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Gene: Kbtbd2 MGI:2384811

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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:
kelch repeat and BTB (POZ) domain containing 2
Synonyms:
Bklhd1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Kbtbd2 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 Kbtbd2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:79085
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insul... ORPHA:435660
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insul... ORPHA:435651
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hepatic fibrosis, Loss of subcutaneous adipose tissue in limbs, Insu... ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tiss... OMIM:612526
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Morbid Obesity And Spermatogenic Failure
Oligospermia, Decreased HDL cholesterol concentration, Infertility, Type II diabetes mellitus, Az... OMIM:615703
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas, Insulin resistance ORPHA:2398
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus OMIM:601410
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Oligomenorrhea, Maternal diabetes, Loss of subcutaneous ... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... ORPHA:79084
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... ORPHA:324575
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Failure to thrive, Decreas... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Failure to thrive, Decreas... ORPHA:71526
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Hepatomegaly, Decreased HDL cholesterol concentration, Dysmenorrhea, Increa... ORPHA:280365
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hepatic steatosi... OMIM:610717
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Insulin resistance, Fail... ORPHA:528
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:276580
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Failure to thriv... ORPHA:181393
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... OMIM:606069
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Primary amenorrhea, Delayed ... OMIM:616033
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyce... ORPHA:436182
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Intrauterine growth retardation, Ascites, Failure... OMIM:617156
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... ORPHA:79237
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Hepatomegaly, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Loss of subc... ORPHA:79083
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... ORPHA:276556
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Hypertriglyceri... OMIM:615381
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride... OMIM:614480
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Intrauterine growth retardation, Fai... OMIM:619048
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Loss of subcutaneous adipose tissue in limbs, I... ORPHA:2348
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated he... OMIM:306000
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Rft1-Cdg
Failure to thrive, Hepatomegaly, Arthrogryposis multiplex congenita, Short stature ORPHA:244310
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Mody
Pancreatic hypoplasia, Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... OMIM:602579
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age OMIM:618858
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Failure to thrive, Ketotic hypoglycemia, Elevated circulating ac... ORPHA:26792
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hepatic fibrosis, Hyperglycemia, Adipose t... OMIM:246200
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Menometrorrhagia, P... ORPHA:90970
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrauterine growth retardation, Failure to thrive, Decreased liver function, Hepatic steatosis, ... OMIM:617093
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Cardiomegaly, ... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619386
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... ORPHA:79319
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant dia... ORPHA:79086
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibros... ORPHA:370
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Failure to ... OMIM:613327
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Short stature, Splenomegaly, Hepatic fibrosi... ORPHA:264580
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Ascites, Growth delay, Failure to thrive, De... OMIM:251880
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Intrauterine growth retardation, Failure to thrive, Hyperinsulinemic hy... ORPHA:71212
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Small for gestational age, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Keloids, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogo... ORPHA:3085
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... OMIM:269700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic ... ORPHA:369
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... OMIM:608594
Aromatase Deficiency
Type II diabetes mellitus, Growth delay, Hyperlipidemia, Insulin resistance, Eunuchoid habitus, H... ORPHA:91
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Insulin r... ORPHA:90301
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Small for ... ORPHA:73272
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Abnormality of the pancreatic islet cells... ORPHA:97279
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... OMIM:203800
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia ORPHA:2849
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly OMIM:619175
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Growth delay, H... ORPHA:189439
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:255120
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Cachexia, Hypoglycemia, Elevated circulating creatine kinase... ORPHA:42
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Inguinal hernia OMIM:261550
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation, Failure to thrive OMIM:613861
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hyper... OMIM:278000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Growth delay, Elevated circulating creatine kinase concentration, Failure to thrive... OMIM:615895
Hemochromatosis, Type 2B
Increased serum iron, Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Elevated transferrin ... OMIM:613313
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Failure to thrive OMIM:618234
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Increased hepatic glycogen content OMIM:261750
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos... OMIM:614300
Ddost-Cdg
Short stature, Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Eleva... ORPHA:300536
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Short stature, Elevated hepatic tra... OMIM:256810
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly, Abnormal calcium-phosphate regulating hormone level, A... ORPHA:417
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hepatomegaly, Hypoglycemia ORPHA:67046
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Hemochromatosis, Type 2A
Increased serum iron, Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogo... OMIM:602390
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... OMIM:301045
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Diabetes mellitus OMIM:260370
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Abnormal circulating creatine kinase concentrat... ORPHA:369840
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Hemochromatosis, Type 1
Testicular atrophy, Increased serum iron, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular c... OMIM:235200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Hyperlipoproteinemia, Type Id
Failure to thrive, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Rajab Interstitial Lung Disease With Brain Calcifications 2
Short stature, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypopituitarism, Hypo... OMIM:619013
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Short stature, Hypogonadism, Postnatal growth retardation OMIM:616113
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:269840
Wilson Disease
Hepatomegaly, Failure to thrive, Abnormality of the menstrual cycle, Hepatitis, Weight loss, Acut... ORPHA:905
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated circulating... OMIM:232400
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Growth delay, Increased hepatic glycogen conten... OMIM:613027
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Growth delay, Azoospermia, Splenomegaly, Hypogonadism, Increased circulating ferrit... OMIM:615234
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Leprechaunism
Severe intrauterine growth retardation, Hepatomegaly, Central hypothyroidism, Fasting hypoglycemi... ORPHA:508
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Elevated circulating cre... ORPHA:228305
Cog7-Cdg
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Fail... ORPHA:79333
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Postnatal growth retardation, Short stature OMIM:619489
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Growth delay, Short stature, Elevated circulating creatine kinase concentration, Fa... OMIM:614727
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He... OMIM:261680
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Splenomegaly, Increased circulating ferritin concentration, Diabetes mellitus... ORPHA:465508
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Intrauterine growth retardation, Severe... ORPHA:769
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Cardio... OMIM:201475
Porphyria Cutanea Tarda
Increased serum iron, Scarring, Elevated hepatic iron concentration, Portal inflammation, Chronic... ORPHA:101330
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Short stature, Increase... OMIM:614921
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice ORPHA:172
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria OMIM:618857
Hemochromatosis Type 4
Congenital hepatic fibrosis, Increased circulating ferritin concentration, Cirrhosis, Hepatic ste... ORPHA:139491
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Mulibrey Nanism
Hepatomegaly, Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Primary amenorrhea, Decreased serum leptin OMIM:614962
Classic Galactosemia
Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Hypoglycemia, Ascites, Decreased serum insuli... ORPHA:79239
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Galactosemia
Secondary amenorrhea, Hepatomegaly, Hypergalactosemia, Oligomenorrhea, Decreased serum insulin-li... ORPHA:352
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Lack of facial subcutaneous fat, Small for gestational age, Short st... ORPHA:2959
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Galactosemia Iii
Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Jaundice OMIM:230350
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Pancreatitis, Hyp... OMIM:603471
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Failure to thrive, Hyperalaninemia, Hepatic steatosis, Elevated circulating alanine... OMIM:614582
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Monosomy 13Q34
Growth delay, Insulin resistance, Metrorrhagia, Hepatic steatosis, Infantile hypercalcemia, Obesity ORPHA:96168
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Intrauterine growth retardation ORPHA:1980
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Intrauterine growth retardation, Splenomegaly, Hypogonadism, Flexion contracture OMIM:608540
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Dysmenorrhea, Oligomenorrhea, Hepatic fibrosis, Hepatocellula... ORPHA:79240
Infantile Liver Failure Syndrome 1
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... OMIM:615438
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Jaundice, Hepatic steatosis, Hepatospl... ORPHA:444490
Galactose Epimerase Deficiency
Hepatomegaly, Growth delay, Weight loss, Splenomegaly, Jaundice ORPHA:79238
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Gracile Syndrome
Decreased transferrin saturation, Intrauterine growth retardation, Elevated hepatic iron concentr... ORPHA:53693
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... OMIM:618549
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... OMIM:201450
Whipple Disease
Hyponatremia, Hepatomegaly, Cachexia, Insulin resistance, Erectile dysfunction, Splenomegaly, Hyp... ORPHA:3452
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Infantile Liver Failure Syndrome 3
Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failu... OMIM:618641
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:618495
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Short stature, Increased LDL cholesterol c... OMIM:607616
Galactose Mutarotase Deficiency
Hepatomegaly, Hypergalactosemia, Failure to thrive, Decreased liver function, Cholestasis ORPHA:570422
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Growth delay, Hepatocellular carcinoma, Increased hepatic gly... ORPHA:2088
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Hypergonadotropic hypogonadism, Hypocholesterolemia, Failure to t... OMIM:212065
Galactosemia I
Hepatomegaly, Hypergalactosemia, Failure to thrive, Increased level of galactitol in red blood ce... OMIM:230400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Growt... OMIM:619418
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, N... OMIM:212138
Aredyld Syndrome
Hepatomegaly, Cachexia, Type II diabetes mellitus, Intrauterine growth retardation, Short stature... ORPHA:1133
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh... OMIM:616860
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... OMIM:220111
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Short stature, Failure to thrive, Hepatic steatosis, Steatorrhea,... OMIM:616263
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis, Failure to thrive OMIM:614924
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Increased body w... ORPHA:890
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... ORPHA:79301
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter, Small for gestational... OMIM:210740
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Intrauterine growth retardation, Hepatic fibrosis, Growth delay, Decreased serum zinc, Hepatic st... ORPHA:541423
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Short stature, Primary adrenal insufficiency ORPHA:977
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoketotic hypoglycemia, Growth delay, Hepatic necrosis, Hepatic stea... OMIM:231530
Short Syndrome
Insulin resistance, Weight loss, Lipodystrophy, Abnormal dental enamel morphology, Severe short s... ORPHA:3163
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly OMIM:618541
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Elevated creatine kinase after exercise, Elevated circulating acylcarnitine co... ORPHA:99901
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Elevated circulating creatine kinase concentration, Failure to thrive, Increased se... OMIM:500009
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Isochromosomy Yp
Primary gonadal insufficiency, Male infertility, Azoospermia ORPHA:98797
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegaly OMIM:608971
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... ORPHA:567983
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Jau... ORPHA:247598
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Hypogonadism, Decreased serum testo... OMIM:201100
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Hepatomegaly, Delayed puberty, Growth delay OMIM:615704
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Elevated circulating creatine kinase concentration, Failure to thrive, Female infe... OMIM:619518
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Growth delay, Short stature, Failure to thrive, Type I diabetes mellitus ORPHA:251009
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Failure to thrive, Hyperammonemia, Elevated plasm... ORPHA:2394
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Increased serum pyruvate, Hepatomegaly OMIM:614741
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Hypoalbuminemia, Intrauterine growth retardation, Ascites, Failure to thrive, Decre... OMIM:608104
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Hypogonadotropic hypogonadism, Weight loss, Hyperalaninemia, Cirrhosis, Macrovesicular ... ORPHA:298
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Intrauterine growth retardation, Hypoglycemia, Failure to thrive, Elevated hepatic ... OMIM:618958
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Failure to th... ORPHA:79322
Werner Syndrome
Secondary amenorrhea, Thyroid carcinoma, Type II diabetes mellitus, Chondrocalcinosis, Short stat... ORPHA:902
Chylomicron Retention Disease
Growth delay, Hypocholesterolemia, Failure to thrive, Increased hepatocellular lipid droplets, He... ORPHA:71
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Insulin resistance, Truncal obesity, Hypogonadism, Left ventricular hypertrophy... OMIM:209900
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture OMIM:618856
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia, Failure to thrive OMIM:210200
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hepatomegaly, Hypoglycemia, Short stature, Glycosuria, Large for gestational age, D... OMIM:616026
Alpha-Heavy Chain Disease
Hepatomegaly, Growth delay, Ascites, Splenomegaly, Premature ovarian insufficiency, Hypocalcemia ORPHA:100025
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Hyperalaninemia, H... ORPHA:348
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Hyperlipidemia, Biliary tract abnormality, Multiple lipomas, Spleno... ORPHA:1414
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Ascites, Failure to thrive, Weig... OMIM:619487
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Intrauterine growth retardation, Short stature, Failure to t... OMIM:609981
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... ORPHA:2126
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperammonemia, Cirrhosis, Hepatic steatosis, ... OMIM:615486
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Hepatic steatosis, Failure to thrive ORPHA:70472
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Intrauterine growth retardation, Short stature, Insulin r... ORPHA:813
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Short stature, Female infertility, Male hypogonadism, Abnormal spermat... ORPHA:261529
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Central hypothyroidism, Growth delay, Ascites, Short stature, Hyperbi... ORPHA:1667
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... OMIM:214900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Short stature, Menorrhagia, Hep... ORPHA:79259
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Pyruvate Carboxylase Deficiency
Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Hyperalaninemia OMIM:266150
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Incr... OMIM:616278
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Hypoglycemia OMIM:246900
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Short stature, Failure to thrive, Splenomegaly, Cirrhosis... OMIM:601847
Atypical Werner Syndrome
Secondary amenorrhea, Short stature, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemi... ORPHA:79474
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Isochromosomy Yq
Primary gonadal insufficiency, Male infertility, Azoospermia ORPHA:98798
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glycosuria, Hepatic steatosis, Elevated circulating glutaric acid con... OMIM:231680
Familial Multiple Lipomatosis
Increased adipose tissue, Lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:199276
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Retrograde ejacu... ORPHA:230
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Short stature, Generalized lipodystrophy, Delayed... ORPHA:90154
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Vipoma
Increased circulating cortisol level, Primary hyperparathyroidism, Diabetes mellitus, Intrahepati... ORPHA:97282
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis, Short stature ORPHA:52430
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... OMIM:617713
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Neutral Lipid Storage Myopathy
Hepatomegaly, Pineal cyst, Abnormal circulating creatine kinase concentration, Short stature, Hep... ORPHA:98908
Short Stature, Microcephaly, And Endocrine Dysfunction
Intrauterine growth retardation, Short stature, Insulin resistance, Abnormal circulating lipid co... OMIM:616541
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... ORPHA:453533
Prader-Willi Syndrome
Adrenal insufficiency, Infertility, Type II diabetes mellitus, Oligomenorrhea, Failure to thrive ... OMIM:176270
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Elevated circulating long c... OMIM:608836
Bloom Syndrome
Oligospermia, Intrauterine growth retardation, Growth delay, Small for gestational age, Azoosperm... ORPHA:125
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Short stature, Glucose intolerance, Impaired glucose tolerance, S... OMIM:615630
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... OMIM:603552
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... OMIM:618528
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper... OMIM:607765
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Hyperlipidemia, Arthrogryposis multiplex congenita, Hepatic stea... ORPHA:254346
Pearson Syndrome
Adrenal insufficiency, Hypophosphatemia, Splenomegaly, Postnatal growth retardation, Steatorrhea,... ORPHA:699
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... ORPHA:228308
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Abnormality of the liver, Hepatomegaly, Decreased plasma carnitine, Mildly elevated creatine kinase ORPHA:254864
Somatostatinoma
Increased circulating cortisol level, Primary hyperparathyroidism, Steatorrhea, Diabetes mellitus... ORPHA:97283
Trichohepatoenteric Syndrome 2
Hepatomegaly, Intrauterine growth retardation, Small for gestational age, Failure to thrive, Hepa... OMIM:614602
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Cachexia, Growth delay, Ascites, Splenomegaly, Steatorrhea, ... ORPHA:75233
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... OMIM:214950
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Short stature, Splenomegaly OMIM:613673
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Abnormal circulating creatine kinase concentration, Short stature, Micronodular cir... ORPHA:98907
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hepatomegaly, Hyperammonemia ORPHA:28
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Ascites, Cardiomegal... ORPHA:858
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Short stature, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahep... OMIM:211600
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Hepatomegaly, Short stature, Hyperammonemia OMIM:604273
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Cholelithiasis, Hypogonadism OMIM:619273
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninemia, Growth delay OMIM:204000
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia, Diffuse hepatic steat... ORPHA:746
Fructose Intolerance, Hereditary
Hepatomegaly, Hypoglycemia, Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, ... OMIM:229600
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Failure to thrive, Pancreatitis, Hepatic steatosis, Hypermethioninemia, Ingu... OMIM:236200
Woodhouse-Sakati Syndrome
Growth delay, Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Delayed puberty,... ORPHA:3464
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss, Ascites ORPHA:2198
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Increased total bilirubin, Acute hepatiti... ORPHA:2137
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:98293
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hepatic failure, ... OMIM:235555
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Failure to thrive, Bile duct proliferation, Hyperalaninemia, Macrovesicular hepatic... OMIM:618329
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, H... OMIM:300972
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:615285
Beta-Thalassemia Intermedia
Hepatomegaly, Abnormality of iron homeostasis, Adrenal insufficiency, Hypoparathyroidism, Elevate... ORPHA:231222
Rett Syndrome
Failure to thrive, Hyperammonemia, Increased serum leptin, Cholecystitis, Increased serum pyruvate ORPHA:778
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Hypercholesterolemia, Cirrhosis, Elevate... OMIM:619662
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Hyperlipidemia, Short stature, Female infertility, Atypical scarring of ski... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Hyperlipidemia, Short stature, Female infertility, Atypical scarring of ski... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Hyperlipidemia, Short stature, Female infertility, Atypical scarring of ski... ORPHA:99228
Monosomy X
Secondary amenorrhea, Hyperlipidemia, Short stature, Female infertility, Atypical scarring of ski... ORPHA:99226
Congenital Rubella Syndrome
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly, Type I diabetes melli... ORPHA:290
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Postnatal growth retardation, Intrauterine growth retardation OMIM:610198
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Eleva... OMIM:619064
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypoglycemia, Ascites, Small for gestational ag... OMIM:613658
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... OMIM:300635
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
3-Methylglutaconic Aciduria Type 7
Growth delay, Neonatal hypoglycemia, Hepatic steatosis, Hypothyroidism, Elevated hepatic transami... ORPHA:445038
Ppoma
Increased circulating cortisol level, Intestinal carcinoid, Primary hyperparathyroidism, Intrahep... ORPHA:97278
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Hepatomegaly, Hypothyroidism OMIM:251900
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Intrauterine growth retardation, Growth delay, Neonatal hypogly... ORPHA:66634
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia ORPHA:156
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated hepatic transam... ORPHA:14
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Severe intrauterine growth retardation, Fasting hypoglycemia, Intrauterine growth retardation, Sm... ORPHA:96182
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycorti... ORPHA:556037
Gaucher Disease, Type Iii
Hepatomegaly, Decreased body weight, Short stature, Splenomegaly OMIM:231000
Mu-Heavy Chain Disease
Hepatomegaly, Weight loss, Splenomegaly ORPHA:100024
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepatic trans... OMIM:613489
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Chondrocalcinosis, Primary hyperaldosteronism, Hypo... ORPHA:358
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Short stature, Insulin-resistant diabetes mellitus, Hypergonadotropic hypog... OMIM:268020
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Ascites, Failure to thrive, Cirrhosis, Decreased liver function, Hepatosplenomegaly... ORPHA:367
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Marbach-Rustad Progeroid Syndrome
Intrauterine growth retardation, Growth delay, Short stature, Insulin resistance, Reduced subcuta... OMIM:619322
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Hepatitis, Cholelit... ORPHA:848
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Ascites, Failure to thrive, Hypertyrosinemi... OMIM:276700
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycorti... ORPHA:556030
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hypokalemia, Hepatic fibrosis, Failure to thri... OMIM:619377
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Contractures involving the joints of the feet, Hepatomegaly, Mild postnatal growth retardation, A... ORPHA:456312
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia, Failure to thrive, Cholestatic liver disease ORPHA:5
Short Syndrome
Intrauterine growth retardation, Small for gestational age, Insulin-resistant diabetes mellitus, ... OMIM:269880
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure OMIM:611126
B4Galt1-Cdg
Hepatomegaly, Small for gestational age, Elevated hepatic transaminase, Elevated circulating crea... ORPHA:79332
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Failure to thrive, Glycosuria, Diffuse hepatic steatosis, Decreased liver function ORPHA:436271
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Hepatomegaly, Diabetes mellitus, Type I diabetes mellitus OMIM:560000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Growth delay, Failure to thrive OMIM:613561
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Hypoglycemia, Failure to thrive, Decreased liver f... OMIM:124000
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Fatal liver failure in infancy, Hepatosplenomegaly, Hyperspleni... ORPHA:275761
Mast Cell Sarcoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:66661
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Failure to thrive, Hepatomegaly, Intrauterine growth retardation, Short stature ORPHA:50812
D-Bifunctional Protein Deficiency
Fetal ascites, Hepatomegaly, Failure to thrive, Bile duct proliferation, Primary adrenal insuffic... OMIM:261515
Glucagonoma
Increased circulating cortisol level, Primary hyperparathyroidism, Steatorrhea, Diabetes mellitus... ORPHA:97280
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly OMIM:614922
Grfoma
Neoplasm of the thymus, Increased circulating cortisol level, Intestinal carcinoid, Primary hyper... ORPHA:97261
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... OMIM:609069
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Intrauterine growth retardation, Growth delay, Elevated circulating creatine kinase... OMIM:614576
Dubin-Johnson Syndrome
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Biliary tract abnormality,... ORPHA:234
Pfapa Syndrome
Hepatomegaly, Weight loss, Splenomegaly ORPHA:42642
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Weight loss, Hyperuricemia, Hyperammonemia, Recu... ORPHA:20
Hurler-Scheie Syndrome
Hepatomegaly, Hernia, Short stature, Splenomegaly ORPHA:93476
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Failure to thrive, Pancreatitis, Splenomegaly, Hyperammonemia ORPHA:79312
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight loss, Cholelithi... ORPHA:53035
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Hypoglycemia, Intrauterine growth retardation, Short stature, Growth delay, Elevate... OMIM:608779
Harderoporphyria
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... OMIM:618892
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Beta-Thalassemia Major
Hepatomegaly, Abnormality of iron homeostasis, Adrenal insufficiency, Hypoparathyroidism, Hepatic... ORPHA:231214
Transketolase Deficiency
Secondary amenorrhea, Hepatomegaly, Elevated circulating ribitol concentration, Proportionate sho... ORPHA:488618
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Short stature, Failure to thrive, Pancreatitis, Hyperglycinemia, Hype... OMIM:606054
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Failure to thrive, Cardiomegaly, Lipoatrophy, Hypot... ORPHA:349
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Decreased HDL cholesterol concentration, Elevated circulating creatin... ORPHA:85450
Infantile Refsum Disease
Failure to thrive, Hepatomegaly, Short stature, Elevated levels of phytanic acid ORPHA:772
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea, Failure to thrive OMIM:266510
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Growth delay, Failure to thrive, Splenomegaly, Thyroiditis, Elevated circulating C-... OMIM:617388
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Congenital... OMIM:610199
Leishmaniasis
Hepatomegaly, Weight loss, Splenomegaly, Hypoalbuminemia, Elevated hepatic transaminase ORPHA:507
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short stature, Flexion contracture, Hyperlipidemia, Insulin resistance ORPHA:90153
Transaldolase Deficiency
Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Small for gestational age, Failu... OMIM:606003
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Scarring alopecia of scalp, Splenomegaly, Choles... ORPHA:59303
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:615085
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Growth delay, Short stature, Splenomegaly, Jaundice OMIM:608885
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Omenn Syndrome
Hypoproteinemia, Hepatomegaly, Failure to thrive, Hypoplasia of the thymus, Splenomegaly OMIM:603554
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Failure to thrive in infancy, Short stature, Hepatitis, Splenomegaly, Hypersplenism... OMIM:613385
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Intrauterine growth retardation, Short stature, Elevated circulating creatine kinas... OMIM:615356
Glutaric Acidemia I
Hypoglycemia, Hepatomegaly, Elevated circulating glutaric acid concentration, Failure to thrive OMIM:231670
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Elevated creatine kinase after exer... ORPHA:159
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Intrauterine growth retardation, Growth delay, Hypokalemia, Ascites, Small for gest... OMIM:619573
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hepatomegaly, Hypoketotic hypoglycemia, Small for gestational age, Elevated circ... ORPHA:26793
Celiac Disease, Susceptibility To, 1
Infertility, Short stature, Failure to thrive, Weight loss, Enamel hypoplasia, Thyroiditis, Steat... OMIM:212750
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Failure to thrive, Acute hepatitis, Hyperammonemia, Decreased liver function, Hyper... OMIM:238970
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... OMIM:267700
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Neuroendocrine neoplasm, Ascites, Increased serum serotonin, Biliary tract obstruct... ORPHA:100085
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Intrauterine growth retardation, Acholic stools, Annular pancreas, Hypergl... OMIM:615710
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Methylmalonic acidemia, Hypoglycemia, Growth delay, Failure to thrive, Hepatic stea... ORPHA:17
Oculoskeletodental Syndrome
Hypercalcemia, Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Hypothyroidi... OMIM:618440
Combined Oxidative Phosphorylation Deficiency 53
Failure to thrive, Hepatomegaly, Elevated circulating C-reactive protein concentration, Short sta... OMIM:619423
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Panniculitis, Lipodystrophy, Splenomegaly, Hypertriglyceridemia,... OMIM:617591
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Typ... ORPHA:171
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatocellular carcinoma, Short stature, Pancreatitis... OMIM:232200
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, ... ORPHA:131
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive, Bile duct proliferation, Micro... OMIM:203700
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... ORPHA:273
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Increased hepatocellular lipid droplets, Glycosuria, Decreased l... OMIM:220110
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Short stature, Glucose intolerance, Generalized lipodystrophy, Macrovesicular hepat... OMIM:619127
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Growth delay, Short stature, Splenomegaly, Jaundice OMIM:615631
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Hepatomegaly, Hypoplasia of the thymus OMIM:300400
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Intrauterine growth retardation, Growth delay, Hyperammonemia, Flexion contracture,... ORPHA:1194
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Intrauterine growth retardation, Goiter, Puberty an... ORPHA:525731
Heme Oxygenase 1 Deficiency
Hepatomegaly, Growth delay, Asplenia, Increased circulating ferritin concentration, Elevated circ... OMIM:614034
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Intrauterine growth retardation, Elevated circulating long chain fatty acid concent... OMIM:214110
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia, Decreased plasma carnitine OMIM:246450
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Failure to thrive, B... OMIM:619525
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hypercalcemia, Hepatomegaly, Calcinosis, Failure ... OMIM:239200
Bronchial Neuroendocrine Tumor
Hepatomegaly, Increased serum serotonin, Increased circulating cortisol level, Weight loss, Pulmo... ORPHA:97287
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Increased circulating ferritin c... ORPHA:158061
Glycogen Storage Disease Ib
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatocellular carcinoma, Short stature, Pancreatitis... OMIM:232220
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hepatomegaly, Hypoglycemia, Type II diabetes mellitus, Hypokalemia, ... ORPHA:88673
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Atypical pulmonary carcinoid tumor, Increased serum serotonin, Weight loss, Carcino... ORPHA:100080
Mucopolysaccharidosis-Plus Syndrome