OMIM:607594
Distal Monosomy 17Q
Hepatomegaly ORPHA:1597
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Dystonia, Elevated circulating creatine kinase concentration, Ataxia OMIM:610505
Juvenile Sialidosis Type 2
Loss of ability to walk, Visceromegaly, Ataxia, Hepatomegaly, Dysmetria, Hepatosplenomegaly ORPHA:93399
Niemann-Pick Disease Type B
Cirrhosis, Abnormal circulating lipid concentration, Cholelithiasis, Neoplasm of the liver, Hepat... ORPHA:77293
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Elevated p... ORPHA:470
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly ORPHA:98848
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypouricemia OMIM:616026
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Splenomegaly, Clitoral h... OMIM:614866
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:611490
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Ascites OMIM:608776
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Ataxia, Hepatomegaly OMIM:243910
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal respiratory motile cilium morphology, Asplenia OMIM:244400
Pyruvate Carboxylase Deficiency